#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATAD3B	83858	broad.mit.edu	37	1	1430870	1430870	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1430870G>A	ENST00000308647.7	+	16	1736	c.1620G>A	c.(1618-1620)acG>acA	p.T540T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	540						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)		ACTAGGCCACGGCATATGCCT	0.632																																						uc001afv.2		NA																	0					0						c.(1618-1620)ACG>ACA		AAA-ATPase  TOB3							64.0	66.0	65.0					1																	1430870		2203	4295	6498	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1430870G>A	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.1620G>A	1.37:g.1430870G>A						ATAD3B_uc001afx.2_Silent_p.T494T|ATAD3B_uc001afy.2_Silent_p.T93T	p.T540T	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	1721	+	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)	540					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1620G>A	CCDS30.1																																																																																				0.632	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		23	15	0	0	0	0	23	15				
SLC35E2	9906	broad.mit.edu	37	1	1670363	1670363	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:1670363C>T	ENST00000246421.4	-	3	871	c.456G>A	c.(454-456)atG>atA	p.M152I	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152I|SLC35E2_ENST00000355439.2_Missense_Mutation_p.M152I	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCTTTACCTCATCAGACCCA	0.473																																						uc001aib.1		NA																	0				pancreas(1)	1						c.(454-456)ATG>ATA		solute carrier family 35, member E2							24.0	31.0	29.0					1																	1670363		2195	4294	6489	SO:0001583	missense	9906					integral to membrane		g.chr1:1670363C>T	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.456G>A	1.37:g.1670363C>T	ENSP00000246421:p.Met152Ile					SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Missense_Mutation_p.M152I|SLC35E2_uc001ahy.2_Missense_Mutation_p.M152I|SLC35E2_uc001ahz.2_Missense_Mutation_p.M152I	p.M152I	NM_182838	NP_878258	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	872	-	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	152			Helical; (Potential).		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	37	c.456G>A	CCDS33.1	.	.	.	.	.	.	.	.	.	.	c	9.284	1.048858	0.19827	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	D;D;D	0.90069	-2.61;-2.61;-2.61	2.89	2.89	0.33648	Drug/metabolite transporter (1);	0.110770	0.64402	U	0.000017	D	0.85243	0.5652	L	0.60455	1.87	0.28462	N	0.91583	P;P	0.40282	0.711;0.48	B;B	0.37346	0.247;0.12	T	0.80259	-0.1457	10	0.39692	T	0.17	-45.8062	12.8064	0.57616	0.0:1.0:0.0:0.0	.	152;152	P0CK97;P0CK97-2	S35E2_HUMAN;.	I	152	ENSP00000347614:M152I;ENSP00000383714:M152I;ENSP00000246421:M152I	ENSP00000246421:M152I	M	-	3	0	SLC35E2	1660223	1.000000	0.71417	0.986000	0.45419	0.375000	0.29983	5.730000	0.68546	1.604000	0.50143	0.531000	0.56144	ATG		0.473	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		8	28	0	0	0	0	8	28				
AJAP1	55966	broad.mit.edu	37	1	4772252	4772252	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:4772252G>C	ENST00000378191.4	+	2	703	c.322G>C	c.(322-324)Gcg>Ccg	p.A108P	AJAP1_ENST00000378190.3_Missense_Mutation_p.A108P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	108					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)		CCGGGACCAGGCGGCCGCCCT	0.736																																						uc001alm.1		NA																	0				lung(1)	1						c.(322-324)GCG>CCG		adherens junction associated protein 1							7.0	7.0	7.0					1																	4772252		1836	3700	5536	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772252G>C	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.322G>C	1.37:g.4772252G>C	ENSP00000367433:p.Ala108Pro					AJAP1_uc001aln.2_Missense_Mutation_p.A108P	p.A108P	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)	2	703	+	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)	108			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.322G>C	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	9.479	1.097657	0.20552	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.46819	0.86;0.86	5.2	3.29	0.37713	.	0.608093	0.15008	N	0.285748	T	0.27419	0.0673	N	0.08118	0	0.24510	N	0.994218	B	0.28880	0.226	B	0.34138	0.176	T	0.19289	-1.0310	10	0.30854	T	0.27	-1.9659	7.3748	0.26823	0.1988:0.0:0.8012:0.0	.	108	Q9UKB5	AJAP1_HUMAN	P	108	ENSP00000367432:A108P;ENSP00000367433:A108P	ENSP00000367432:A108P	A	+	1	0	AJAP1	4672112	0.760000	0.28428	0.782000	0.31804	0.157000	0.22087	0.914000	0.28624	1.133000	0.42147	0.563000	0.77884	GCG		0.736	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		2	7	0	0	0	0	2	7				
CAMTA1	23261	broad.mit.edu	37	1	7723703	7723703	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:7723703C>A	ENST00000303635.7	+	9	1303	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L366I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGCAGCGGGCTCAACAGCGA	0.662			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1096-1098)CTC>ATC		calmodulin-binding transcription activator 1							97.0	97.0	97.0					1																	7723703		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723703C>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1096C>A	1.37:g.7723703C>A	ENSP00000306522:p.Leu366Ile						p.L366I	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1303	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	366					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1096C>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	12.94	2.087308	0.36855	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.53640	0.61;0.61	5.06	3.16	0.36331	.	0.268411	0.28527	N	0.015030	T	0.41949	0.1181	L	0.53249	1.67	0.36492	D	0.868496	P	0.46912	0.886	B	0.42738	0.396	T	0.50189	-0.8857	10	0.33141	T	0.24	-5.4949	10.4729	0.44648	0.0:0.8185:0.0:0.1815	.	366	Q9Y6Y1	CMTA1_HUMAN	I	366	ENSP00000306522:L366I;ENSP00000402561:L366I	ENSP00000306522:L366I	L	+	1	0	CAMTA1	7646290	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.870000	0.39529	2.357000	0.79964	0.543000	0.68304	CTC		0.662	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		33	60	1	0	1.04e-10	1.32e-10	33	60				
KIAA2013	90231	broad.mit.edu	37	1	11982754	11982754	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:11982754A>C	ENST00000376572.3	-	2	2011	c.1826T>G	c.(1825-1827)cTc>cGc	p.L609R	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L609R	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	609						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTTGAAGAGGAAGAGGTG	0.597																																						uc001atk.2		NA																	0				ovary(1)	1						c.(1825-1827)CTC>CGC		hypothetical protein LOC90231 precursor							33.0	33.0	33.0					1																	11982754		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11982754A>C	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1826T>G	1.37:g.11982754A>C	ENSP00000365756:p.Leu609Arg					KIAA2013_uc001atl.1_Missense_Mutation_p.L609R	p.L609R	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	2020	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	609			Helical; (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1826T>G	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093742	0.76870	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.77791	0.4183	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80103	-0.1522	9	0.87932	D	0	-27.7457	15.3659	0.74523	1.0:0.0:0.0:0.0	.	609;609	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	R	609	.	ENSP00000365756:L609R	L	-	2	0	KIAA2013	11905341	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.232000	0.73038	0.528000	0.53228	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		10	20	0	0	0	0	10	20				
PRAMEF1	65121	broad.mit.edu	37	1	12854287	12854287	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:12854287G>A	ENST00000332296.7	+	3	614	c.511G>A	c.(511-513)Gtt>Att	p.V171I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	171					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGTGGGTTTACCAAAG	0.433																																						uc001auj.1		NA																	0					0						c.(511-513)GTT>ATT		PRAME family member 1							134.0	138.0	137.0					1																	12854287		2199	4284	6483	SO:0001583	missense	65121							g.chr1:12854287G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.511G>A	1.37:g.12854287G>A	ENSP00000332134:p.Val171Ile						p.V171I	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	614	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	171					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.511G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	6.467	0.454330	0.12283	.	.	ENSG00000116721	ENST00000332296	T	0.12984	2.63	1.74	-0.412	0.12367	.	0.348510	0.26213	N	0.025664	T	0.07863	0.0197	L	0.39898	1.24	0.09310	N	0.999999	P	0.36712	0.566	B	0.31946	0.138	T	0.23691	-1.0181	10	0.35671	T	0.21	.	4.3985	0.11374	0.3944:0.0:0.6056:0.0	.	171	O95521	PRAM1_HUMAN	I	171	ENSP00000332134:V171I	ENSP00000332134:V171I	V	+	1	0	PRAMEF1	12776874	0.008000	0.16893	0.011000	0.14972	0.007000	0.05969	0.007000	0.13174	-0.111000	0.12001	0.543000	0.68304	GTT		0.433	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		83	283	0	0	0	0	83	283				
PRAMEF4	400735	broad.mit.edu	37	1	12939515	12939515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:12939515G>T	ENST00000235349.5	-	4	1357	c.1287C>A	c.(1285-1287)tgC>tgA	p.C429*		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	429					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTCCAGCAGAGAGTAC	0.512																																						uc001aun.2		NA																	0				ovary(1)	1						c.(1285-1287)TGC>TGA		PRAME family member 4							76.0	87.0	83.0					1																	12939515		1497	2668	4165	SO:0001587	stop_gained	400735							g.chr1:12939515G>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1287C>A	1.37:g.12939515G>T	ENSP00000235349:p.Cys429*						p.C429*	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1358	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	429					Q5LJB5	Nonsense_Mutation	SNP	ENST00000235349.5	37	c.1287C>A	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949624	0.34377	.	.	ENSG00000243073	ENST00000235349	.	.	.	1.48	-2.48	0.06423	.	1.341060	0.04893	N	0.449945	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.5172	0.04671	0.19:0.0:0.3131:0.4968	.	.	.	.	X	429	.	ENSP00000235349:C429X	C	-	3	2	PRAMEF4	12862102	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.900000	0.04097	-0.756000	0.04703	0.400000	0.26472	TGC		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		97	173	1	0	1.1e-53	1.62e-53	97	173				
CLCNKB	1188	broad.mit.edu	37	1	16378026	16378026	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:16378026G>T	ENST00000375679.4	+	13	1392	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.M258I	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	427					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACTTCATGCCCATCTTTG	0.592																																						uc001axw.3		NA																	0				skin(1)	1						c.(1279-1281)ATG>ATT		chloride channel Kb isoform 1							221.0	209.0	213.0					1																	16378026		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16378026G>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1281G>T	1.37:g.16378026G>T	ENSP00000364831:p.Met427Ile					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.M427I|CLCNKB_uc001axy.3_Missense_Mutation_p.M258I	p.M427I	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	13	1361	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	427			Helical; (Potential).		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1281G>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.746028	0.49151	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.93763	-3.28;-3.28	4.48	3.54	0.40534	Chloride channel, core (2);	0.193958	0.53938	D	0.000047	D	0.89518	0.6738	L	0.27053	0.805	0.54753	D	0.999982	B;P	0.35894	0.416;0.526	P;P	0.46208	0.507;0.465	D	0.83535	0.0093	10	0.21014	T	0.42	.	8.3789	0.32459	0.0:0.1707:0.653:0.1764	.	258;427	Q5T5Q7;P51801	.;CLCKB_HUMAN	I	427;299;258	ENSP00000364831:M427I;ENSP00000364819:M258I	ENSP00000332055:M299I	M	+	3	0	CLCNKB	16250613	1.000000	0.71417	0.952000	0.39060	0.759000	0.43091	4.694000	0.61760	0.830000	0.34757	0.557000	0.71058	ATG		0.592	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		48	104	1	0	1.65e-34	2.41e-34	48	104				
CAPZB	832	broad.mit.edu	37	1	19671737	19671737	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:19671737C>G	ENST00000375142.1	-	7	644	c.598G>C	c.(598-600)Gat>Cat	p.D200H	CAPZB_ENST00000401084.2_Missense_Mutation_p.D200H|CAPZB_ENST00000433834.1_Missense_Mutation_p.D229H|CAPZB_ENST00000264203.3_Missense_Mutation_p.D226H|CAPZB_ENST00000375144.1_Missense_Mutation_p.D188H|CAPZB_ENST00000264202.6_Missense_Mutation_p.D200H	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	200					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACAGTTTCATCCTTCTCCATC	0.557																																						uc010ocz.1		NA																	0					0						c.(685-687)GAT>CAT		F-actin capping protein beta subunit							97.0	108.0	104.0					1																	19671737		2033	4173	6206	SO:0001583	missense	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19671737C>G	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.598G>C	1.37:g.19671737C>G	ENSP00000364284:p.Asp200His					CAPZB_uc001bce.2_Missense_Mutation_p.D200H|CAPZB_uc009vpk.2_Missense_Mutation_p.D226H|CAPZB_uc001bcd.2_Missense_Mutation_p.D188H	p.D229H	NM_004930	NP_004921	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	7	1113	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	200					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.685G>C	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391648	0.83011	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711	.	.	.	5.93	5.93	0.95920	.	0.046101	0.85682	D	0.000000	D	0.86732	0.6003	M	0.92317	3.295	0.80722	D	1	D;B;D;D	0.89917	1.0;0.002;0.966;1.0	D;B;P;D	0.97110	1.0;0.025;0.896;1.0	D	0.88863	0.3327	9	0.72032	D	0.01	-13.6673	18.9076	0.92469	0.0:1.0:0.0:0.0	.	229;226;200;188	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	H	200;226;188;200;229;262;200;188	.	ENSP00000264202:D200H	D	-	1	0	CAPZB	19544324	1.000000	0.71417	0.987000	0.45799	0.908000	0.53690	6.934000	0.75880	2.815000	0.96918	0.561000	0.74099	GAT		0.557	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			4	110	0	0	0	0	4	110				
CNKSR1	10256	broad.mit.edu	37	1	26510929	26510929	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:26510929C>T	ENST00000374253.5	+	12	1098	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	CNKSR1_ENST00000531191.1_Silent_p.P88P|CNKSR1_ENST00000361530.6_Silent_p.P346P	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	353	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCATCCCCCCGGAACCCC	0.637																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NA																	0				lung(1)|kidney(1)	2						c.(1057-1059)CCC>CCT		connector enhancer of kinase suppressor of Ras							22.0	25.0	24.0					1																	26510929		2202	4297	6499	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510929C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1059C>T	1.37:g.26510929C>T						CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.P346P|CNKSR1_uc009vsd.2_Silent_p.P88P|CNKSR1_uc009vse.2_Silent_p.P88P|CNKSR1_uc001blo.2_Silent_p.P88P	p.P353P	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	12	1117	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	353			Pro-rich.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.1059C>T																																																																																					0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		13	17	0	0	0	0	13	17				
MATN1	4146	broad.mit.edu	37	1	31187158	31187158	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:31187158G>A	ENST00000373765.4	-	7	1412	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	MATN1_ENST00000477320.1_5'Flank	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	459					extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACTCGCAGGCACACGGGT	0.627																																						uc001brz.2		NA																	0				central_nervous_system(1)	1						c.(1375-1377)GCC>GCT		matrilin 1, cartilage matrix protein precursor							35.0	35.0	35.0					1																	31187158		2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31187158G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1377C>T	1.37:g.31187158G>A						MATN1_uc001bsa.1_Silent_p.A377A	p.A459A	NM_002379	NP_002370	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	7	1411	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	459					B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.1377C>T	CCDS336.1																																																																																				0.627	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		4	13	0	0	0	0	4	13				
SPOCD1	90853	broad.mit.edu	37	1	32267266	32267266	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:32267266T>C	ENST00000360482.2	-	3	1553	c.1424A>G	c.(1423-1425)tAc>tGc	p.Y475C	SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000533231.1_Splice_Site_p.Y475C|SPOCD1_ENST00000373648.2_Splice_Site_p.Y475C	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	475					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAAACCTACGTAGCACACAAG	0.507																																						uc001bts.1		NA																	0				ovary(5)|breast(1)	6						c.(1423-1425)TAC>TGC		SPOC domain containing 1							108.0	111.0	110.0					1																	32267266		2203	4300	6503	SO:0001630	splice_region_variant	90853				transcription, DNA-dependent			g.chr1:32267266T>C	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1425+1A>G	1.37:g.32267266T>C						SPOCD1_uc001btt.2_5'Flank|SPOCD1_uc001btu.2_Missense_Mutation_p.Y475C|SPOCD1_uc001btv.2_5'UTR	p.Y475C	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	3	1482	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	475					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1424A>G	CCDS347.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717917	0.48622	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.36699	1.24;1.34;1.26	4.37	4.37	0.52481	.	.	.	.	.	T	0.43411	0.1246	N	0.19112	0.55	0.21325	N	0.999725	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.22556	-1.0213	9	0.66056	D	0.02	-12.3382	10.28	0.43534	0.0:0.0:0.0:1.0	.	475;475	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	C	475	ENSP00000353670:Y475C;ENSP00000362752:Y475C;ENSP00000435851:Y475C	ENSP00000353670:Y475C	Y	-	2	0	SPOCD1	32039853	0.867000	0.29959	0.617000	0.29091	0.658000	0.38924	3.059000	0.49947	2.191000	0.70037	0.533000	0.62120	TAC		0.507	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	Missense_Mutation	22	57	0	0	0	0	22	57				
TIE1	7075	broad.mit.edu	37	1	43772569	43772569	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:43772569G>C	ENST00000372476.3	+	4	622	c.543G>C	c.(541-543)caG>caC	p.Q181H	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Missense_Mutation_p.Q181H|TIE1_ENST00000441333.2_Missense_Mutation_p.Q181H	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	181					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)			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)				TCCTGCTGCAGCTCCCAAATG	0.607																																						uc001ciu.2		NA																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(541-543)CAG>CAC		tyrosine kinase with immunoglobulin-like and							73.0	72.0	73.0					1																	43772569		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772569G>C	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.543G>C	1.37:g.43772569G>C	ENSP00000361554:p.Gln181His					TIE1_uc010okd.1_Missense_Mutation_p.Q181H|TIE1_uc010oke.1_Missense_Mutation_p.Q136H|TIE1_uc009vwq.2_Missense_Mutation_p.Q181H|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010okb.1_Missense_Mutation_p.Q181H|TIE1_uc010okc.1_Missense_Mutation_p.Q181H	p.Q181H	NM_005424	NP_005415	P35590	TIE1_HUMAN			4	622	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	181			Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.543G>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	0.282	-0.986002	0.02180	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.41065	1.01;1.01;1.01	5.13	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.208509	0.24027	N	0.042221	T	0.32133	0.0819	L	0.38531	1.155	0.80722	D	1	B;B;P;D;B	0.54964	0.102;0.412;0.681;0.969;0.343	B;B;B;P;B	0.50970	0.054;0.121;0.254;0.655;0.073	T	0.45818	-0.9235	10	0.05620	T	0.96	.	4.552	0.12117	0.3364:0.1554:0.5082:0.0	.	136;181;181;181;181	B4DTW8;B5A952;B5A950;B5A948;P35590	.;.;.;.;TIE1_HUMAN	H	181	ENSP00000361554:Q181H;ENSP00000401903:Q181H;ENSP00000440063:Q181H	ENSP00000361554:Q181H	Q	+	3	2	TIE1	43545156	0.706000	0.27856	0.990000	0.47175	0.106000	0.19336	0.904000	0.28491	0.551000	0.29008	-0.448000	0.05591	CAG		0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		18	46	0	0	0	0	18	46				
CC2D1B	200014	broad.mit.edu	37	1	52826198	52826198	+	Silent	SNP	G	G	A	rs376425581		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:52826198G>A	ENST00000371586.2	-	6	639	c.501C>T	c.(499-501)caC>caT	p.H167H	CC2D1B_ENST00000438831.1_De_novo_Start_OutOfFrame|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.H167H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	167						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(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGCAAAGCGTGTAGCCCCT	0.632																																						uc001ctq.1		NA																	0				ovary(2)	2						c.(499-501)CAC>CAT		coiled-coil and C2 domain containing 1B		G		0,4406		0,0,2203	43.0	41.0	42.0		501	4.5	1.0	1		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CC2D1B	NM_032449.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		167/859	52826198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200014							g.chr1:52826198G>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.501C>T	1.37:g.52826198G>A						CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'Flank	p.H167H	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			6	639	-			167			Potential.		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.501C>T	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	0.166	-1.076027	0.01903	0.0	1.16E-4	ENSG00000154222	ENST00000450942	.	.	.	5.42	4.5	0.54988	.	.	.	.	.	T	0.69433	0.3110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68424	-0.5412	4	.	.	.	-11.848	13.7458	0.62874	0.0:0.8368:0.1632:0.0	.	.	.	.	M	108	.	.	T	-	2	0	CC2D1B	52598786	0.974000	0.33945	0.999000	0.59377	0.074000	0.17049	0.998000	0.29744	1.284000	0.44531	-0.311000	0.09066	ACG		0.632	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		11	23	0	0	0	0	11	23				
LRRC7	57554	broad.mit.edu	37	1	70300502	70300502	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:70300502G>T	ENST00000035383.5	+	4	456	c.426G>T	c.(424-426)caG>caT	p.Q142H	LRRC7_ENST00000370958.1_Missense_Mutation_p.Q180H|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q147H|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	142						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						ACCTGACCCAGCTCTACCTGA	0.358																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(424-426)CAG>CAT		leucine rich repeat containing 7							155.0	145.0	148.0					1																	70300502		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70300502G>T		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.426G>T	1.37:g.70300502G>T	ENSP00000035383:p.Gln142His					LRRC7_uc001deo.1_Missense_Mutation_p.Q180H|LRRC7_uc009wbg.2_5'UTR	p.Q142H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			4	456	+			142			LRR 6.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.426G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	8.667	0.901906	0.17760	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.51325	1.87;0.71;1.87	5.28	1.3	0.21679	.	0.060394	0.64402	D	0.000002	T	0.20700	0.0498	N	0.03224	-0.385	0.80722	D	1	B;D	0.69078	0.119;0.997	B;D	0.64042	0.168;0.921	T	0.03875	-1.0996	10	0.18276	T	0.48	.	9.6533	0.39910	0.2909:0.0:0.7091:0.0	.	142;180	Q96NW7;B1AKT2	LRRC7_HUMAN;.	H	147;180;142;142	ENSP00000309245:Q147H;ENSP00000359997:Q180H;ENSP00000035383:Q142H	ENSP00000035383:Q142H	Q	+	3	2	LRRC7	70073090	1.000000	0.71417	0.998000	0.56505	0.608000	0.37181	5.161000	0.64935	0.059000	0.16252	-0.736000	0.03550	CAG		0.358	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	47	1	0	6.21e-17	8.51e-17	23	47				
ERICH3	127254	broad.mit.edu	37	1	75097586	75097586	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:75097586C>A	ENST00000326665.5	-	7	848	c.630G>T	c.(628-630)agG>agT	p.R210S	C1orf173_ENST00000420661.2_Missense_Mutation_p.R13S	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		210										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						CTATGGAGTTCCTGAACTTCA	0.393																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(628-630)AGG>AGT		hypothetical protein LOC127254							171.0	150.0	157.0					1																	75097586		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75097586C>A																												ENST00000326665.5:c.630G>T	1.37:g.75097586C>A	ENSP00000322609:p.Arg210Ser					C1orf173_uc001dgi.3_Missense_Mutation_p.R4S	p.R210S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	849	-			210					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.630G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597998	0.28445	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.20881	2.51;2.04	5.39	2.36	0.29203	.	.	.	.	.	T	0.13500	0.0327	L	0.51422	1.61	0.09310	N	1	P;D	0.59767	0.925;0.986	P;P	0.53035	0.536;0.716	T	0.10636	-1.0621	9	0.25751	T	0.34	-9.2219	9.7758	0.40618	0.0:0.7037:0.0:0.2963	.	13;210	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	S	210;13	ENSP00000322609:R210S;ENSP00000398581:R13S	ENSP00000322609:R210S	R	-	3	2	C1orf173	74870174	0.998000	0.40836	0.830000	0.32933	0.011000	0.07611	0.704000	0.25661	0.632000	0.30432	-0.157000	0.13467	AGG		0.393	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			39	51	1	0	1.47e-24	2.1e-24	39	51				
FAM73A	374986	broad.mit.edu	37	1	78332059	78332059	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:78332059A>T	ENST00000370791.3	+	14	1578	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K478*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	516						integral component of membrane (GO:0016021)		p.R517fs*19(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGAAACAGAAAAGACAACA	0.353																																						uc001dhx.2		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(1546-1548)AAA>TAA		hypothetical protein LOC374986							102.0	105.0	104.0					1																	78332059		2203	4300	6503	SO:0001587	stop_gained	374986					integral to membrane		g.chr1:78332059A>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1546A>T	1.37:g.78332059A>T	ENSP00000359827:p.Lys516*					FAM73A_uc010ork.1_Nonsense_Mutation_p.K516*|FAM73A_uc010orl.1_Nonsense_Mutation_p.K478*	p.K516*	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	14	1578	+			516					Q6MZG0	Nonsense_Mutation	SNP	ENST00000370791.3	37	c.1546A>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728563	0.89390	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	.	.	.	5.83	5.83	0.93111	.	0.046656	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1689	15.3939	0.74774	1.0:0.0:0.0:0.0	.	.	.	.	X	516;478	.	ENSP00000359827:K516X	K	+	1	0	FAM73A	78104647	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	8.226000	0.89785	2.236000	0.73375	0.533000	0.62120	AAA		0.353	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		28	69	0	0	0	0	28	69				
LPHN2	23266	broad.mit.edu	37	1	82416749	82416749	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:82416749A>G	ENST00000370728.1	+	10	2185	c.1540A>G	c.(1540-1542)Aag>Gag	p.K514E	LPHN2_ENST00000370727.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370713.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370721.1_Missense_Mutation_p.K452E|LPHN2_ENST00000271029.4_Missense_Mutation_p.K514E|LPHN2_ENST00000370725.1_Missense_Mutation_p.K514E|LPHN2_ENST00000359929.3_Missense_Mutation_p.K514E|LPHN2_ENST00000370730.1_Missense_Mutation_p.K514E|LPHN2_ENST00000319517.6_Missense_Mutation_p.K514E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.K514E|LPHN2_ENST00000370715.1_Missense_Mutation_p.K514E|LPHN2_ENST00000335786.5_Missense_Mutation_p.K514E|LPHN2_ENST00000370717.2_Missense_Mutation_p.K514E|LPHN2_ENST00000394879.1_Missense_Mutation_p.K514E			O95490	LPHN2_HUMAN	latrophilin 2	514					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)		ATGGAACCCTAAGGGCCCCGA	0.438																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1540-1542)AAG>GAG		latrophilin 2 precursor							127.0	121.0	123.0					1																	82416749		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416749A>G	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.1540A>G	1.37:g.82416749A>G	ENSP00000359763:p.Lys514Glu					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K514E|LPHN2_uc001div.2_Missense_Mutation_p.K514E|LPHN2_uc009wcd.2_Missense_Mutation_p.K514E|LPHN2_uc001diw.2_Missense_Mutation_p.K85E	p.K514E	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)	8	1721	+			514			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1540A>G		.	.	.	.	.	.	.	.	.	.	A	12.66	2.005259	0.35415	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.29908	0.895	0.54753	D	0.999988	P;P;P	0.44195	0.735;0.828;0.609	B;B;B	0.40066	0.287;0.318;0.287	T	0.49133	-0.8971	10	0.51188	T	0.08	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	514;514;514	O95490-3;O95490-4;O95490-2	.;.;.	E	452;514;514;514;514;514;514;514;514;514;514;514;514;514	ENSP00000359756:K452E;ENSP00000359763:K514E;ENSP00000359765:K514E;ENSP00000359762:K514E;ENSP00000359760:K514E;ENSP00000359758:K514E;ENSP00000353006:K514E;ENSP00000359750:K514E;ENSP00000359748:K514E;ENSP00000322270:K514E;ENSP00000359752:K514E;ENSP00000378344:K514E;ENSP00000271029:K514E;ENSP00000337306:K514E	ENSP00000271029:K514E	K	+	1	0	LPHN2	82189337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	AAG		0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		29	67	0	0	0	0	29	67				
CLCA1	1179	broad.mit.edu	37	1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A	rs376517239		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:86961284G>A	ENST00000234701.3	+	13	2390	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	680					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.G680E(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463																																						uc001dlt.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2038-2040)GGA>GAA		chloride channel accessory 1 precursor							98.0	95.0	96.0					1																	86961284		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86961284G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2039G>A	1.37:g.86961284G>A	ENSP00000234701:p.Gly680Glu						p.G680E	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	12	2168	+		Lung NSC(277;0.239)	680					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2039G>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502789	0.44558	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02812	4.15;4.15	5.69	5.69	0.88448	.	0.198796	0.44688	D	0.000431	T	0.04318	0.0119	M	0.72118	2.19	0.35890	D	0.829583	D	0.64830	0.994	D	0.65140	0.932	T	0.41016	-0.9532	10	0.07990	T	0.79	-20.8824	9.1187	0.36773	0.1558:0.0:0.8442:0.0	.	680	A8K7I4	CLCA1_HUMAN	E	680	ENSP00000234701:G680E;ENSP00000378200:G680E	ENSP00000234701:G680E	G	+	2	0	CLCA1	86733872	0.991000	0.36638	0.978000	0.43139	0.557000	0.35523	2.376000	0.44292	2.840000	0.97914	0.655000	0.94253	GGA		0.463	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		22	40	0	0	0	0	22	40				
EVI5	7813	broad.mit.edu	37	1	93167773	93167773	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:93167773C>A	ENST00000370331.1	-	5	706		c.e5-1		EVI5_ENST00000540033.1_Splice_Site|EVI5_ENST00000543509.1_Splice_Site|RNU4-59P_ENST00000364447.1_RNA	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						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)		AAGAGTAAGCCTAAAAAGTAA	0.303																																						uc001dox.2		NA																	0				ovary(1)|breast(1)	2						c.e5-1		ecotropic viral integration site 5							54.0	52.0	53.0					1																	93167773		2202	4297	6499	SO:0001630	splice_region_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93167773C>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.697-1G>T	1.37:g.93167773C>A						EVI5_uc010otf.1_Splice_Site_p.A233_splice	p.A233_splice	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)	5	707	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)						A6NKX8|B9A6J0|Q9H1Y9	Splice_Site	SNP	ENST00000370331.1	37	c.697_splice	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275646	0.80580	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2211	0.65828	0.0:0.928:0.0:0.072	.	.	.	.	.	-1	.	.	.	-	.	.	EVI5	92940361	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.701000	0.84566	1.288000	0.44600	0.650000	0.86243	.		0.303	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	Intron	15	21	1	0	1.05e-09	1.31e-09	15	21				
GNAI3	2773	broad.mit.edu	37	1	110129355	110129355	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:110129355G>A	ENST00000369851.4	+	7	835	c.725G>A	c.(724-726)cGa>cAa	p.R242Q		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	242					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)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	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)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTTCAGAACCGAATGCATGAA	0.318																																						uc001dxz.2		NA																	0				ovary(1)	1						c.(724-726)CGA>CAA		guanine nucleotide binding protein (G protein),							47.0	47.0	47.0					1																	110129355		2203	4297	6500	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110129355G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.725G>A	1.37:g.110129355G>A	ENSP00000358867:p.Arg242Gln						p.R242Q	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	7	882	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	242					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.725G>A	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581986	0.96578	.	.	ENSG00000065135	ENST00000369851	D	0.92048	-2.96	5.42	5.42	0.78866	.	0.127921	0.56097	D	0.000034	D	0.96364	0.8814	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96477	0.9353	10	0.87932	D	0	.	19.1889	0.93656	0.0:0.0:1.0:0.0	.	242	P08754	GNAI3_HUMAN	Q	242	ENSP00000358867:R242Q	ENSP00000358867:R242Q	R	+	2	0	GNAI3	109930878	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	CGA		0.318	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		16	26	0	0	0	0	16	26				
WARS2	10352	broad.mit.edu	37	1	119575893	119575893	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:119575893C>A	ENST00000235521.4	-	6	750	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	WARS2_ENST00000537870.1_Missense_Mutation_p.D148Y|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	242					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCTGGGCTGTCTGTTATTCGG	0.517																																						uc001ehn.2		NA																	0					0						c.(724-726)GAC>TAC		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						152.0	142.0	145.0					1																	119575893		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575893C>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.724G>T	1.37:g.119575893C>A	ENSP00000235521:p.Asp242Tyr					WARS2_uc010oxf.1_Missense_Mutation_p.D148Y|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.D185Y|WARS2_uc010oxh.1_3'UTR	p.D242Y	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	752	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	242					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.724G>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025534	0.93518	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.60548	0.18;0.18	5.87	5.87	0.94306	.	0.086182	0.85682	D	0.000000	D	0.84401	0.5464	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89039	0.3447	10	0.87932	D	0	-27.3781	20.206	0.98277	0.0:1.0:0.0:0.0	.	185;242	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	Y	242;148	ENSP00000235521:D242Y;ENSP00000438807:D148Y	ENSP00000235521:D242Y	D	-	1	0	WARS2	119377416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.785000	0.95823	0.655000	0.94253	GAC		0.517	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		50	91	1	0	4.01e-20	5.57e-20	50	91				
SNX27	81609	broad.mit.edu	37	1	151611499	151611499	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151611499G>T	ENST00000458013.2	+	2	567	c.447G>T	c.(445-447)tcG>tcT	p.S149S	SNX27_ENST00000368838.1_Silent_p.S56S|SNX27_ENST00000368843.3_Silent_p.S149S			Q96L92	SNX27_HUMAN	sorting nexin family member 27	149					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGACGACTCGTTGGGACAAT	0.468																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(445-447)TCG>TCT		sorting nexin family member 27							127.0	113.0	118.0					1																	151611499		2203	4300	6503	SO:0001819	synonymous_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611499G>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.447G>T	1.37:g.151611499G>T						SNX27_uc001eyo.2_Silent_p.S56S|SNX27_uc001eyp.2_5'UTR	p.S149S	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	463	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		149					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37	c.447G>T																																																																																					0.468	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		25	53	1	0	1.64e-13	2.17e-13	25	53				
LINGO4	339398	broad.mit.edu	37	1	151774763	151774763	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:151774763G>A	ENST00000368820.3	-	2	1355	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	140						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTTGAGGCGGAGGTCCAGC	0.582																																						uc001ezf.1		NA																	0				large_intestine(1)	1						c.(418-420)CGC>TGC		leucine rich repeat and Ig domain containing 4							75.0	82.0	79.0					1																	151774763		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774763G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.418C>T	1.37:g.151774763G>A	ENSP00000357810:p.Arg140Cys						p.R140C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	608	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		140			Extracellular (Potential).|LRR 4.			Missense_Mutation	SNP	ENST00000368820.3	37	c.418C>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085559	0.55861	.	.	ENSG00000213171	ENST00000368820	T	0.80304	-1.36	5.13	4.16	0.48862	.	0.135863	0.34291	N	0.004083	T	0.80243	0.4587	L	0.48260	1.515	0.80722	D	1	D	0.65815	0.995	P	0.59595	0.86	T	0.82182	-0.0584	10	0.87932	D	0	.	12.626	0.56630	0.0:0.0:0.8247:0.1753	.	140	Q6UY18	LIGO4_HUMAN	C	140	ENSP00000357810:R140C	ENSP00000357810:R140C	R	-	1	0	LINGO4	150041387	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.494000	0.66905	2.681000	0.91329	0.462000	0.41574	CGC		0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		35	69	0	0	0	0	35	69				
FLG	2312	broad.mit.edu	37	1	152284331	152284331	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:152284331C>G	ENST00000368799.1	-	3	3066	c.3031G>C	c.(3031-3033)Gag>Cag	p.E1011Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1011	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)			GAGGAAGTCTCTGCGTGAGGA	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3031-3033)GAG>CAG		filaggrin							316.0	318.0	317.0					1																	152284331		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.chr1:152284331C>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.3031G>C	1.37:g.152284331C>G	ENSP00000357789:p.Glu1011Gln					uc001ezv.2_5'Flank	p.E1011Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3067	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1011			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3031G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	3.865	-0.029064	0.07589	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00882	5.58	2.11	-0.0467	0.13846	.	.	.	.	.	T	0.00241	0.0007	L	0.28740	0.885	0.09310	N	1	B	0.32051	0.354	B	0.18561	0.022	T	0.22173	-1.0224	9	0.13470	T	0.59	.	7.9897	0.30233	0.0:0.4505:0.5495:0.0	.	1011	P20930	FILA_HUMAN	Q	1011;218	ENSP00000357789:E1011Q	ENSP00000357789:E1011Q	E	-	1	0	FLG	150550955	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.166000	0.03129	0.008000	0.14787	0.291000	0.19559	GAG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		138	260	0	0	0	0	138	260				
OR10T2	128360	broad.mit.edu	37	1	158369186	158369186	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:158369186A>T	ENST00000334438.1	-	1	70	c.71T>A	c.(70-72)cTc>cAc	p.L24H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	24						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(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAGCAGCTGGAGCTCCCCCAG	0.483																																						uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(70-72)CTC>CAC		olfactory receptor, family 10, subfamily T,							35.0	39.0	38.0					1																	158369186		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369186A>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.71T>A	1.37:g.158369186A>T	ENSP00000334115:p.Leu24His						p.L24H	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	71	-	all_hematologic(112;0.0378)		24			Extracellular (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.71T>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518723	0.27211	.	.	ENSG00000186306	ENST00000334438	T	0.05580	3.42	4.65	4.65	0.58169	.	0.238706	0.21540	U	0.072916	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.62014	0.897	T	0.36383	-0.9750	10	0.31617	T	0.26	.	12.061	0.53562	1.0:0.0:0.0:0.0	.	24	Q8NGX3	O10T2_HUMAN	H	24	ENSP00000334115:L24H	ENSP00000334115:L24H	L	-	2	0	OR10T2	156635810	0.028000	0.19301	0.209000	0.23619	0.986000	0.74619	3.229000	0.51278	1.939000	0.56221	0.482000	0.46254	CTC		0.483	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		11	29	0	0	0	0	11	29				
IGSF9	57549	broad.mit.edu	37	1	159898079	159898079	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:159898079G>A	ENST00000368094.1	-	19	3296	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	IGSF9_ENST00000361509.3_Silent_p.F1017F|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000478033.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1033					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCGCAGGAACGAAGCGC	0.697																																						uc001fur.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3097-3099)TTC>TTT		immunoglobulin superfamily, member 9 isoform a							17.0	18.0	17.0					1																	159898079		2192	4276	6468	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159898079G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3099C>T	1.37:g.159898079G>A						IGSF9_uc001fuq.2_Silent_p.F1017F|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F179F	p.F1033F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		19	3297	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1033			Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.3099C>T	CCDS44254.1																																																																																				0.697	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		13	17	0	0	0	0	13	17				
FCGR3A	2214	broad.mit.edu	37	1	161599754	161599754	+	Intron	SNP	G	G	C	rs376361357		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:161599754G>C	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L81V|FCGR3B_ENST00000367964.2_Missense_Mutation_p.L45V|FCGR3B_ENST00000294800.3_Missense_Mutation_p.L45V|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		11406	0.0		0.001	False		,,,				2504	0.0					uc009wul.2		NA																	0					0						c.(133-135)CTG>GTG		low affinity immunoglobulin gamma Fc region	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)	G	VAL/LEU	0,4304		0,0,2152	69.0	77.0	74.0		133	2.8	0.5	1		74	1,8583	1.2+/-3.3	0,1,4291	no	missense	FCGR3B	NM_000570.4	32	0,1,6443	CC,CG,GG		0.0116,0.0,0.0078	probably-damaging	45/234	161599754	1,12887	2152	4292	6444	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599754G>C	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+403C>G	1.37:g.161599754G>C							p.L45V	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	407	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		45			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.133C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058035|3.058035	0.55325|0.55325	0.0|0.0	1.16E-4|1.16E-4	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.20332|.	2.08;2.08;2.08;2.08|.	2.79|2.79	2.79|2.79	0.32731|0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.44688|.	D|.	0.000430|.	T|T	0.60261|0.60261	0.2255|0.2255	M|M	0.91612|0.91612	3.225|3.225	0.28776|0.28776	N|N	0.900127|0.900127	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.56306|0.56306	-0.8001|-0.8001	10|5	0.87932|.	D|.	0|.	.|.	9.21|9.21	0.37313|0.37313	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45|.	O75015|.	FCG3B_HUMAN|.	V|C	45;45;81;28|65	ENSP00000356941:L45V;ENSP00000294800:L45V;ENSP00000433642:L81V;ENSP00000437084:L28V|.	ENSP00000294800:L45V|.	L|S	-|-	1|2	2|0	FCGR3B|FCGR3B	159866378|159866378	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.384000|0.384000	0.30261|0.30261	2.027000|2.027000	0.41078|0.41078	1.564000|1.564000	0.49628|0.49628	0.388000|0.388000	0.25769|0.25769	CTG|TCT		0.532	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		24	74	0	0	0	0	24	74				
PRRX1	5396	broad.mit.edu	37	1	170633413	170633413	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:170633413C>A	ENST00000239461.6	+	1	367	c.54C>A	c.(52-54)cgC>cgA	p.R18R	PRRX1_ENST00000367760.3_Silent_p.R18R|PRRX1_ENST00000497230.2_Silent_p.R18R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	18					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGCGGCCGCTTGGACAGCC	0.662																																						uc001ghf.2		NA																	0				ovary(1)	1						c.(52-54)CGC>CGA		paired mesoderm homeobox 1 isoform pmx-1b							27.0	29.0	28.0					1																	170633413		2202	4300	6502	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170633413C>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.54C>A	1.37:g.170633413C>A						PRRX1_uc001ghe.2_Silent_p.R18R	p.R18R	NM_022716	NP_073207	P54821	PRRX1_HUMAN			1	101	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		18					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.54C>A	CCDS1290.1																																																																																				0.662	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		14	19	1	0	6.32e-08	7.58e-08	14	19				
TNN	63923	broad.mit.edu	37	1	175092651	175092651	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:175092651T>A	ENST00000239462.4	+	12	2879	c.2766T>A	c.(2764-2766)gcT>gcA	p.A922A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	922	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				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)		ACACCTCTGCTGACGGAGAGA	0.597																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2764-2766)GCT>GCA		tenascin N precursor							91.0	78.0	82.0					1																	175092651		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092651T>A	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.2766T>A	1.37:g.175092651T>A							p.A922A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2879	+		Breast(1374;0.000962)	922			Fibronectin type-III 8.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2766T>A	CCDS30943.1																																																																																				0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		17	59	0	0	0	0	17	59				
PAPPA2	60676	broad.mit.edu	37	1	176526361	176526361	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:176526361C>A	ENST00000367662.3	+	2	2067	c.903C>A	c.(901-903)aaC>aaA	p.N301K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N301K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	301					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						GACAGAACAACCCAGCCATCA	0.577																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(901-903)AAC>AAA		pappalysin 2 isoform 1							11.0	11.0	11.0					1																	176526361		1958	4149	6107	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526361C>A	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.903C>A	1.37:g.176526361C>A	ENSP00000356634:p.Asn301Lys					PAPPA2_uc001gky.1_Missense_Mutation_p.N301K|PAPPA2_uc009www.2_RNA	p.N301K	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	2067	+			301					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.903C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248268	0.59103	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73681	-0.77;-0.77	4.8	3.89	0.44902	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.114754	0.56097	D	0.000023	T	0.76499	0.3996	L	0.52759	1.655	0.44323	D	0.997205	P;D	0.58268	0.65;0.982	P;P	0.55055	0.493;0.767	T	0.76427	-0.2963	10	0.54805	T	0.06	-11.5042	10.3897	0.44162	0.0:0.9055:0.0:0.0944	.	301;301	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	K	301	ENSP00000356634:N301K;ENSP00000356633:N301K	ENSP00000356633:N301K	N	+	3	2	PAPPA2	174792984	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	2.515000	0.45512	1.014000	0.39417	0.313000	0.20887	AAC		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	13	1	0	0.000602214	0.000648391	4	13				
F13B	2165	broad.mit.edu	37	1	197030098	197030098	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:197030098C>A	ENST00000367412.1	-	4	602	c.559G>T	c.(559-561)Gct>Tct	p.A187S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	187	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTCCTCCAGCTGTGTAGTAG	0.388																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(559-561)GCT>TCT		coagulation factor XIII B subunit precursor							224.0	204.0	211.0					1																	197030098		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030098C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.559G>T	1.37:g.197030098C>A	ENSP00000356382:p.Ala187Ser						p.A187S	NM_001994	NP_001985	P05160	F13B_HUMAN			4	603	-			187			Sushi 3.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.559G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406092	0.42715	.	.	ENSG00000143278	ENST00000367412	T	0.62639	0.01	6.03	0.129	0.14739	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50990	0.1648	L	0.44542	1.39	0.09310	N	1	P	0.46020	0.871	P	0.49799	0.622	T	0.41698	-0.9494	9	0.08179	T	0.78	.	2.0509	0.03571	0.126:0.3759:0.124:0.3741	.	187	P05160	F13B_HUMAN	S	187	ENSP00000356382:A187S	ENSP00000356382:A187S	A	-	1	0	F13B	195296721	0.000000	0.05858	0.064000	0.19789	0.031000	0.12232	-0.160000	0.10041	0.110000	0.17919	0.557000	0.71058	GCT		0.388	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		30	84	1	0	3.17e-13	4.17e-13	30	84				
PTPRC	5788	broad.mit.edu	37	1	198687375	198687375	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:198687375A>G	ENST00000367376.2	+	14	1768	c.1597A>G	c.(1597-1599)Aag>Gag	p.K533E	PTPRC_ENST00000352140.3_Missense_Mutation_p.K485E|PTPRC_ENST00000348564.6_Missense_Mutation_p.K374E|PTPRC_ENST00000594404.1_Missense_Mutation_p.K372E|PTPRC_ENST00000442510.2_Missense_Mutation_p.K535E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	533	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAGTCGCATAAGAATTGCGA	0.398																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1597-1599)AAG>GAG		protein tyrosine phosphatase, receptor type, C							75.0	72.0	73.0					1																	198687375		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687375A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1597A>G	1.37:g.198687375A>G	ENSP00000356346:p.Lys533Glu					PTPRC_uc001gus.1_Missense_Mutation_p.K485E|PTPRC_uc001gut.1_Missense_Mutation_p.K372E|PTPRC_uc009wzf.1_Missense_Mutation_p.K421E|PTPRC_uc010ppg.1_Missense_Mutation_p.K469E	p.K533E	NM_002838	NP_002829	P08575	PTPRC_HUMAN			14	1777	+			533			Extracellular (Potential).|Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1597A>G		.	.	.	.	.	.	.	.	.	.	A	0.193	-1.051358	0.01981	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.57107	0.42	4.26	-8.51	0.00923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.491170	0.01145	N	0.006290	T	0.24812	0.0602	N	0.13235	0.315	0.09310	N	1	B;B;B;B;B	0.12630	0.005;0.006;0.0;0.0;0.0	B;B;B;B;B	0.17433	0.008;0.018;0.004;0.002;0.002	T	0.39078	-0.9631	10	0.05525	T	0.97	.	2.2151	0.03957	0.2304:0.3717:0.0917:0.3061	.	469;469;374;485;533	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	E	535;469;485;485;419;533;467;372	ENSP00000193532:K485E	ENSP00000306782:K372E	K	+	1	0	PTPRC	196953998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.264000	0.01173	-3.876000	0.00096	-2.927000	0.00089	AAG		0.398	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				12	22	0	0	0	0	12	22				
KIF21B	23046	broad.mit.edu	37	1	200954076	200954076	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:200954076G>C	ENST00000422435.2	-	27	4030	c.3714C>G	c.(3712-3714)ccC>ccG	p.P1238P	KIF21B_ENST00000332129.2_Silent_p.P1238P|KIF21B_ENST00000360529.5_Silent_p.P1238P|KIF21B_ENST00000461742.2_Silent_p.P1238P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1238					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGATGATGGGGGTGTGAATC	0.612																																						uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(3712-3714)CCC>CCG		kinesin family member 21B							84.0	76.0	79.0					1																	200954076		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954076G>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3714C>G	1.37:g.200954076G>C						KIF21B_uc001gvr.1_Silent_p.P1238P|KIF21B_uc009wzl.1_Silent_p.P1238P|KIF21B_uc010ppn.1_Silent_p.P1238P	p.P1238P	NM_017596	NP_060066	O75037	KI21B_HUMAN			27	4031	-			1238					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3714C>G	CCDS58056.1																																																																																				0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		14	52	0	0	0	0	14	52				
AVPR1B	553	broad.mit.edu	37	1	206224591	206224591	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:206224591G>C	ENST00000367126.4	+	1	616	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	51					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGACCGGGGGCAACCTGGC	0.682																																						uc001hds.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(151-153)GGC>CGC		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						61.0	69.0	66.0					1																	206224591		2203	4299	6502	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224591G>C	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.151G>C	1.37:g.206224591G>C	ENSP00000356094:p.Gly51Arg						p.G51R	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	309	+			51			Helical; Name=1; (Potential).		B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.151G>C	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009249	0.75046	.	.	ENSG00000198049	ENST00000367126	T	0.56941	0.43	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.083632	0.51477	D	0.000095	T	0.78861	0.4350	H	0.95079	3.62	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	D	0.83925	0.0303	10	0.87932	D	0	-34.5263	11.2522	0.49032	0.0848:0.0:0.9152:0.0	.	51	P47901	V1BR_HUMAN	R	51	ENSP00000356094:G51R	ENSP00000356094:G51R	G	+	1	0	AVPR1B	204391214	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.859000	0.86982	2.517000	0.84864	0.514000	0.50259	GGC		0.682	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		21	59	0	0	0	0	21	59				
IL24	11009	broad.mit.edu	37	1	207072725	207072725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207072725C>A	ENST00000294984.2	+	3	379	c.105C>A	c.(103-105)tgC>tgA	p.C35*	IL24_ENST00000367093.3_Nonsense_Mutation_p.C36*|IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Nonsense_Mutation_p.C36*	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	35					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|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)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					TGCTCCCTTGCCTGGGTTTTA	0.592																																						uc001hes.1		NA																	0					0						c.(103-105)TGC>TGA		interleukin 24 isoform 1 precursor							69.0	69.0	69.0					1																	207072725		2203	4300	6503	SO:0001587	stop_gained	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072725C>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.105C>A	1.37:g.207072725C>A	ENSP00000294984:p.Cys35*					IL24_uc001het.1_Intron|IL24_uc001heu.1_Nonsense_Mutation_p.C36*|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Nonsense_Mutation_p.C36*|IL24_uc001hex.1_Intron	p.C35*	NM_006850	NP_006841	Q13007	IL24_HUMAN			3	379	+	Breast(84;0.201)		35					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.105C>A	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111938	0.77210	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.46	1.5	0.22942	.	1.239420	0.05306	N	0.523880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0277	0.09695	0.0:0.5875:0.1988:0.2137	.	.	.	.	X	36;35;36	.	ENSP00000294984:C35X	C	+	3	2	IL24	205139348	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.000000	0.12993	0.591000	0.29711	-0.251000	0.11542	TGC		0.592	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		22	46	1	0	1.18e-14	1.58e-14	22	46				
CR2	1380	broad.mit.edu	37	1	207649656	207649656	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:207649656G>A	ENST00000367058.3	+	14	2806	c.2617G>A	c.(2617-2619)Gga>Aga	p.G873R	CR2_ENST00000367057.3_Missense_Mutation_p.G932R|CR2_ENST00000458541.2_Missense_Mutation_p.G846R|CR2_ENST00000367059.3_Intron	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	873	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTTTCTCCTGGAATGTCAAT	0.527																																						uc001hfw.2		NA																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2617-2619)GGA>AGA		complement component (3d/Epstein Barr virus)							139.0	126.0	131.0					1																	207649656		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207649656G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2617G>A	1.37:g.207649656G>A	ENSP00000356025:p.Gly873Arg					CR2_uc001hfv.2_Missense_Mutation_p.G932R|CR2_uc009xch.2_Intron	p.G873R	NM_001877	NP_001868	P20023	CR2_HUMAN			14	2711	+			873			Sushi 14.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2617G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937849	0.73557	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	T;T;T	0.71698	-0.59;-0.59;-0.59	4.87	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84447	0.5474	M	0.84156	2.68	0.46725	D	0.999176	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86495	0.1800	9	0.87932	D	0	.	14.2451	0.65983	0.0:0.0:1.0:0.0	.	873;932	P20023;P20023-3	CR2_HUMAN;.	R	873;932;846	ENSP00000356025:G873R;ENSP00000356024:G932R;ENSP00000404222:G846R	ENSP00000356024:G932R	G	+	1	0	CR2	205716279	1.000000	0.71417	0.995000	0.50966	0.727000	0.41649	4.943000	0.63554	2.643000	0.89663	0.655000	0.94253	GGA		0.527	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		25	76	0	0	0	0	25	76				
USH2A	7399	broad.mit.edu	37	1	215901506	215901506	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:215901506C>G	ENST00000307340.3	-	61	12318	c.11932G>C	c.(11932-11934)Gct>Cct	p.A3978P	USH2A_ENST00000366943.2_Missense_Mutation_p.A3978P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3978	Fibronectin type-III 25. {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)		ACTGAATGAGCACTCGTGGCT	0.488										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11932-11934)GCT>CCT		usherin isoform B							100.0	97.0	98.0					1																	215901506		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.chr1:215901506C>G	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.11932G>C	1.37:g.215901506C>G	ENSP00000305941:p.Ala3978Pro	HNSCC(13;0.011)					p.A3978P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12319	-			3978			Fibronectin type-III 25.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11932G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130714	0.37630	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57107	0.42;0.42	5.53	2.54	0.30619	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.157981	0.29106	N	0.013125	T	0.40222	0.1108	L	0.33137	0.985	0.52099	D	0.999946	B	0.23442	0.085	B	0.26693	0.072	T	0.10613	-1.0622	10	0.25106	T	0.35	.	11.9347	0.52866	0.1327:0.5175:0.3498:0.0	.	3978	O75445	USH2A_HUMAN	P	3978	ENSP00000305941:A3978P;ENSP00000355910:A3978P	ENSP00000305941:A3978P	A	-	1	0	USH2A	213968129	1.000000	0.71417	0.862000	0.33874	0.835000	0.47333	1.839000	0.39220	0.242000	0.21303	0.591000	0.81541	GCT		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	63	0	0	0	0	37	63				
USH2A	7399	broad.mit.edu	37	1	216019335	216019335	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:216019335A>T	ENST00000307340.3	-	45	9272	c.8886T>A	c.(8884-8886)ctT>ctA	p.L2962L	USH2A_ENST00000366943.2_Silent_p.L2962L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2962	Fibronectin type-III 16. {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)		AACTCCAAAAAAGTGTGTAAT	0.398										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8884-8886)CTT>CTA		usherin isoform B							84.0	82.0	83.0					1																	216019335		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:216019335A>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.8886T>A	1.37:g.216019335A>T		HNSCC(13;0.011)					p.L2962L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	45	9273	-			2962			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8886T>A	CCDS31025.1																																																																																				0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	26	0	0	0	0	11	26				
FMN2	56776	broad.mit.edu	37	1	240255689	240255689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240255689C>T	ENST00000319653.9	+	1	510	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	94					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)			CGGCGGCTCCCGCGAAGATGT	0.622																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(280-282)CGC>TGC		formin 2							16.0	20.0	18.0					1																	240255689		2201	4299	6500	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.chr1:240255689C>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.280C>T	1.37:g.240255689C>T	ENSP00000318884:p.Arg94Cys					FMN2_uc010pye.1_Missense_Mutation_p.R94C	p.R94C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	505	+	Ovarian(103;0.127)	all_cancers(173;0.013)	94					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.280C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519921	0.27211	.	.	ENSG00000155816	ENST00000319653	T	0.36340	1.26	4.2	3.2	0.36748	.	0.100288	0.40640	N	0.001045	T	0.48132	0.1483	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	T	0.49184	-0.8966	10	0.87932	D	0	.	8.5789	0.33617	0.291:0.5859:0.123:0.0	.	94	Q9NZ56	FMN2_HUMAN	C	94	ENSP00000318884:R94C	ENSP00000318884:R94C	R	+	1	0	FMN2	238322312	1.000000	0.71417	0.976000	0.42696	0.889000	0.51656	3.871000	0.56077	2.037000	0.60232	0.313000	0.20887	CGC		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	14	0	0	0	0	7	14				
FMN2	56776	broad.mit.edu	37	1	240601394	240601394	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:240601394A>T	ENST00000319653.9	+	16	5174	c.4944A>T	c.(4942-4944)aaA>aaT	p.K1648N	FMN2_ENST00000545751.1_Missense_Mutation_p.K244N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1648	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			TCTTCATGAAACCAAAACTTG	0.383																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4942-4944)AAA>AAT		formin 2							137.0	135.0	136.0					1																	240601394		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.chr1:240601394A>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.4944A>T	1.37:g.240601394A>T	ENSP00000318884:p.Lys1648Asn					FMN2_uc010pye.1_Missense_Mutation_p.K1652N|FMN2_uc010pyg.1_Missense_Mutation_p.K244N	p.K1648N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5169	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1648			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4944A>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948370	0.73787	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.40476	1.03;1.03	6.0	4.88	0.63580	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000004	T	0.60235	0.2253	M	0.71206	2.165	0.80722	D	1	P;D;D	0.76494	0.946;0.993;0.999	P;D;D	0.75484	0.756;0.973;0.986	T	0.62243	-0.6895	10	0.72032	D	0.01	.	9.0107	0.36139	0.8596:0.0:0.1404:0.0	.	244;277;1648	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	N	1648;244;275;124	ENSP00000318884:K1648N;ENSP00000437918:K244N	ENSP00000318884:K1648N	K	+	3	2	FMN2	238668017	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.527000	0.35975	1.105000	0.41606	0.523000	0.50628	AAA		0.383	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		38	76	0	0	0	0	38	76				
CEP170	9859	broad.mit.edu	37	1	243289810	243289810	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:243289810T>C	ENST00000366542.1	-	20	4747	c.4696A>G	c.(4696-4698)Ata>Gta	p.I1566V	CEP170_ENST00000366544.1_Missense_Mutation_p.I1468V|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.I275V|CEP170_ENST00000366543.1_Missense_Mutation_p.I1442V|CEP170_ENST00000481987.1_Missense_Mutation_p.I302V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1566	Targeting to centrosomes.|Targeting to microtubules.					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)			TTGAAATGTATACTGAAATCA	0.438																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(4696-4698)ATA>GTA		centrosomal protein 170kDa isoform alpha							33.0	30.0	31.0					1																	243289810		1863	4093	5956	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243289810T>C	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.4696A>G	1.37:g.243289810T>C	ENSP00000355500:p.Ile1566Val					CEP170_uc001hzt.2_Missense_Mutation_p.I1442V|CEP170_uc001hzu.2_Missense_Mutation_p.I1468V|CEP170_uc001hzr.2_Missense_Mutation_p.I155V|CEP170_uc001hzv.1_Intron	p.I1566V	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)		20	5104	-	all_neural(11;0.101)	all_cancers(173;0.003)	1566			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.4696A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998343	0.74818	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000490813	T;T;T	0.49139	0.82;0.79;0.8	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	T	0.45054	0.1323	N	0.08118	0	0.42217	D	0.991834	P;P;P	0.49961	0.826;0.826;0.93	P;P;D	0.63877	0.811;0.811;0.919	T	0.45600	-0.9250	9	.	.	.	-17.532	13.6584	0.62352	0.0:0.0:0.0:1.0	.	1468;1442;1566	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	V	1566;1468;1442;302;275	ENSP00000355500:I1566V;ENSP00000355502:I1468V;ENSP00000355501:I1442V	.	I	-	1	0	CEP170	241356433	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.458000	0.66679	1.894000	0.54839	0.254000	0.18369	ATA		0.438	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		9	16	0	0	0	0	9	16				
OR11L1	391189	broad.mit.edu	37	1	248004808	248004808	+	Missense_Mutation	SNP	G	G	T	rs202119268		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248004808G>T	ENST00000355784.2	-	1	446	c.391C>A	c.(391-393)Cgc>Agc	p.R131S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	131						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587																																						uc001idn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(391-393)CGC>AGC		olfactory receptor, family 11, subfamily L,							47.0	43.0	44.0					1																	248004808		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004808G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.391C>A	1.37:g.248004808G>T	ENSP00000348033:p.Arg131Ser						p.R131S	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	391	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		131			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.391C>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116554	0.37339	.	.	ENSG00000197591	ENST00000355784	T	0.02216	4.39	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	U	0.001662	T	0.08802	0.0218	M	0.76002	2.32	0.22066	N	0.999385	P	0.46142	0.873	P	0.52217	0.693	T	0.01643	-1.1305	10	0.51188	T	0.08	.	17.1903	0.86877	0.0:0.0:1.0:0.0	.	131	Q8NGX0	O11L1_HUMAN	S	131	ENSP00000348033:R131S	ENSP00000348033:R131S	R	-	1	0	OR11L1	246071431	0.024000	0.19004	0.980000	0.43619	0.039000	0.13416	1.840000	0.39230	2.450000	0.82876	0.543000	0.68304	CGC		0.587	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		12	29	1	0	5.51e-06	6.26e-06	12	29				
OR11L1	391189	broad.mit.edu	37	1	248005080	248005080	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248005080A>G	ENST00000355784.2	-	1	174	c.119T>C	c.(118-120)aTa>aCa	p.I40T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	40						extracellular vesicular exosome (GO:0070062)|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)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTCCCTATAATGGTCAG	0.502																																						uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(118-120)ATA>ACA		olfactory receptor, family 11, subfamily L,							71.0	62.0	65.0					1																	248005080		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005080A>G	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.119T>C	1.37:g.248005080A>G	ENSP00000348033:p.Ile40Thr						p.I40T	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	119	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		40			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.119T>C	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.396040	0.00198	.	.	ENSG00000197591	ENST00000355784	T	0.00472	7.19	4.2	1.68	0.24146	.	0.974167	0.08312	N	0.965276	T	0.00178	0.0005	N	0.01431	-0.87	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26780	-1.0093	10	0.28530	T	0.3	.	4.2051	0.10485	0.5004:0.1768:0.3228:0.0	.	40	Q8NGX0	O11L1_HUMAN	T	40	ENSP00000348033:I40T	ENSP00000348033:I40T	I	-	2	0	OR11L1	246071703	0.000000	0.05858	0.010000	0.14722	0.033000	0.12548	0.491000	0.22419	0.129000	0.18514	-0.246000	0.11932	ATA		0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		14	28	0	0	0	0	14	28				
OR2T11	127077	broad.mit.edu	37	1	248790416	248790416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248790416G>C	ENST00000330803.2	-	1	75	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	5						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(5)|lung(20)|skin(2)	28	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)			GTCAGAGGATGATGTGTTCGT	0.547																																						uc001ier.1		NA																	0				lung(1)	1						c.(13-15)TCA>TGA		olfactory receptor, family 2, subfamily T,							35.0	42.0	39.0					1																	248790416		2030	4233	6263	SO:0001587	stop_gained	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790416G>C	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.14C>G	1.37:g.248790416G>C	ENSP00000328934:p.Ser5*						p.S5*	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	14	-	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)		5			Extracellular (Potential).		Q6IEY6	Nonsense_Mutation	SNP	ENST00000330803.2	37	c.14C>G	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.063119	0.76187	.	.	ENSG00000183130	ENST00000330803	.	.	.	4.23	2.36	0.29203	.	3.609830	0.00945	N	0.002896	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	4.5354	0.12026	0.2036:0.1838:0.6126:0.0	.	.	.	.	X	5	.	ENSP00000328934:S5X	S	-	2	0	OR2T11	246857039	0.001000	0.12720	0.016000	0.15963	0.067000	0.16453	0.716000	0.25836	0.531000	0.28639	-0.136000	0.14681	TCA		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		17	44	0	0	0	0	17	44				
OR2T27	403239	broad.mit.edu	37	1	248813780	248813780	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr1:248813780T>A	ENST00000344889.3	-	1	405	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCGGCTCATGAGGACAGGA	0.557																																						uc010pzo.1		NA																	0				skin(1)	1						c.(406-408)ATG>TTG		olfactory receptor, family 2, subfamily T,							84.0	55.0	65.0					1																	248813780		2200	4255	6455	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813780T>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.406A>T	1.37:g.248813780T>A	ENSP00000342008:p.Met136Leu						p.M136L	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	406	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	136			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.406A>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	7.925	0.739505	0.15642	.	.	ENSG00000187701	ENST00000344889	T	0.00578	6.44	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.01353	0.0044	M	0.90019	3.08	0.25532	N	0.987264	B	0.27594	0.182	B	0.29942	0.109	T	0.13442	-1.0509	10	0.66056	D	0.02	.	10.6274	0.45516	0.0:0.0:0.0:1.0	.	136	Q8NH04	O2T27_HUMAN	L	136	ENSP00000342008:M136L	ENSP00000342008:M136L	M	-	1	0	OR2T27	246880403	0.999000	0.42202	0.484000	0.27391	0.057000	0.15508	3.187000	0.50950	1.511000	0.48818	0.163000	0.16589	ATG		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		20	48	0	0	0	0	20	48				
SEPHS1	22929	broad.mit.edu	37	10	13378324	13378324	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:13378324G>A	ENST00000327347.5	-	4	699	c.324C>T	c.(322-324)ctC>ctT	p.L108L	SEPHS1_ENST00000537130.1_Silent_p.L41L|SEPHS1_ENST00000378614.4_Silent_p.L108L|SEPHS1_ENST00000494329.1_5'Flank|SEPHS1_ENST00000545675.1_Silent_p.L108L	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	108					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGAGGTCACTGAGGACATTGG	0.517																																						uc001imk.2		NA																	0				skin(1)	1						c.(322-324)CTC>CTT		selenophosphate synthetase 1							81.0	67.0	72.0					10																	13378324		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13378324G>A	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.324C>T	10.37:g.13378324G>A						SEPHS1_uc001imh.2_Silent_p.L32L|SEPHS1_uc010qbs.1_Silent_p.L60L|SEPHS1_uc001imi.2_Silent_p.L108L|SEPHS1_uc001imj.2_Silent_p.L108L|SEPHS1_uc010qbt.1_Silent_p.L41L|SEPHS1_uc009xje.2_Silent_p.L108L	p.L108L	NM_012247	NP_036379	P49903	SPS1_HUMAN			4	683	-			108					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.324C>T	CCDS7098.1																																																																																				0.517	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		10	69	0	0	0	0	10	69				
C1QL3	389941	broad.mit.edu	37	10	16562732	16562732	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16562732G>A	ENST00000298943.3	-	1	1272	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	111	Collagen-like.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCCCGGCCGCGTTCAggccgg	0.761																																						uc001ioj.1		NA																	0				ovary(1)	1						c.(331-333)AAC>AAT		complement component 1, q subcomponent-like 3							23.0	23.0	23.0					10																	16562732		2202	4296	6498	SO:0001819	synonymous_variant	389941					collagen		g.chr10:16562732G>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.333C>T	10.37:g.16562732G>A							p.N111N	NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN			1	1273	-			111			Collagen-like.		A0PJY4|A0PJY5	Silent	SNP	ENST00000298943.3	37	c.333C>T	CCDS31156.1																																																																																				0.761	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		6	48	0	0	0	0	6	48				
CUBN	8029	broad.mit.edu	37	10	16870935	16870935	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16870935C>G	ENST00000377833.4	-	66	10698	c.10633G>C	c.(10633-10635)Gct>Cct	p.A3545P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3545	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTTCCAGCAGGAGCAACA	0.522																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10633-10635)GCT>CCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						182.0	139.0	153.0					10																	16870935		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870935C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10633G>C	10.37:g.16870935C>G	ENSP00000367064:p.Ala3545Pro						p.A3545P	NM_001081	NP_001072	O60494	CUBN_HUMAN			66	10685	-			3545			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10633G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205250	0.22205	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.16897	2.31	5.85	-3.18	0.05186	CUB (5);	0.521652	0.16014	N	0.233654	T	0.11110	0.0271	N	0.13140	0.3	0.19575	N	0.999963	D	0.56746	0.977	P	0.54965	0.765	T	0.13335	-1.0513	10	0.29301	T	0.29	.	1.6521	0.02774	0.4498:0.1746:0.0878:0.2878	.	3545	O60494	CUBN_HUMAN	P	3545;386	ENSP00000367064:A3545P	ENSP00000367064:A3545P	A	-	1	0	CUBN	16910941	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.489000	0.06490	-1.017000	0.03367	-0.500000	0.04577	GCT		0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		65	44	0	0	0	0	65	44				
CUBN	8029	broad.mit.edu	37	10	16916401	16916401	+	Missense_Mutation	SNP	C	C	A	rs144314567		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:16916401C>A	ENST00000377833.4	-	58	9273	c.9208G>T	c.(9208-9210)Gtt>Ttt	p.V3070F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3070	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGTCACTAACGGTGATGGTA	0.403																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9208-9210)GTT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						222.0	180.0	194.0					10																	16916401		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16916401C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9208G>T	10.37:g.16916401C>A	ENSP00000367064:p.Val3070Phe					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.V426F	p.V3070F	NM_001081	NP_001072	O60494	CUBN_HUMAN			58	9260	-			3070			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9208G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537496	0.65085	.	.	ENSG00000107611	ENST00000377833	T	0.34667	1.35	5.23	5.23	0.72850	CUB (5);	0.409080	0.17703	N	0.164847	T	0.73628	0.3611	H	0.97240	3.965	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.82878	-0.0239	10	0.62326	D	0.03	.	17.9263	0.88985	0.0:1.0:0.0:0.0	.	3070	O60494	CUBN_HUMAN	F	3070	ENSP00000367064:V3070F	ENSP00000367064:V3070F	V	-	1	0	CUBN	16956407	0.947000	0.32204	0.010000	0.14722	0.015000	0.08874	4.211000	0.58507	2.592000	0.87571	0.655000	0.94253	GTT		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		27	156	1	0	0.000117367	0.000128836	27	156				
ARHGAP21	57584	broad.mit.edu	37	10	24880577	24880577	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:24880577C>A	ENST00000396432.2	-	23	4524	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E1133D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1345					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTACAAGAGGCTCTTCAGCAC	0.393																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.(4036-4038)GAG>GAT		Rho GTPase activating protein 21							99.0	102.0	101.0					10																	24880577		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880577C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4038G>T	10.37:g.24880577C>A	ENSP00000379709:p.Glu1346Asp					ARHGAP21_uc010qdb.1_RNA	p.E1346D	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			23	4525	-			1345					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4038G>T	CCDS7144.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.038|7.038	0.561962|0.561962	0.13498|0.13498	.|.	.|.	ENSG00000107863|ENSG00000107863	ENST00000418033|ENST00000396432;ENST00000447364;ENST00000320481	.|T;T	.|0.11063	.|2.81;2.92	5.55|5.55	-6.79|-6.79	0.01715|0.01715	.|.	.|0.148553	.|0.64402	.|D	.|0.000014	T|T	0.04048|0.04048	0.0113|0.0113	N|N	0.11818|0.11818	0.18|0.18	0.36446|0.36446	D|D	0.865787|0.865787	.|P	.|0.40144	.|0.704	.|B	.|0.34038	.|0.174	T|T	0.11324|0.11324	-1.0592|-1.0592	5|10	.|0.16420	.|T	.|0.52	.|.	15.6445|15.6445	0.77036|0.77036	0.0:0.7121:0.0907:0.1972|0.0:0.7121:0.0907:0.1972	.|.	.|1345	.|Q5T5U3	.|RHG21_HUMAN	S|D	160|1346;795;1133	.|ENSP00000379709:E1346D;ENSP00000365604:E1133D	.|ENSP00000365604:E1133D	A|E	-|-	1|3	0|2	ARHGAP21|ARHGAP21	24920583|24920583	0.005000|0.005000	0.15991|0.15991	0.864000|0.864000	0.33941|0.33941	0.840000|0.840000	0.47671|0.47671	-1.794000|-1.794000	0.01753|0.01753	-1.316000|-1.316000	0.02295|0.02295	-0.471000|-0.471000	0.05019|0.05019	GCC|GAG		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		33	161	1	0	8.74e-17	1.19e-16	33	161				
GPR158	57512	broad.mit.edu	37	10	25885717	25885717	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:25885717G>A	ENST00000376351.3	+	10	2503	c.2144G>A	c.(2143-2145)cGg>cAg	p.R715Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	715					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGACATTCGGGTAATGCCA	0.488																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2143-2145)CGG>CAG		G protein-coupled receptor 158 precursor							108.0	92.0	98.0					10																	25885717		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25885717G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2145+1G>A	10.37:g.25885717G>A						GPR158_uc001isk.2_Missense_Mutation_p.R90Q	p.R715Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2204	+			715			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2144G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.803595	0.96960	.	.	ENSG00000151025	ENST00000376351	T	0.65732	-0.17	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000005	T	0.81513	0.4838	M	0.77103	2.36	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.81075	-0.1097	10	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	715	Q5T848	GP158_HUMAN	Q	715	ENSP00000365529:R715Q	ENSP00000365529:R715Q	R	+	2	0	GPR158	25925723	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.509000	0.81698	2.937000	0.99478	0.650000	0.86243	CGG		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	87	63	0	0	0	0	87	63				
RET	5979	broad.mit.edu	37	10	43608405	43608405	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:43608405T>A	ENST00000355710.3	+	9	1985	c.1753T>A	c.(1753-1755)Tgc>Agc	p.C585S	RET_ENST00000340058.5_Missense_Mutation_p.C585S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	585					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCTCAGGACTGCCTCCGTAA	0.572		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1753-1755)TGC>AGC		ret proto-oncogene isoform a	Sunitinib(DB01268)						111.0	86.0	95.0					10																	43608405		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43608405T>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1753T>A	10.37:g.43608405T>A	ENSP00000347942:p.Cys585Ser					RET_uc001jak.1_Missense_Mutation_p.C585S|RET_uc010qez.1_Missense_Mutation_p.C331S	p.C585S	NM_020975	NP_066124	P07949	RET_HUMAN			9	1943	+		Ovarian(717;0.0423)	585			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1753T>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031361	0.75504	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	D;D;D	0.99840	-3.37;-7.08;-3.49	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	D	0.96718	0.9530	10	0.87932	D	0	.	14.736	0.69416	0.0:0.0:0.0:1.0	.	331;585;585	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	585;102;585	ENSP00000347942:C585S;ENSP00000419080:C102S;ENSP00000344798:C585S	ENSP00000344798:C585S	C	+	1	0	RET	42928411	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.500000	0.81588	1.899000	0.54978	0.379000	0.24179	TGC		0.572	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		13	27	0	0	0	0	13	27				
VSTM4	196740	broad.mit.edu	37	10	50255035	50255035	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:50255035A>C	ENST00000332853.4	-	7	853	c.830T>G	c.(829-831)gTc>gGc	p.V277G		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	277						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						TACCAGCGTGACTTTTCTCTG	0.453																																						uc001jhf.2		NA																	0					0						c.(829-831)GTC>GGC		hypothetical protein LOC196740 isoform 1							351.0	314.0	327.0					10																	50255035		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50255035A>C	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.830T>G	10.37:g.50255035A>C	ENSP00000331062:p.Val277Gly						p.V277G	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			7	859	-			277			Cytoplasmic (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.830T>G	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	A	7.574	0.667336	0.14710	.	.	ENSG00000165633	ENST00000332853	T	0.07216	3.21	5.92	3.57	0.40892	.	0.403463	0.25180	N	0.032537	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B	0.26935	0.164	B	0.25405	0.06	T	0.39921	-0.9590	10	0.87932	D	0	-16.3028	6.0801	0.19936	0.7797:0.0:0.0768:0.1435	.	277	Q8IW00	VSTM4_HUMAN	G	277	ENSP00000331062:V277G	ENSP00000331062:V277G	V	-	2	0	VSTM4	49925041	0.879000	0.30193	0.916000	0.36221	0.003000	0.03518	1.622000	0.36997	0.475000	0.27415	-0.388000	0.06559	GTC		0.453	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		60	143	0	0	0	0	60	143				
SGMS1	259230	broad.mit.edu	37	10	52103623	52103623	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:52103623G>A	ENST00000361781.2	-	7	1211	c.252C>T	c.(250-252)caC>caT	p.H84H	SGMS1_ENST00000361543.2_Silent_p.H84H|SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	90					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGTTGAGGTGCCCATTGG	0.512																																						uc001jje.2		NA																	0				ovary(1)|kidney(1)	2						c.(250-252)CAC>CAT		sphingomyelin synthase 1							114.0	100.0	105.0					10																	52103623		2203	4300	6503	SO:0001819	synonymous_variant	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103623G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.252C>T	10.37:g.52103623G>A						SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Silent_p.H84H|SGMS1_uc010qhl.1_RNA	p.H84H	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN			7	1206	-			90					Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	c.252C>T	CCDS7240.1																																																																																				0.512	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		22	54	0	0	0	0	22	54				
ANK3	288	broad.mit.edu	37	10	61828625	61828625	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:61828625C>T	ENST00000280772.2	-	37	12205	c.12014G>A	c.(12013-12015)gGt>gAt	p.G4005D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4005					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGTCTCACCACTAATTCC	0.433																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(12013-12015)GGT>GAT		ankyrin 3 isoform 1							111.0	108.0	109.0					10																	61828625		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828625C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12014G>A	10.37:g.61828625C>T	ENSP00000280772:p.Gly4005Asp					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.G4005D	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	12206	-			4005					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.12014G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795385	0.31777	.	.	ENSG00000151150	ENST00000280772	T	0.17213	2.29	5.72	5.72	0.89469	.	0.000000	0.42964	D	0.000623	T	0.24928	0.0605	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.01294	-1.1393	10	0.02654	T	1	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	4005	Q12955	ANK3_HUMAN	D	4005	ENSP00000280772:G4005D	ENSP00000280772:G4005D	G	-	2	0	ANK3	61498631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.812000	0.69194	2.711000	0.92665	0.655000	0.94253	GGT		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		38	88	0	0	0	0	38	88				
LRRTM3	347731	broad.mit.edu	37	10	68687991	68687991	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:68687991C>G	ENST00000361320.4	+	2	1895	c.1317C>G	c.(1315-1317)taC>taG	p.Y439*	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	439					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTTATCTACGTGTCATGGA	0.542																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1315-1317)TAC>TAG		leucine rich repeat transmembrane neuronal 3							88.0	86.0	87.0					10																	68687991		2203	4300	6503	SO:0001587	stop_gained	347731					integral to membrane		g.chr10:68687991C>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1317C>G	10.37:g.68687991C>G	ENSP00000355187:p.Tyr439*					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Nonsense_Mutation_p.Y439*	p.Y439*	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1867	+			439			Helical; (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	c.1317C>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	42	9.338125	0.99142	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	6.06	2.8	0.32819	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.044	0.42175	0.0:0.6956:0.0:0.3044	.	.	.	.	X	439	.	ENSP00000355187:Y439X	Y	+	3	2	LRRTM3	68357997	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.318000	0.19504	0.896000	0.36366	0.650000	0.86243	TAC		0.542	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		26	86	0	0	0	0	26	86				
GRID1	2894	broad.mit.edu	37	10	87487768	87487768	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:87487768C>A	ENST00000327946.7	-	10	1462	c.1377G>T	c.(1375-1377)caG>caT	p.Q459H	GRID1_ENST00000536331.1_Missense_Mutation_p.Q30H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	459					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						AGCGCTTGGGCTGTCCTAGGA	0.473										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1375-1377)CAG>CAT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						168.0	162.0	164.0					10																	87487768		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487768C>A	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.1377G>T	10.37:g.87487768C>A	ENSP00000330148:p.Gln459His	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.Q30H	p.Q459H	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1478	-			459			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1377G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624103	0.66901	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.11604	2.76;2.76	5.62	3.77	0.43336	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.051184	0.85682	D	0.000000	T	0.20941	0.0504	L	0.56124	1.755	0.58432	D	0.999996	D	0.55385	0.971	P	0.58331	0.837	T	0.00436	-1.1740	10	0.87932	D	0	.	8.6129	0.33813	0.0:0.6975:0.0:0.3025	.	459	Q9ULK0	GRID1_HUMAN	H	459;30	ENSP00000330148:Q459H;ENSP00000444455:Q30H	ENSP00000330148:Q459H	Q	-	3	2	GRID1	87477748	0.768000	0.28519	1.000000	0.80357	0.998000	0.95712	-0.064000	0.11636	0.731000	0.32448	0.650000	0.86243	CAG		0.473	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		38	54	1	0	1.23e-20	1.71e-20	38	54				
IFIT5	24138	broad.mit.edu	37	10	91177811	91177811	+	Silent	SNP	G	G	A	rs372927340		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:91177811G>A	ENST00000371795.4	+	2	1068	c.855G>A	c.(853-855)ctG>ctA	p.L285L	IFIT5_ENST00000416601.1_Silent_p.L237L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	285					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						CTTCTTTCCTGCATCACCAGA	0.423																																						uc010qnh.1		NA																	0					0						c.(853-855)CTG>CTA		interferon-induced protein with		G		0,4406		0,0,2203	83.0	86.0	85.0		855	4.7	1.0	10		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IFIT5	NM_012420.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		285/483	91177811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177811G>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.855G>A	10.37:g.91177811G>A						IFIT5_uc010qng.1_Silent_p.L237L	p.L285L	NM_012420	NP_036552	Q13325	IFIT5_HUMAN			2	1086	+			285					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.855G>A	CCDS7403.1																																																																																				0.423	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		33	35	0	0	0	0	33	35				
PLCE1	51196	broad.mit.edu	37	10	95995801	95995801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:95995801G>T	ENST00000371380.3	+	6	2579	c.2344G>T	c.(2344-2346)Gag>Tag	p.E782*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.E782*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E474*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E474*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	782	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCGAAGTCTGGAGACAGACGA	0.468																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(2344-2346)GAG>TAG		phospholipase C, epsilon 1 isoform 1							83.0	87.0	86.0					10																	95995801		1919	4118	6037	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95995801G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2344G>T	10.37:g.95995801G>T	ENSP00000360431:p.Glu782*					PLCE1_uc010qnx.1_Nonsense_Mutation_p.E782*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.E474*	p.E782*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			7	2978	+		Colorectal(252;0.0458)	782			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.2344G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	46	12.274832	0.99652	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	.	.	.	X	782;782;474;474	.	ENSP00000260766:E782X	E	+	1	0	PLCE1	95985791	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.216000	0.89764	2.517000	0.84864	0.650000	0.86243	GAG		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		15	16	1	0	1.36e-06	1.58e-06	15	16				
CYP2C8	1558	broad.mit.edu	37	10	96796938	96796938	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:96796938T>G	ENST00000371270.3	-	9	1514	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K372Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	474					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ACAATCCCTTTGGTAACTGCA	0.428																																						uc001kkb.2		NA																	0					0						c.(1420-1422)AAA>CAA		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						150.0	154.0	152.0					10																	96796938		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96796938T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1420A>C	10.37:g.96796938T>G	ENSP00000360317:p.Lys474Gln					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.K404Q|CYP2C8_uc010qob.1_Missense_Mutation_p.K388Q|CYP2C8_uc010qoc.1_Missense_Mutation_p.K372Q	p.K474Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	9	1515	-		Colorectal(252;0.0397)	474					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1420A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	4.644	0.119758	0.08881	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.12147	2.71;2.71	3.9	1.44	0.22558	.	0.405112	0.23949	U	0.042972	T	0.06962	0.0177	N	0.21282	0.65	0.09310	N	1	B;B;B	0.22851	0.002;0.076;0.001	B;B;B	0.20577	0.001;0.03;0.002	T	0.31752	-0.9932	10	0.27785	T	0.31	.	3.1855	0.06599	0.2058:0.1159:0.0:0.6782	.	372;442;474	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	Q	474;441;372	ENSP00000360317:K474Q;ENSP00000445062:K372Q	ENSP00000360317:K474Q	K	-	1	0	CYP2C8	96786928	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.254000	0.32897	0.169000	0.19679	-1.271000	0.01417	AAA		0.428	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		13	24	0	0	0	0	13	24				
SLIT1	6585	broad.mit.edu	37	10	98770785	98770785	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:98770785G>C	ENST00000266058.4	-	31	3551	c.3306C>G	c.(3304-3306)gtC>gtG	p.V1102V	SLIT1_ENST00000371070.4_Silent_p.V1102V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1102	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTAGCTGTTGACTTCATCCA	0.592																																						uc001kmw.2		NA																	0				ovary(4)	4						c.(3304-3306)GTC>GTG		slit homolog 1 precursor							150.0	86.0	108.0					10																	98770785		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98770785G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3306C>G	10.37:g.98770785G>C							p.V1102V	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	31	3558	-		Colorectal(252;0.162)	1102			EGF-like 5.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3306C>G	CCDS7453.1																																																																																				0.592	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	18	0	0	0	0	6	18				
SEC31B	25956	broad.mit.edu	37	10	102256959	102256959	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:102256959C>A	ENST00000370345.3	-	17	2166	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	690					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTCCACACTCCCTGAGCACAC	0.582																																						uc001krc.1		NA																	0				ovary(1)	1						c.(2068-2070)GGG>GTG		SEC31 homolog B							84.0	77.0	80.0					10																	102256959		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102256959C>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2069G>T	10.37:g.102256959C>A	ENSP00000359370:p.Gly690Val					SEC31B_uc010qpo.1_Missense_Mutation_p.G689V|SEC31B_uc001krd.1_Missense_Mutation_p.G227V|SEC31B_uc001krf.1_Missense_Mutation_p.G227V|SEC31B_uc001kre.1_Missense_Mutation_p.G227V|SEC31B_uc001krg.1_Missense_Mutation_p.G259V	p.G690V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	17	2171	-		Colorectal(252;0.117)	690			WD 7.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.2069G>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.731290	0.89390	.	.	ENSG00000075826	ENST00000370345	T	0.58358	0.34	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79962	-0.1582	10	0.87932	D	0	-9.7957	17.4829	0.87679	0.0:1.0:0.0:0.0	.	689;690	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	V	690	ENSP00000359370:G690V	ENSP00000359370:G690V	G	-	2	0	SEC31B	102246949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.916000	0.69981	2.394000	0.81467	0.537000	0.68136	GGG		0.582	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		15	43	1	0	7.93e-07	9.27e-07	15	43				
CALHM1	255022	broad.mit.edu	37	10	105218107	105218107	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:105218107G>A	ENST00000329905.5	-	1	538	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	134					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGCGCTCACGGGCACGGCAG	0.706																																						uc001kxe.2		NA																	0				ovary(1)	1						c.(400-402)CCC>CCT		calcium homeostasis modulator 1							26.0	25.0	25.0					10																	105218107		2201	4296	6497	SO:0001819	synonymous_variant	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218107G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.402C>T	10.37:g.105218107G>A							p.P134P	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN			1	542	-			134					Q5W091	Silent	SNP	ENST00000329905.5	37	c.402C>T	CCDS7550.1																																																																																				0.706	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		10	17	0	0	0	0	10	17				
HABP2	3026	broad.mit.edu	37	10	115350515	115350515	+	IGR	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:115350515A>G	ENST00000351270.3	+	0	3009				NRAP_ENST00000360478.3_Missense_Mutation_p.F1558S|NRAP_ENST00000369360.3_Missense_Mutation_p.F1566S|NRAP_ENST00000369358.4_Missense_Mutation_p.F1601S|NRAP_ENST00000359988.3_Missense_Mutation_p.F1593S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						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)	ACTCTTGGCAAAGTCCTTCTT	0.577																																						uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4777-4779)TTT>TCT		nebulin-related anchoring protein isoform S							141.0	128.0	133.0					10																	115350515		2203	4300	6503	SO:0001628	intergenic_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115350515A>G		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		10.37:g.115350515A>G						NRAP_uc009xyb.2_Missense_Mutation_p.F346S|NRAP_uc001lak.2_Missense_Mutation_p.F1558S|NRAP_uc001lal.3_Missense_Mutation_p.F1593S	p.F1593S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	40	4942	-		Colorectal(252;0.0233)|Breast(234;0.188)	1593			Nebulin 42.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.4778T>C	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181615	0.38511	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.69	5.69	0.88448	.	0.103874	0.64402	D	0.000002	T	0.44180	0.1281	L	0.43757	1.38	0.44825	D	0.997838	B;B;B;B	0.29508	0.246;0.095;0.078;0.095	B;B;B;B	0.40329	0.326;0.129;0.079;0.129	T	0.46303	-0.9201	10	0.41790	T	0.15	.	6.3266	0.21246	0.774:0.0:0.0756:0.1504	.	715;1593;1558;1593	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	S	1601;1566;1593;1558;715	ENSP00000358365:F1601S;ENSP00000358367:F1566S;ENSP00000353078:F1593S;ENSP00000353666:F1558S	ENSP00000353078:F1593S	F	-	2	0	NRAP	115340505	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.251000	0.43187	2.171000	0.68590	0.459000	0.35465	TTT		0.577	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		26	63	0	0	0	0	26	63				
ATRNL1	26033	broad.mit.edu	37	10	117061411	117061411	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:117061411G>T	ENST00000355044.3	+	17	2802	c.2676G>T	c.(2674-2676)ctG>ctT	p.L892L	ATRNL1_ENST00000423111.2_5'UTR|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	892	PSI 4.				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)		CATGCTCTCTGAGGACATCAT	0.378																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2674-2676)CTG>CTT		attractin-like 1 precursor							215.0	154.0	175.0					10																	117061411		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117061411G>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.2676G>T	10.37:g.117061411G>T						ATRNL1_uc010qsm.1_Silent_p.L67L|ATRNL1_uc010qsn.1_RNA	p.L892L	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)	17	3062	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	892			PSI 4.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2676G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	6.928	0.540893	0.13250	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.31	-1.39	0.08997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.6675	6.3049	0.21133	0.3708:0.2541:0.3751:0.0	.	.	.	.	X	22	.	.	E	+	1	0	ATRNL1	117051401	0.983000	0.35010	0.073000	0.20177	0.864000	0.49448	0.175000	0.16762	-0.532000	0.06332	-1.560000	0.00886	GAG		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		16	48	1	0	0.000308642	0.000335253	16	48				
PNLIPRP2	5408	broad.mit.edu	37	10	118386463	118386463	+	RNA	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:118386463T>A	ENST00000298771.7	+	0	444				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGCAAAACATTCGGGTTGTT	0.557																																						uc001lcq.2		NA																	0				large_intestine(1)	1						c.(421-423)ATT>AAT		pancreatic lipase-related protein 2							76.0	73.0	74.0					10																	118386463		1950	4194	6144			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118386463T>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118386463T>A						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.I141N	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	7	445	+			140					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.422T>A		.	.	.	.	.	.	.	.	.	.	T	8.369	0.834887	0.16820	.	.	ENSG00000165862	ENST00000537242	D	0.91894	-2.93	5.56	-1.33	0.09172	Lipase, N-terminal (1);	0.494295	0.17483	U	0.172643	D	0.94581	0.8254	.	.	.	0.24681	N	0.993369	D	0.89917	1.0	D	0.81914	0.995	D	0.89121	0.3503	9	0.66056	D	0.02	.	10.3395	0.43868	0.0:0.34:0.0:0.66	.	140	P54317	LIPR2_HUMAN	N	140	ENSP00000446346:I140N	ENSP00000446346:I140N	I	+	2	0	PNLIPRP2	118376453	0.978000	0.34361	0.036000	0.18154	0.067000	0.16453	1.003000	0.29809	-0.503000	0.06586	-0.441000	0.05720	ATT		0.557	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		8	11	0	0	0	0	8	11				
BTBD16	118663	broad.mit.edu	37	10	124036332	124036332	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124036332C>A	ENST00000260723.4	+	3	296	c.45C>A	c.(43-45)gtC>gtA	p.V15V	BTBD16_ENST00000368994.2_Silent_p.V16V	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	15										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACGCCGGGTCACTGGCTCAA	0.478																																						uc001lgc.1		NA																	0				skin(1)	1						c.(43-45)GTC>GTA		BTB (POZ) domain containing 16							96.0	95.0	95.0					10																	124036332		2203	4300	6503	SO:0001819	synonymous_variant	118663							g.chr10:124036332C>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.45C>A	10.37:g.124036332C>A						BTBD16_uc001lgd.1_Silent_p.V14V	p.V15V	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			3	296	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	15					A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	c.45C>A	CCDS31301.1																																																																																				0.478	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		22	92	1	0	1.96e-10	2.47e-10	22	92				
DMBT1	1755	broad.mit.edu	37	10	124399936	124399936	+	Silent	SNP	G	G	C	rs112912048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:124399936G>C	ENST00000338354.3	+	52	7042	c.6936G>C	c.(6934-6936)acG>acC	p.T2312T	DMBT1_ENST00000368955.3_Silent_p.T2302T|DMBT1_ENST00000330163.4_Silent_p.T1684T|DMBT1_ENST00000344338.3_Silent_p.T2302T|DMBT1_ENST00000368909.3_Silent_p.T2312T|DMBT1_ENST00000368956.2_Silent_p.T1684T|DMBT1_ENST00000359586.6_Silent_p.T1032T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2312	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)				ATGACTTCACGTCTTTGACTT	0.458																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(6934-6936)ACG>ACC		deleted in malignant brain tumors 1 isoform b							67.0	65.0	66.0					10																	124399936		2052	4205	6257	SO:0001819	synonymous_variant	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.chr10:124399936G>C		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.6936G>C	10.37:g.124399936G>C						DMBT1_uc001lgl.1_Silent_p.T2302T|DMBT1_uc001lgm.1_Silent_p.T1684T|DMBT1_uc009xzz.1_Silent_p.T2311T|DMBT1_uc010qtx.1_Silent_p.T1032T|DMBT1_uc009yab.1_Silent_p.T1015T|DMBT1_uc009yac.1_Silent_p.T606T	p.T2312T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	7042	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2312			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6936G>C																																																																																					0.458	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		19	40	0	0	0	0	19	40				
FAM53B	9679	broad.mit.edu	37	10	126370314	126370314	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:126370314C>A	ENST00000337318.3	-	4	979	c.768G>T	c.(766-768)ctG>ctT	p.L256L	FAM53B_ENST00000280780.6_Silent_p.L256L|FAM53B_ENST00000392754.3_Silent_p.L256L|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	256										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCGTCTCGCCAGCTCTGGTG	0.587																																						uc001lhv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(766-768)CTG>CTT		hypothetical protein LOC9679							29.0	29.0	29.0					10																	126370314		2203	4299	6502	SO:0001819	synonymous_variant	9679							g.chr10:126370314C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.768G>T	10.37:g.126370314C>A						FAM53B_uc001lhu.1_Silent_p.L256L|FAM53B_uc001lhw.2_Silent_p.L256L	p.L256L	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1291	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	256					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	37	c.768G>T	CCDS7641.1																																																																																				0.587	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		4	13	1	0	3.6e-05	4.01e-05	4	13				
ADAM8	101	broad.mit.edu	37	10	135086312	135086312	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr10:135086312T>A	ENST00000445355.3	-	8	745	c.695A>T	c.(694-696)cAc>cTc	p.H232L	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.H232L|ADAM8_ENST00000485491.2_Missense_Mutation_p.H193L	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	232	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTTGTCCACGTGATTCACCAC	0.672																																						uc010qva.1		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(577-579)CAC>CTC		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							66.0	60.0	62.0					10																	135086312		2197	4295	6492	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086312T>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.695A>T	10.37:g.135086312T>A	ENSP00000453302:p.His232Leu					ADAM8_uc010quz.1_Missense_Mutation_p.H232L|ADAM8_uc009ybi.2_Missense_Mutation_p.H232L|ADAM8_uc010qvb.1_Missense_Mutation_p.H207L|ADAM8_uc009ybj.1_RNA	p.H193L			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	7	629	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	193					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.578A>T	CCDS31319.2																																																																																				0.672	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		14	23	0	0	0	0	14	23				
PHRF1	57661	broad.mit.edu	37	11	608731	608731	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:608731G>T	ENST00000264555.5	+	14	3403	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1091L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1090L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1088L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1092	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCCGGTCGCGGTCGGGGAGC	0.632																																						uc001lqe.2		NA																	0					0						c.(3274-3276)CGG>CTG		PHD and ring finger domains 1							13.0	19.0	17.0					11																	608731		2136	4220	6356	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608731G>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3275G>T	11.37:g.608731G>T	ENSP00000264555:p.Arg1092Leu					PHRF1_uc010qwc.1_Missense_Mutation_p.R1091L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1090L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1088L|PHRF1_uc009ybz.1_Missense_Mutation_p.R882L|PHRF1_uc009yca.1_RNA	p.R1092L	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3406	+			1092			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3275G>T		.	.	.	.	.	.	.	.	.	.	G	10.28	1.306283	0.23736	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	3.9	1.96	0.26148	.	0.166180	0.29034	N	0.013346	T	0.24005	0.0581	L	0.29908	0.895	0.23056	N	0.998365	D;D;D;D	0.61080	0.98;0.989;0.989;0.98	P;P;P;P	0.57548	0.67;0.823;0.823;0.67	T	0.02789	-1.1110	10	0.66056	D	0.02	-20.267	8.0099	0.30347	0.1995:0.0:0.8005:0.0	.	1088;1090;1091;1092	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	1092;1090;1091;1088	ENSP00000264555:R1092L;ENSP00000388589:R1090L;ENSP00000410626:R1091L;ENSP00000431870:R1088L	ENSP00000264555:R1092L	R	+	2	0	PHRF1	598731	0.989000	0.36119	0.045000	0.18777	0.022000	0.10575	2.288000	0.43514	0.871000	0.35750	0.561000	0.74099	CGG		0.632	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		12	19	1	0	1.62e-10	2.04e-10	12	19				
MUC2	4583	broad.mit.edu	37	11	1078313	1078313	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:1078313C>A	ENST00000441003.2	+	5	627	c.600C>A	c.(598-600)aaC>aaA	p.N200K	MUC2_ENST00000359061.5_Missense_Mutation_p.N200K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	200	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGAAGATCAACCAGCCCGATG	0.662																																						uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(598-600)AAC>AAA		mucin 2 precursor	Pranlukast(DB01411)						75.0	90.0	85.0					11																	1078313		2079	4192	6271	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078313C>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.600C>A	11.37:g.1078313C>A	ENSP00000415183:p.Asn200Lys						p.N200K	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	627	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	200			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.600C>A		.	.	.	.	.	.	.	.	.	.	C	4.485	0.090013	0.08632	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12774	2.69;2.65	3.56	0.484	0.16825	.	0.894434	0.09357	U	0.813235	T	0.20577	0.0495	M	0.74647	2.275	0.09310	N	1	P	0.46656	0.882	P	0.46585	0.521	T	0.14392	-1.0474	10	0.54805	T	0.06	.	5.6363	0.17538	0.1314:0.5429:0.0:0.3258	.	200	E7EUV1	.	K	200	ENSP00000415183:N200K;ENSP00000351956:N200K	ENSP00000351956:N200K	N	+	3	2	MUC2	1068313	0.000000	0.05858	0.443000	0.26883	0.002000	0.02628	-0.088000	0.11198	-0.384000	0.07845	-1.134000	0.01955	AAC		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		27	69	1	0	1.79e-09	2.22e-09	27	69				
OR52I2	143502	broad.mit.edu	37	11	4608485	4608485	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4608485T>C	ENST00000312614.4	+	1	465	c.443T>C	c.(442-444)aTg>aCg	p.M148T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	148						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)|pancreas(1)|skin(1)	19		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)		CTGCTGACCATGGCTTTTGAC	0.493																																						uc010qyh.1		NA																	0				pancreas(1)	1						c.(442-444)ATG>ACG		olfactory receptor, family 52, subfamily I,							49.0	48.0	48.0					11																	4608485		2200	4278	6478	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608485T>C	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.443T>C	11.37:g.4608485T>C	ENSP00000308764:p.Met148Thr						p.M148T	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	443	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	148			Helical; Name=3; (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.443T>C	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735048	0.48939	.	.	ENSG00000226288	ENST00000312614	T	0.01145	5.27	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	T	0.11024	0.0269	H	0.96239	3.79	0.51233	D	0.99991	D	0.89917	1.0	D	0.91635	0.999	T	0.01068	-1.1462	10	0.87932	D	0	-20.53	12.307	0.54908	0.0:0.0:0.0:1.0	.	148	Q8NH67	O52I2_HUMAN	T	148	ENSP00000308764:M148T	ENSP00000308764:M148T	M	+	2	0	OR52I2	4565061	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	6.030000	0.70903	1.773000	0.52216	0.524000	0.50904	ATG		0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		16	70	0	0	0	0	16	70				
TRIM68	55128	broad.mit.edu	37	11	4621844	4621844	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:4621844C>G	ENST00000300747.5	-	7	1409	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCTTACATACTCCCAGGCCC	0.537																																						uc001lzf.1		NA																	0				ovary(1)	1						c.(1120-1122)GTA>CTA		ring finger protein 137							54.0	54.0	54.0					11																	4621844		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621844C>G	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1120G>C	11.37:g.4621844C>G	ENSP00000300747:p.Val374Leu					TRIM68_uc001lzg.1_Missense_Mutation_p.V151L|TRIM68_uc010qyj.1_RNA	p.V374L	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1358	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	374			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.1120G>C	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453842	0.63290	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.72835	-0.69	5.52	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.140493	0.32970	N	0.005426	T	0.81870	0.4914	M	0.76170	2.325	0.42879	D	0.994164	D	0.67145	0.996	D	0.69142	0.962	D	0.84016	0.0351	10	0.66056	D	0.02	.	12.2497	0.54591	0.0:0.9171:0.0:0.0829	.	374	Q6AZZ1	TRI68_HUMAN	L	374;95	ENSP00000300747:V374L	ENSP00000300747:V374L	V	-	1	0	TRIM68	4578420	0.484000	0.25964	0.995000	0.50966	0.864000	0.49448	1.098000	0.31000	1.478000	0.48253	0.561000	0.74099	GTA		0.537	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		18	29	0	0	0	0	18	29				
HBG2	3048	broad.mit.edu	37	11	5275578	5275578	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5275578C>T	ENST00000380259.2	-	7	1499	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	HBG2_ENST00000380252.1_Missense_Mutation_p.A77T|HBG2_ENST00000336906.4_Missense_Mutation_p.A87T			P69892	HBG2_HUMAN	hemoglobin, gamma G	87					blood coagulation (GO:0007596)	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)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		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)		CTCAGCTGGGCAAAGGTGCCC	0.517																																						uc001mai.1		NA																	0				skin(1)	1						c.(259-261)GCC>ACC		A-gamma globin							240.0	186.0	205.0					11																	5275578		2201	4298	6499	SO:0001583	missense	3048				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5275578C>T	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.259G>A	11.37:g.5275578C>T	ENSP00000369609:p.Ala87Thr					HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.A87T	p.A87T	NM_000559	NP_000550	P69892	HBG2_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	696	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	87					A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.259G>A	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918357	0.33908	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.93712	-3.27;-3.27;-3.27	4.08	2.13	0.27403	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.95252	0.8460	M	0.79805	2.47	0.09310	N	1	P;P	0.48350	0.884;0.909	P;P	0.58660	0.843;0.709	D	0.88180	0.2870	9	0.87932	D	0	.	7.7539	0.28913	0.3293:0.5108:0.1599:0.0	.	87;87	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	T	77;87;87;87	ENSP00000369602:A77T;ENSP00000369609:A87T;ENSP00000338082:A87T	ENSP00000338082:A87T	A	-	1	0	HBG2	5232154	0.000000	0.05858	0.032000	0.17829	0.069000	0.16628	-0.714000	0.05002	0.435000	0.26365	-0.188000	0.12872	GCC		0.517	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		25	197	0	0	0	0	25	197				
OR51B6	390058	broad.mit.edu	37	11	5373081	5373081	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:5373081C>G	ENST00000380219.1	+	1	344	c.344C>G	c.(343-345)gCc>gGc	p.A115G	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	115					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)		GTCTTGCTTGCCATGGCTTAT	0.473																																						uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(343-345)GCC>GGC		olfactory receptor, family 51, subfamily B,							135.0	126.0	129.0					11																	5373081		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373081C>G		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.344C>G	11.37:g.5373081C>G	ENSP00000369568:p.Ala115Gly					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.A115G	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	344	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.344C>G	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326847	0.41197	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.20200	2.09	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.45796	0.1360	H	0.95004	3.61	0.46044	D	0.998832	B	0.30281	0.275	B	0.38842	0.283	T	0.57539	-0.7794	10	0.72032	D	0.01	.	17.0455	0.86501	0.0:1.0:0.0:0.0	.	115	Q9H340	O51B6_HUMAN	G	114;115	ENSP00000369568:A115G	ENSP00000369568:A115G	A	+	2	0	OR51B6	5329657	0.003000	0.15002	0.993000	0.49108	0.051000	0.14879	0.971000	0.29396	2.603000	0.88011	0.455000	0.32223	GCC		0.473	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		13	63	0	0	0	0	13	63				
DNHD1	144132	broad.mit.edu	37	11	6588904	6588904	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6588904C>T	ENST00000527990.2	+	34	12165	c.12165C>T	c.(12163-12165)gcC>gcT	p.A4055A	DNHD1_ENST00000254579.6_Silent_p.A4055A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4055					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCAGGTGCCCTGGCAGACT	0.617																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(12163-12165)GCC>GCT		dynein heavy chain domain 1 isoform 1							47.0	49.0	49.0					11																	6588904		2039	4179	6218	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588904C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12165C>T	11.37:g.6588904C>T						DNHD1_uc001mea.3_Silent_p.A324A|DNHD1_uc001meb.2_Silent_p.A323A|DNHD1_uc001mec.2_Silent_p.A323A|DNHD1_uc010rao.1_Silent_p.A313A|DNHD1_uc009yfg.2_5'Flank	p.A4055A	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12729	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4055					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.12165C>T	CCDS44532.1																																																																																				0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		16	38	0	0	0	0	16	38				
DNHD1	144132	broad.mit.edu	37	11	6589744	6589744	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6589744C>G	ENST00000527990.2	+	36	12599	c.12599C>G	c.(12598-12600)aCt>aGt	p.T4200S	DNHD1_ENST00000254579.6_Missense_Mutation_p.T4200S			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4200					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGTAAGCACTGTTCACAGA	0.463																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(12598-12600)ACT>AGT		dynein heavy chain domain 1 isoform 1							149.0	138.0	141.0					11																	6589744		1947	4158	6105	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6589744C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12599C>G	11.37:g.6589744C>G	ENSP00000436180:p.Thr4200Ser					DNHD1_uc001mea.3_Missense_Mutation_p.T469S|DNHD1_uc001meb.2_Missense_Mutation_p.T468S|DNHD1_uc001mec.2_Missense_Mutation_p.T468S|DNHD1_uc010rao.1_Missense_Mutation_p.T458S|DNHD1_uc009yfg.2_5'UTR	p.T4200S	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	38	13163	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4200					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12599C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	2.170	-0.390088	0.04932	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08008	3.14;3.14	4.48	0.355	0.16069	Dynein heavy chain (1);	0.880468	0.09942	N	0.735795	T	0.08223	0.0205	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.34181	0.126;0.126;0.126;0.44	B;B;B;B	0.35240	0.096;0.062;0.067;0.198	T	0.39482	-0.9612	10	0.10377	T	0.69	-7.0E-4	6.2414	0.20793	0.0:0.5318:0.0:0.4682	.	3288;468;253;4200	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	S	4200;4200;468;468	ENSP00000254579:T4200S;ENSP00000436180:T4200S	ENSP00000254579:T4200S	T	+	2	0	DNHD1	6546320	0.002000	0.14202	0.005000	0.12908	0.405000	0.30901	0.318000	0.19504	0.195000	0.20347	0.561000	0.74099	ACT		0.463	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		24	48	0	0	0	0	24	48				
OR6A2	8590	broad.mit.edu	37	11	6816345	6816345	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:6816345T>C	ENST00000332601.3	-	1	783	c.595A>G	c.(595-597)Aca>Gca	p.T199A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	199					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)		AGCTCTGCTGTGGACATATCA	0.468																																						uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(595-597)ACA>GCA		olfactory receptor, family 6, subfamily A,							120.0	126.0	124.0					11																	6816345		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816345T>C	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.595A>G	11.37:g.6816345T>C	ENSP00000330384:p.Thr199Ala						p.T199A	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	795	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	199			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.595A>G	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.387942	0.01194	.	.	ENSG00000184933	ENST00000332601	T	0.00091	8.74	5.07	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.715019	0.12596	N	0.455157	T	0.00073	0.0002	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05616	-1.0874	10	0.25106	T	0.35	.	4.6141	0.12417	0.1685:0.09:0.0:0.7416	.	199	O95222	OR6A2_HUMAN	A	199	ENSP00000330384:T199A	ENSP00000330384:T199A	T	-	1	0	OR6A2	6772921	0.000000	0.05858	0.272000	0.24630	0.103000	0.19146	-0.699000	0.05087	1.061000	0.40601	0.533000	0.62120	ACA		0.468	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		37	98	0	0	0	0	37	98				
FAR1	84188	broad.mit.edu	37	11	13743308	13743308	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:13743308G>T	ENST00000354817.3	+	10	1303	c.1159G>T	c.(1159-1161)Gct>Tct	p.A387S	FAR1_ENST00000532502.1_Missense_Mutation_p.A11S	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	387					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TCTTCACAAAGCTATGGTGTT	0.328																																						uc001mld.2		NA																	0				ovary(1)|skin(1)	2						c.(1159-1161)GCT>TCT		fatty acyl CoA reductase 1							84.0	83.0	84.0					11																	13743308		2199	4290	6489	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13743308G>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1159G>T	11.37:g.13743308G>T	ENSP00000346874:p.Ala387Ser						p.A387S	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			10	1314	+			387					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.1159G>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860768	0.51482	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.24151	1.87	5.51	5.51	0.81932	.	0.049209	0.85682	D	0.000000	T	0.22936	0.0554	L	0.35288	1.05	0.52501	D	0.999958	B	0.12013	0.005	B	0.18263	0.021	T	0.05241	-1.0897	10	0.17832	T	0.49	-11.3655	19.3765	0.94512	0.0:0.0:1.0:0.0	.	387	Q8WVX9	FACR1_HUMAN	S	387;11	ENSP00000346874:A387S	ENSP00000346874:A387S	A	+	1	0	FAR1	13699884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.459000	0.66685	2.746000	0.94184	0.655000	0.94253	GCT		0.328	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		24	39	1	0	9.58e-11	1.22e-10	24	39				
INSC	387755	broad.mit.edu	37	11	15197552	15197552	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15197552G>C	ENST00000379554.3	+	3	509	c.463G>C	c.(463-465)Gtg>Ctg	p.V155L	INSC_ENST00000528567.1_Missense_Mutation_p.V108L|INSC_ENST00000424273.1_Missense_Mutation_p.V108L|INSC_ENST00000530161.1_Missense_Mutation_p.V108L|INSC_ENST00000379556.3_Missense_Mutation_p.V108L|INSC_ENST00000525218.1_Missense_Mutation_p.V108L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	155					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						CAGCATGAGCGTGCGTCTGAC	0.627																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(463-465)GTG>CTG		inscuteable isoform a							19.0	21.0	20.0					11																	15197552		2064	4209	6273	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197552G>C	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.463G>C	11.37:g.15197552G>C	ENSP00000368872:p.Val155Leu					INSC_uc001mlz.2_Missense_Mutation_p.V108L|INSC_uc001mma.2_Missense_Mutation_p.V108L|INSC_uc010rcs.1_Missense_Mutation_p.V108L|INSC_uc001mmb.2_Missense_Mutation_p.V108L|INSC_uc001mmc.2_Missense_Mutation_p.V108L	p.V155L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			3	509	+			155					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.463G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570254	0.45798	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.33216	1.45;1.47;1.42;1.45;1.47;1.42	5.2	5.2	0.72013	.	0.077002	0.52532	D	0.000080	T	0.18593	0.0446	N	0.16478	0.41	0.45139	D	0.998159	P;B;B;B	0.34743	0.466;0.049;0.239;0.239	B;B;B;B	0.34093	0.175;0.023;0.089;0.089	T	0.08330	-1.0727	10	0.21540	T	0.41	-27.3882	12.1332	0.53955	0.0784:0.0:0.9216:0.0	.	108;108;108;155	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	L	155;108;108;108;108;108;108	ENSP00000368872:V155L;ENSP00000368874:V108L;ENSP00000389161:V108L;ENSP00000435022:V108L;ENSP00000436194:V108L;ENSP00000436113:V108L	ENSP00000368872:V155L	V	+	1	0	INSC	15154128	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	6.401000	0.73256	2.420000	0.82092	0.462000	0.41574	GTG		0.627	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		8	10	0	0	0	0	8	10				
INSC	387755	broad.mit.edu	37	11	15260566	15260566	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:15260566C>A	ENST00000379554.3	+	11	1526	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	INSC_ENST00000528567.1_Missense_Mutation_p.L447M|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000525218.1_Missense_Mutation_p.L405M	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	494					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						TGCAGTGACCCTGGCTCGTCT	0.602																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1480-1482)CTG>ATG		inscuteable isoform a							54.0	55.0	55.0					11																	15260566		2076	4194	6270	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260566C>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.1480C>A	11.37:g.15260566C>A	ENSP00000368872:p.Leu494Met					INSC_uc001mlz.2_Missense_Mutation_p.L447M|INSC_uc001mma.2_Missense_Mutation_p.L447M|INSC_uc010rcs.1_Missense_Mutation_p.L482M|INSC_uc001mmb.2_Missense_Mutation_p.L447M|INSC_uc001mmc.2_Missense_Mutation_p.L405M	p.L494M	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			11	1526	+			494					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1480C>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883738	0.72410	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.66	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.77824	0.4188	M	0.61703	1.905	0.53688	D	0.999978	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.78283	-0.2264	10	0.72032	D	0.01	-11.9197	11.5888	0.50933	0.0:0.8577:0.0:0.1423	.	482;405;447;494	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	M	494;447;405;447;447;405	ENSP00000368872:L494M;ENSP00000368874:L447M;ENSP00000389161:L405M;ENSP00000435022:L447M;ENSP00000436194:L447M;ENSP00000436113:L405M	ENSP00000368872:L494M	L	+	1	2	INSC	15217142	0.889000	0.30405	1.000000	0.80357	0.996000	0.88848	1.781000	0.38644	0.757000	0.33036	0.655000	0.94253	CTG		0.602	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		16	26	1	0	1.15e-07	1.37e-07	16	26				
PLEKHA7	144100	broad.mit.edu	37	11	16834669	16834669	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:16834669C>A	ENST00000355661.3	-	13	2008	c.1998G>T	c.(1996-1998)ctG>ctT	p.L666L	PLEKHA7_ENST00000531066.1_Silent_p.L666L|PLEKHA7_ENST00000448080.2_Silent_p.L666L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	666	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTTTAGATCCAGGTACTCCA	0.468																																						uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1996-1998)CTG>CTT		pleckstrin homology domain containing, family A							149.0	108.0	122.0					11																	16834669		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16834669C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1998G>T	11.37:g.16834669C>A						PLEKHA7_uc010rcu.1_Silent_p.L666L|PLEKHA7_uc010rcv.1_Silent_p.L240L|PLEKHA7_uc001mmn.2_Silent_p.L374L	p.L666L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			13	2013	-			666			Interaction with CTNND1.		B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.1998G>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.951	0.968284	0.18659	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.91	2.95	0.34219	.	.	.	.	.	T	0.61540	0.2355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58126	-0.7691	4	.	.	.	-16.0632	11.2458	0.48996	0.0:0.739:0.0:0.261	.	.	.	.	L	297	.	.	W	-	2	0	PLEKHA7	16791245	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.605000	0.24179	0.796000	0.33947	-0.126000	0.14955	TGG		0.468	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		15	34	1	0	7.93e-07	9.27e-07	15	34				
SERGEF	26297	broad.mit.edu	37	11	18010157	18010157	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18010157C>G	ENST00000265965.5	-	8	982	c.831G>C	c.(829-831)ctG>ctC	p.L277L	SERGEF_ENST00000528200.1_Silent_p.L277L|SERGEF_ENST00000532265.1_Silent_p.L163L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	277					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCTGAGCAACCAGGTGTGTCC	0.507																																						uc001mnm.2		NA																	0				central_nervous_system(1)	1						c.(829-831)CTG>CTC		deafness locus associated putative guanine							132.0	116.0	121.0					11																	18010157		2200	4293	6493	SO:0001819	synonymous_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18010157C>G	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.831G>C	11.37:g.18010157C>G						SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.L277L|SERGEF_uc010rcz.1_Silent_p.L163L|SERGEF_uc001mno.1_Silent_p.L163L	p.L277L	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN			8	911	-			277			RCC1 5.		Q9UGK9	Silent	SNP	ENST00000265965.5	37	c.831G>C	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.473|8.473	0.857971|0.857971	0.17178|0.17178	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000533241|ENST00000529151	.|.	.|.	.|.	5.52|5.52	-0.156|-0.156	0.13391|0.13391	.|.	.|.	.|.	.|.	.|.	T|T	0.54854|0.54854	0.1884|0.1884	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49735|0.49735	-0.8908|-0.8908	4|4	.|.	.|.	.|.	-8.9298|-8.9298	8.6259|8.6259	0.33888|0.33888	0.0:0.5404:0.3207:0.1388|0.0:0.5404:0.3207:0.1388	.|.	.|.	.|.	.|.	R|S	50|141	.|.	.|.	G|W	-|-	1|2	0|0	SERGEF|SERGEF	17966733|17966733	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	0.157000|0.157000	0.16402|0.16402	0.295000|0.295000	0.22570|0.22570	-0.282000|-0.282000	0.10007|0.10007	GGT|TGG		0.507	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		26	43	0	0	0	0	26	43				
LDHC	3948	broad.mit.edu	37	11	18472631	18472631	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:18472631G>T	ENST00000541669.1	+	8	1067	c.956G>T	c.(955-957)aGt>aTt	p.S319I	LDHC_ENST00000280704.4_Missense_Mutation_p.S319I|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.S305I|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000535809.1_3'UTR			P07864	LDHC_HUMAN	lactate dehydrogenase C	319					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCAAGAAGAGTGCAGAAACA	0.388																																						uc001mon.3		NA																	0					0						c.(955-957)AGT>ATT		L-lactate dehydrogenase C	NADH(DB00157)						90.0	93.0	92.0					11																	18472631		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18472631G>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.956G>T	11.37:g.18472631G>T	ENSP00000437783:p.Ser319Ile					LDHC_uc001mom.3_Missense_Mutation_p.S319I|LDHC_uc009yhp.2_3'UTR|LDHC_uc001moo.3_Missense_Mutation_p.S203I|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_3'UTR	p.S319I	NM_017448	NP_059144	P07864	LDHC_HUMAN			8	1068	+			319					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.956G>T	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349859	0.82132	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880	T;T;T	0.70164	-0.46;-0.46;-0.46	4.83	4.83	0.62350	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92146	0.5724	10	0.87932	D	0	-22.6327	15.2942	0.73891	0.0:0.0:1.0:0.0	.	319	P07864	LDHC_HUMAN	I	319;319;305	ENSP00000437783:S319I;ENSP00000280704:S319I;ENSP00000439555:S305I	ENSP00000280704:S319I	S	+	2	0	LDHC	18429207	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.232000	0.89796	2.673000	0.90976	0.561000	0.74099	AGT		0.388	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		29	55	1	0	1.25e-16	1.7e-16	29	55				
ANO5	203859	broad.mit.edu	37	11	22271793	22271793	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:22271793G>A	ENST00000324559.8	+	10	1206	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	297					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATTATTATGGAGAAAAAAT	0.308																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(889-891)GGA>AGA		anoctamin 5 isoform a							86.0	79.0	81.0					11																	22271793		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22271793G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.889G>A	11.37:g.22271793G>A	ENSP00000315371:p.Gly297Arg					ANO5_uc001mqj.2_Missense_Mutation_p.G296R	p.G297R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			10	1206	+			297			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.889G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211081	0.79240	.	.	ENSG00000171714	ENST00000324559	D	0.96619	-4.07	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99593	1.0976	10	0.87932	D	0	.	15.7759	0.78214	0.0:0.1459:0.8541:0.0	.	297	Q75V66	ANO5_HUMAN	R	297	ENSP00000315371:G297R	ENSP00000315371:G297R	G	+	1	0	ANO5	22228369	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.402000	0.97298	2.528000	0.85240	0.557000	0.71058	GGA		0.308	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		10	20	0	0	0	0	10	20				
MAPK8IP1	9479	broad.mit.edu	37	11	45924289	45924289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:45924289G>A	ENST00000241014.2	+	5	1141	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R314Q	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	324	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACGGCAGGGCGGCCGCACCCC	0.711																																						uc001nbr.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(970-972)CGG>CAG		mitogen-activated protein kinase 8 interacting							11.0	13.0	12.0					11																	45924289		2188	4276	6464	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924289G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.971G>A	11.37:g.45924289G>A	ENSP00000241014:p.Arg324Gln						p.R324Q	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1141	+			324					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.971G>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739120	0.30774	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.22945	1.93;1.93	4.88	3.97	0.46021	.	0.207607	0.39615	N	0.001310	T	0.11367	0.0277	N	0.24115	0.695	0.32044	N	0.59783	P	0.44006	0.824	B	0.25405	0.06	T	0.15407	-1.0438	10	0.34782	T	0.22	-14.9773	8.2528	0.31737	0.2276:0.0:0.7724:0.0	.	324	Q9UQF2	JIP1_HUMAN	Q	324;314	ENSP00000241014:R324Q;ENSP00000378991:R314Q	ENSP00000241014:R324Q	R	+	2	0	MAPK8IP1	45880865	0.998000	0.40836	0.995000	0.50966	0.457000	0.32468	2.625000	0.46452	1.289000	0.44618	-0.254000	0.11334	CGG		0.711	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		7	10	0	0	0	0	7	10				
OR4B1	119765	broad.mit.edu	37	11	48239279	48239279	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:48239279A>T	ENST00000309562.2	+	1	936	c.918A>T	c.(916-918)ccA>ccT	p.P306P		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	306						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						AGGAGAATCCAGGGAGGGAGT	0.408																																						uc010rhs.1		NA																	0		p.P306T(1)		skin(2)|ovary(1)|pancreas(1)	4						c.(916-918)CCA>CCT		olfactory receptor, family 4, subfamily B,							46.0	47.0	47.0					11																	48239279		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48239279A>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.918A>T	11.37:g.48239279A>T							p.P306P	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	918	+			306			Cytoplasmic (Potential).		Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.918A>T	CCDS31485.1																																																																																				0.408	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		11	31	0	0	0	0	11	31				
OR5F1	338674	broad.mit.edu	37	11	55761731	55761731	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:55761731G>A	ENST00000278409.1	-	1	370	c.371C>T	c.(370-372)gCg>gTg	p.A124V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124E(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATATGGCCGCATACCTGTC	0.507																																						uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(370-372)GCG>GTG		olfactory receptor, family 5, subfamily F,							65.0	65.0	65.0					11																	55761731		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761731G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.371C>T	11.37:g.55761731G>A	ENSP00000278409:p.Ala124Val						p.A124V	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	371	-	Esophageal squamous(21;0.00448)		124			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.371C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.621992	0.00820	.	.	ENSG00000149133	ENST00000278409	T	0.01629	4.72	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	N	0.01015	-1.05	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	9	0.02654	T	1	.	7.2206	0.25985	0.8833:0.0:0.1167:0.0	.	124	O95221	OR5F1_HUMAN	V	124	ENSP00000278409:A124V	ENSP00000278409:A124V	A	-	2	0	OR5F1	55518307	0.052000	0.20516	0.764000	0.31436	0.017000	0.09413	3.016000	0.49607	0.221000	0.20879	-0.891000	0.02926	GCG		0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		3	32	0	0	0	0	3	32				
OR5M3	219482	broad.mit.edu	37	11	56237369	56237369	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56237369C>A	ENST00000312240.2	-	1	645	c.605G>T	c.(604-606)gGc>gTc	p.G202V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202						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(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGTTAATGCCGGCAAGTAT	0.418																																						uc010rjk.1		NA																	0				ovary(2)	2						c.(604-606)GGC>GTC		olfactory receptor, family 5, subfamily M,							129.0	125.0	126.0					11																	56237369		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237369C>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.605G>T	11.37:g.56237369C>A	ENSP00000312208:p.Gly202Val						p.G202V	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	605	-	Esophageal squamous(21;0.00448)		202			Helical; Name=5; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.605G>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	9.193	1.026600	0.19512	.	.	ENSG00000174937	ENST00000312240	T	0.33865	1.39	5.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.148567	0.31427	N	0.007677	T	0.50786	0.1636	L	0.42245	1.32	0.23386	N	0.997783	D	0.89917	1.0	D	0.77004	0.989	T	0.44711	-0.9310	10	0.87932	D	0	-8.6213	13.2634	0.60120	0.0:0.8392:0.1608:0.0	.	202	Q8NGP4	OR5M3_HUMAN	V	202	ENSP00000312208:G202V	ENSP00000312208:G202V	G	-	2	0	OR5M3	55993945	0.000000	0.05858	0.036000	0.18154	0.025000	0.11179	0.598000	0.24074	1.097000	0.41459	0.549000	0.68633	GGC		0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		35	80	1	0	1.91e-15	2.58e-15	35	80				
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56258161G>T	ENST00000327216.2	-	1	710	c.686C>A	c.(685-687)tCt>tAt	p.S229Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229						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)					GCCCTCTGTAGAGCGAATCTT	0.413																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(685-687)TCT>TAT		olfactory receptor, family 5, subfamily M,							40.0	43.0	42.0					11																	56258161		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258161G>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.686C>A	11.37:g.56258161G>T	ENSP00000323354:p.Ser229Tyr						p.S229Y	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	686	-	Esophageal squamous(21;0.00352)		229			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.686C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000181371	ENST00000327216	T	0.00337	8.05	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001316	T	0.01320	0.0043	H	0.95328	3.655	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12066	-1.0562	10	0.87932	D	0	-17.9167	14.9018	0.70684	0.0:0.0:1.0:0.0	.	229	Q8NGP6	OR5M8_HUMAN	Y	229	ENSP00000323354:S229Y	ENSP00000323354:S229Y	S	-	2	0	OR5M8	56014737	0.070000	0.21116	0.019000	0.16419	0.024000	0.10985	2.072000	0.41510	2.153000	0.67306	0.632000	0.83419	TCT		0.413	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	34	1	0	4.15e-12	5.4e-12	17	34				
OR5AR1	219493	broad.mit.edu	37	11	56431878	56431878	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:56431878C>A	ENST00000302969.2	+	1	741	c.717C>A	c.(715-717)tcC>tcA	p.S239S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	239						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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGGCTTTCTCCACCTGCGGGT	0.483																																						uc010rjm.1		NA																	0					0						c.(715-717)TCC>TCA		olfactory receptor, family 5, subfamily AR,							153.0	131.0	138.0					11																	56431878		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431878C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.717C>A	11.37:g.56431878C>A							p.S239S	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	717	+			239			Cytoplasmic (Potential).		Q6IF61	Silent	SNP	ENST00000302969.2	37	c.717C>A	CCDS31535.1																																																																																				0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		24	90	1	0	2.22e-12	2.89e-12	24	90				
OR9I1	219954	broad.mit.edu	37	11	57886521	57886521	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:57886521A>G	ENST00000302610.1	-	1	395	c.396T>C	c.(394-396)taT>taC	p.Y132Y	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	132						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)				TGGCCACGGTATAGAGCAGTG	0.557																																						uc001nml.1		NA																	0				pancreas(1)	1						c.(394-396)TAT>TAC		olfactory receptor, family 9, subfamily I,							47.0	45.0	46.0					11																	57886521		2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886521A>G	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.396T>C	11.37:g.57886521A>G						OR9Q1_uc001nmj.2_Intron	p.Y132Y	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	396	-		Breast(21;0.0589)	132			Cytoplasmic (Potential).		Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.396T>C	CCDS31542.1																																																																																				0.557	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		12	38	0	0	0	0	12	38				
MS4A4A	51338	broad.mit.edu	37	11	60073587	60073587	+	Missense_Mutation	SNP	G	G	T	rs148827848		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:60073587G>T	ENST00000337908.4	+	6	651	c.561G>T	c.(559-561)atG>atT	p.M187I	MS4A4A_ENST00000355131.3_Missense_Mutation_p.M168I|MS4A4A_ENST00000395016.3_Missense_Mutation_p.M168I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.M134I	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	187						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGGATGGCATGGTGCTCCTCC	0.463																																						uc001noz.2		NA																	0					0						c.(559-561)ATG>ATT		membrane-spanning 4-domains, subfamily A, member							272.0	231.0	245.0					11																	60073587		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60073587G>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.561G>T	11.37:g.60073587G>T	ENSP00000338648:p.Met187Ile					MS4A4A_uc001npa.2_Missense_Mutation_p.M168I|MS4A4A_uc001npb.2_Missense_Mutation_p.M168I|MS4A4A_uc001npc.2_Missense_Mutation_p.M115I	p.M187I	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			6	571	+			187			Helical; (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.561G>T	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382031	0.01204	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.18338	2.22;4.38;4.38;4.38	3.36	-6.72	0.01755	.	0.588964	0.14082	N	0.342610	T	0.07863	0.0197	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12837	0.002;0.008	T	0.36383	-0.9750	10	0.18710	T	0.47	0.8129	0.4386	0.00483	0.3204:0.1375:0.1623:0.3797	.	134;187	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	I	134;187;168;168	ENSP00000434506:M134I;ENSP00000338648:M187I;ENSP00000347252:M168I;ENSP00000378462:M168I	ENSP00000338648:M187I	M	+	3	0	MS4A4A	59830163	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.496000	0.00970	-1.418000	0.02014	-0.396000	0.06452	ATG		0.463	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			32	78	1	0	1.22e-17	1.68e-17	32	78				
FAM86C1	55199	broad.mit.edu	37	11	71507140	71507140	+	Missense_Mutation	SNP	C	C	A	rs564433101		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:71507140C>A	ENST00000359244.4	+	4	362	c.339C>A	c.(337-339)agC>agA	p.S113R	FAM86C1_ENST00000346333.6_Missense_Mutation_p.S79R|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S106R	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	113										lung(1)	1						GGAGCACCAGCGGGCTCCTCA	0.632																																						uc001oqv.3		NA																	0					0						c.(337-339)AGC>AGA		hypothetical protein LOC55199 isoform 1							72.0	78.0	76.0					11																	71507140		2200	4293	6493	SO:0001583	missense	55199							g.chr11:71507140C>A	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.339C>A	11.37:g.71507140C>A	ENSP00000352182:p.Ser113Arg					FAM86C_uc009ysr.2_Missense_Mutation_p.S106R|FAM86C_uc001oqw.3_Missense_Mutation_p.S79R|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA|uc001oqx.1_Intron	p.S113R	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN			4	365	+			113					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.339C>A	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	9.600	1.128529	0.21041	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.25414	1.85;2.19;1.84;1.8	0.906	0.906	0.19314	.	.	.	.	.	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	P;D;D	0.59357	0.849;0.985;0.985	B;P;P	0.44623	0.231;0.455;0.455	T	0.12967	-1.0527	9	0.59425	D	0.04	.	5.193	0.15220	0.0:1.0:0.0:0.0	.	106;79;113	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	R	79;113;106;79	ENSP00000325662:S79R;ENSP00000352182:S113R;ENSP00000391329:S106R;ENSP00000436598:S79R	ENSP00000325662:S79R	S	+	3	2	FAM86C1	71184788	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	0.678000	0.25277	0.793000	0.33875	0.184000	0.17185	AGC		0.632	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		46	119	1	0	7.88e-25	1.12e-24	46	119				
GDPD4	220032	broad.mit.edu	37	11	76940195	76940195	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:76940195C>A	ENST00000376217.2	-	14	1722	c.1472G>T	c.(1471-1473)tGg>tTg	p.W491L	GDPD4_ENST00000315938.4_Splice_Site_p.W491L			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	491					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						atataCTTACCAGTGAAAACA	0.303																																						uc001oyf.2		NA																	0				skin(1)	1						c.(1471-1473)TGG>TTG		glycerophosphodiester phosphodiesterase domain							27.0	26.0	26.0					11																	76940195		2199	4292	6491	SO:0001630	splice_region_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76940195C>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1472+1G>T	11.37:g.76940195C>A							p.W491L	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			14	1723	-			491			Cytoplasmic (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.1472G>T		.	.	.	.	.	.	.	.	.	.	C	18.06	3.540118	0.65085	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16324	2.35;2.47	5.16	4.23	0.50019	.	0.407546	0.28784	N	0.014156	T	0.24084	0.0583	M	0.69823	2.125	0.38391	D	0.945407	P	0.46327	0.876	B	0.43754	0.43	T	0.11348	-1.0591	9	.	.	.	-0.8743	13.1991	0.59756	0.1597:0.8403:0.0:0.0	.	491	Q6W3E5-2	.	L	491	ENSP00000365390:W491L;ENSP00000320815:W491L	.	W	-	2	0	GDPD4	76617843	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	3.008000	0.49544	1.258000	0.44101	0.650000	0.86243	TGG		0.303	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	Missense_Mutation	8	21	1	0	5.18e-06	5.92e-06	8	21				
FZD4	8322	broad.mit.edu	37	11	86662821	86662821	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:86662821G>A	ENST00000531380.1	-	2	1282	c.977C>T	c.(976-978)aCt>aTt	p.T326I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	326					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAAAACCAAGTGAGTGTCAG	0.453																																						uc001pce.2		NA																	0				large_intestine(1)	1						c.(976-978)ACT>ATT		frizzled 4 precursor							53.0	53.0	53.0					11																	86662821		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662821G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.977C>T	11.37:g.86662821G>A	ENSP00000434034:p.Thr326Ile					PRSS23_uc001pcc.1_RNA	p.T326I	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	1283	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Cytoplasmic (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.977C>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812789	0.70912	.	.	ENSG00000174804	ENST00000531380	D	0.84730	-1.89	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.95807	0.8838	9	.	.	.	.	19.5944	0.95530	0.0:0.0:1.0:0.0	.	326	Q9ULV1	FZD4_HUMAN	I	326	ENSP00000434034:T326I	.	T	-	2	0	FZD4	86340469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.642000	0.89623	0.561000	0.74099	ACT		0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		13	23	0	0	0	0	13	23				
GRM5	2915	broad.mit.edu	37	11	88258477	88258477	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:88258477C>A	ENST00000305447.4	-	8	2875	c.2726G>T	c.(2725-2727)aGt>aTt	p.S909I	GRM5_ENST00000455756.2_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Splice_Site_p.S909I|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	909					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)			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)	GTTTGCTTACCTGCTCATTGT	0.507																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2725-2727)AGT>ATT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						349.0	308.0	321.0					11																	88258477		1566	3581	5147	SO:0001630	splice_region_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258477C>A	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.2726+1G>T	11.37:g.88258477C>A						GRM5_uc009yvm.2_Intron	p.S909I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			8	2926	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	909			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2726G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081695	0.55753	.	.	ENSG00000168959	ENST00000418177;ENST00000305447	T;T	0.35605	1.3;1.3	5.93	5.93	0.95920	.	0.122927	0.85682	D	0.000000	T	0.51805	0.1696	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.31752	-0.9932	9	.	.	.	.	18.5203	0.90950	0.0:1.0:0.0:0.0	.	909	P41594	GRM5_HUMAN	I	909	ENSP00000402912:S909I;ENSP00000306138:S909I	.	S	-	2	0	GRM5	87898125	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.770000	0.62309	2.811000	0.96726	0.557000	0.71058	AGT		0.507	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	Missense_Mutation	73	191	1	0	2.38e-18	3.28e-18	73	191				
FAT3	120114	broad.mit.edu	37	11	92087428	92087428	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92087428C>T	ENST00000298047.6	+	1	2167	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	FAT3_ENST00000525166.1_Missense_Mutation_p.S567L|FAT3_ENST00000409404.2_Missense_Mutation_p.S717L|FAT3_ENST00000541502.1_Missense_Mutation_p.S717L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	717					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)				GACTTTTATTCAATTAATAGA	0.398										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(2149-2151)TCA>TTA		FAT tumor suppressor homolog 3							157.0	160.0	159.0					11																	92087428		1838	4107	5945	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087428C>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.2150C>T	11.37:g.92087428C>T	ENSP00000298047:p.Ser717Leu	TCGA Ovarian(4;0.039)					p.S717L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2167	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	717			Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2150C>T		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308875	0.40895	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.47	5.47	0.80525	.	.	.	.	.	T	0.71728	0.3374	L	0.51422	1.61	0.33671	D	0.610876	D	0.89917	1.0	D	0.85130	0.997	T	0.74691	-0.3580	9	0.28530	T	0.3	.	11.7499	0.51843	0.0:0.9196:0.0:0.0804	.	717	Q8TDW7-3	.	L	717;717;717;567	ENSP00000298047:S717L;ENSP00000387040:S717L;ENSP00000443786:S717L;ENSP00000432586:S567L	ENSP00000298047:S717L	S	+	2	0	FAT3	91727076	1.000000	0.71417	0.952000	0.39060	0.982000	0.71751	4.841000	0.62824	2.567000	0.86603	0.467000	0.42956	TCA		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		49	145	0	0	0	0	49	145				
FAT3	120114	broad.mit.edu	37	11	92564960	92564960	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:92564960T>A	ENST00000298047.6	+	13	9671	c.9654T>A	c.(9652-9654)tcT>tcA	p.S3218S	FAT3_ENST00000525166.1_Silent_p.S3068S|FAT3_ENST00000409404.2_Silent_p.S3218S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3218	Cadherin 29. {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)				CCCTGTCCTCTCTCACTACTG	0.577										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(9652-9654)TCT>TCA		FAT tumor suppressor homolog 3							84.0	89.0	88.0					11																	92564960		2125	4253	6378	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92564960T>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9654T>A	11.37:g.92564960T>A		TCGA Ovarian(4;0.039)					p.S3218S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			13	9671	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3218			Cadherin 29.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9654T>A																																																																																					0.577	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	11	0	0	0	0	11	11				
CNTN5	53942	broad.mit.edu	37	11	99715885	99715885	+	Silent	SNP	C	C	A	rs377666601		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99715885C>A	ENST00000524871.1	+	6	758	c.468C>A	c.(466-468)acC>acA	p.T156T	CNTN5_ENST00000528682.1_Silent_p.T156T|CNTN5_ENST00000527185.1_Silent_p.T156T|CNTN5_ENST00000279463.3_Silent_p.T156T|CNTN5_ENST00000418526.2_Silent_p.T82T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	156	Ig-like C2-type 1.				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)		TAGATGGCACCTTCATTATAA	0.373																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(466-468)ACC>ACA		contactin 5 isoform long							126.0	119.0	122.0					11																	99715885		1855	4107	5962	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715885C>A	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.468C>A	11.37:g.99715885C>A						CNTN5_uc009ywv.1_Silent_p.T156T|CNTN5_uc001pfz.2_Silent_p.T156T|CNTN5_uc001pgb.2_Silent_p.T82T	p.T156T	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)	6	807	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	156			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.468C>A	CCDS53696.1																																																																																				0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		35	69	1	0	8.53e-09	1.04e-08	35	69				
CNTN5	53942	broad.mit.edu	37	11	99941252	99941252	+	Missense_Mutation	SNP	C	C	G	rs201969397		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99941252C>G	ENST00000524871.1	+	11	1549	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	CNTN5_ENST00000528682.1_Missense_Mutation_p.T420R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T420R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T420R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T346R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				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)		CCCAGACCCACGTATCGTTGG	0.478																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1258-1260)ACG>AGG		contactin 5 isoform long							100.0	98.0	99.0					11																	99941252		1896	4112	6008	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99941252C>G	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.1259C>G	11.37:g.99941252C>G	ENSP00000435637:p.Thr420Arg					CNTN5_uc009ywv.1_Missense_Mutation_p.T420R|CNTN5_uc001pfz.2_Missense_Mutation_p.T420R|CNTN5_uc001pgb.2_Missense_Mutation_p.T346R	p.T420R	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)	11	1598	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	420			Ig-like C2-type 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1259C>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049322	0.55218	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044515	0.85682	D	0.000000	T	0.75481	0.3855	L	0.48174	1.505	0.54753	D	0.999982	D;D;D	0.71674	0.996;0.997;0.998	D;P;D	0.70935	0.968;0.876;0.971	T	0.76586	-0.2905	10	0.87932	D	0	.	12.6909	0.56974	0.0:0.9253:0.0:0.0746	.	420;346;420	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	R	420;420;420;346;420	ENSP00000433575:T420R;ENSP00000436185:T420R;ENSP00000435637:T420R;ENSP00000393229:T346R;ENSP00000279463:T420R	ENSP00000279463:T420R	T	+	2	0	CNTN5	99446462	0.999000	0.42202	0.964000	0.40570	0.314000	0.28054	4.076000	0.57591	2.834000	0.97654	0.650000	0.86243	ACG		0.478	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		16	30	0	0	0	0	16	30				
CNTN5	53942	broad.mit.edu	37	11	99944884	99944884	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:99944884C>A	ENST00000524871.1	+	13	1728	c.1438C>A	c.(1438-1440)Ccc>Acc	p.P480T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P480T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P480T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				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)		AGCTTCAGCTCCCACTTTTGC	0.368																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1438-1440)CCC>ACC		contactin 5 isoform long							47.0	47.0	47.0					11																	99944884		1837	4088	5925	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99944884C>A	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.1438C>A	11.37:g.99944884C>A	ENSP00000435637:p.Pro480Thr					CNTN5_uc009ywv.1_Missense_Mutation_p.P480T|CNTN5_uc001pfz.2_Missense_Mutation_p.P480T|CNTN5_uc001pgb.2_Missense_Mutation_p.P406T	p.P480T	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)	13	1777	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	480			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1438C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460959	0.84317	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.97491	4.015	0.80722	D	1	P;P;P	0.51449	0.83;0.944;0.945	B;P;P	0.51016	0.421;0.625;0.656	D	0.92544	0.6044	10	0.87932	D	0	.	18.4704	0.90773	0.0:1.0:0.0:0.0	.	480;406;480	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	T	480;480;480;406;480	ENSP00000433575:P480T;ENSP00000436185:P480T;ENSP00000435637:P480T;ENSP00000393229:P406T;ENSP00000279463:P480T	ENSP00000279463:P480T	P	+	1	0	CNTN5	99450094	1.000000	0.71417	0.976000	0.42696	0.937000	0.57800	7.241000	0.78201	2.592000	0.87571	0.558000	0.71614	CCC		0.368	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	30	1	0	5.51e-06	6.26e-06	10	30				
MMP10	4319	broad.mit.edu	37	11	102649421	102649421	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:102649421G>A	ENST00000279441.4	-	4	592	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	186					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CCAGGTCCAGGTGGGTAGGCA	0.423																																						uc001phg.1		NA																	0				kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(556-558)CCT>TCT		matrix metalloproteinase 10 preproprotein							101.0	94.0	96.0					11																	102649421		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102649421G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.556C>T	11.37:g.102649421G>A	ENSP00000279441:p.Pro186Ser						p.P186S	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	4	578	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	186					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.556C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	14.72	2.620374	0.46736	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.56611	1.55;0.45	4.38	3.46	0.39613	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.79118	0.4392	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.86202	0.1619	10	0.87932	D	0	.	14.7087	0.69211	0.0:0.1458:0.8542:0.0	.	186	P09238	MMP10_HUMAN	S	186;175	ENSP00000279441:P186S;ENSP00000441485:P175S	ENSP00000279441:P186S	P	-	1	0	MMP10	102154631	1.000000	0.71417	0.986000	0.45419	0.029000	0.11900	7.317000	0.79018	1.171000	0.42768	0.591000	0.81541	CCT		0.423	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			23	42	0	0	0	0	23	42				
CARD16	114769	broad.mit.edu	37	11	104912149	104912149	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:104912149G>C	ENST00000375706.2	-	3	589	c.572C>G	c.(571-573)aCt>aGt	p.T191S	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	191					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						ATGAGTTCCAGTTTGCAACTC	0.393																																						uc001pip.1		NA																	0				skin(1)	1						c.(571-573)ACT>AGT		caspase-1 dominant-negative inhibitor pseudo-ICE							69.0	73.0	72.0					11																	104912149		2202	4299	6501	SO:0001583	missense	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104912149G>C		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.572C>G	11.37:g.104912149G>C	ENSP00000364858:p.Thr191Ser					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	p.T191S	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			3	599	-			191					Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.572C>G	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	4.428	0.079248	0.08533	.	.	ENSG00000204397	ENST00000375706	T	0.18174	2.23	0.502	-0.668	0.11392	.	1.477680	0.04166	N	0.323989	T	0.11793	0.0287	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	9	0.87932	D	0	.	.	.	.	.	191	Q5EG05	CAR16_HUMAN	S	191	ENSP00000364858:T191S	ENSP00000364858:T191S	T	-	2	0	CARD16	104417359	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.059000	0.11731	-0.291000	0.09012	-0.656000	0.03901	ACT		0.393	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			21	35	0	0	0	0	21	35				
GUCY1A2	2977	broad.mit.edu	37	11	106888648	106888648	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:106888648G>C	ENST00000526355.2	-	1	602	c.134C>G	c.(133-135)cCg>cGg	p.P45R	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P45R|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P45R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	45					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGGCTCCAGCGGCCCGGGCGG	0.781																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(133-135)CCG>CGG		guanylate cyclase 1, soluble, alpha 2							3.0	4.0	4.0					11																	106888648		1770	3682	5452	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106888648G>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.134C>G	11.37:g.106888648G>C	ENSP00000431245:p.Pro45Arg					GUCY1A2_uc010rvo.1_Missense_Mutation_p.P45R|GUCY1A2_uc009yxn.1_Missense_Mutation_p.P45R	p.P45R	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	1	524	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	45					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.134C>G	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	2.923	-0.222690	0.06061	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86230	-1.77;-2.09;-1.78	3.34	2.41	0.29592	.	.	.	.	.	T	0.81049	0.4742	L	0.48642	1.525	0.20764	N	0.999858	B;B;B	0.26195	0.089;0.144;0.026	B;B;B	0.22386	0.017;0.039;0.017	T	0.67841	-0.5566	9	0.36615	T	0.2	.	7.9644	0.30089	0.1202:0.0:0.8798:0.0	.	45;45;45	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	R	45	ENSP00000431245:P45R;ENSP00000282249:P45R;ENSP00000344874:P45R	ENSP00000282249:P45R	P	-	2	0	GUCY1A2	106393858	0.996000	0.38824	0.001000	0.08648	0.004000	0.04260	1.060000	0.30530	0.587000	0.29643	0.407000	0.27541	CCG		0.781	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			2	5	0	0	0	0	2	5				
DRD2	1813	broad.mit.edu	37	11	113295162	113295162	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:113295162T>A	ENST00000362072.3	-	2	556	c.212A>T	c.(211-213)tAc>tTc	p.Y71F	DRD2_ENST00000544518.1_Missense_Mutation_p.Y71F|DRD2_ENST00000346454.3_Missense_Mutation_p.Y71F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.Y71F|DRD2_ENST00000355319.2_Missense_Mutation_p.Y71F|DRD2_ENST00000538967.1_Missense_Mutation_p.Y71F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	71					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACGATCAGGTAGTTGGTGGT	0.637																																						uc001pnz.2		NA																	0				pancreas(1)|skin(1)	2						c.(211-213)TAC>TTC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						171.0	131.0	145.0					11																	113295162		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295162T>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.212A>T	11.37:g.113295162T>A	ENSP00000354859:p.Tyr71Phe					DRD2_uc010rwv.1_Missense_Mutation_p.Y71F|DRD2_uc001poa.3_Missense_Mutation_p.Y71F|DRD2_uc001pob.3_Missense_Mutation_p.Y71F|DRD2_uc009yyr.1_Missense_Mutation_p.Y71F	p.Y71F	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	1	533	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	71			Helical; Name=2; (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.212A>T	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824232	0.90955	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;2.57	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.69358	2.11	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	D	0.86296	0.1677	10	0.66056	D	0.02	.	15.2357	0.73430	0.0:0.0:0.0:1.0	.	71;71;71;71	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	F	71	ENSP00000347474:Y71F;ENSP00000278597:Y71F;ENSP00000354859:Y71F;ENSP00000441068:Y71F;ENSP00000442172:Y71F;ENSP00000438215:Y71F;ENSP00000438419:Y71F	ENSP00000278597:Y71F	Y	-	2	0	DRD2	112800372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.232000	0.72313	1.998000	0.58463	0.459000	0.35465	TAC		0.637	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		16	38	0	0	0	0	16	38				
RNF214	257160	broad.mit.edu	37	11	117153235	117153235	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117153235G>A	ENST00000531452.1	+	12	1874	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	RNF214_ENST00000531287.1_Missense_Mutation_p.V455M|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000300650.4_Missense_Mutation_p.V610M|RNF214_ENST00000530849.1_Missense_Mutation_p.V455M	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	610							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)		ACATGAGCGGGTGGCAGCAAG	0.522																																						uc001pqt.2		NA																	0					0						c.(1828-1830)GTG>ATG		ring finger protein 214							58.0	57.0	57.0					11																	117153235		1998	4173	6171	SO:0001583	missense	257160						zinc ion binding	g.chr11:117153235G>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.1828G>A	11.37:g.117153235G>A	ENSP00000431643:p.Val610Met					RNF214_uc001pqu.2_Missense_Mutation_p.V610M|RNF214_uc010rxf.1_Missense_Mutation_p.V455M	p.V610M	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	12	1873	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	610					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1828G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041779	0.35989	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.44482	0.97;0.95;0.92;0.95	5.27	0.643	0.17770	.	0.985116	0.08308	N	0.965805	T	0.21468	0.0517	N	0.08118	0	0.23454	N	0.997648	B;P	0.44380	0.257;0.834	B;B	0.40444	0.083;0.329	T	0.10847	-1.0612	10	0.46703	T	0.11	-0.1595	4.6523	0.12601	0.2812:0.0:0.5727:0.1461	.	455;610	B4DTD1;Q8ND24	.;RN214_HUMAN	M	455;610;455;610;162	ENSP00000435361:V455M;ENSP00000431643:V610M;ENSP00000432903:V455M;ENSP00000300650:V610M	ENSP00000300650:V610M	V	+	1	0	RNF214	116658445	0.984000	0.35163	0.990000	0.47175	0.960000	0.62799	0.429000	0.21412	0.219000	0.20840	-0.367000	0.07326	GTG		0.522	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		14	18	0	0	0	0	14	18				
CEP164	22897	broad.mit.edu	37	11	117253621	117253621	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:117253621G>C	ENST00000278935.3	+	14	1834	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	563	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		TGAGGAGAAGGTGGCGGTCAG	0.637																																						uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1687-1689)GTG>CTG		centrosomal protein 164kDa							58.0	46.0	50.0					11																	117253621		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117253621G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1687G>C	11.37:g.117253621G>C	ENSP00000278935:p.Val563Leu					CEP164_uc001prb.2_Missense_Mutation_p.V566L|CEP164_uc010rxk.1_Missense_Mutation_p.V537L|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	p.V563L	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	14	1834	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	563			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1687G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766228	0.15983	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.58506	0.33	4.13	2.26	0.28386	.	0.641148	0.13834	N	0.359534	T	0.44644	0.1303	L	0.48362	1.52	0.20873	N	0.999837	B;B;B	0.23249	0.049;0.082;0.082	B;B;B	0.27170	0.024;0.077;0.077	T	0.31943	-0.9925	10	0.10111	T	0.7	-3.1652	6.7287	0.23371	0.2124:0.0:0.7876:0.0	.	537;563;566	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	L	563;537	ENSP00000278935:V563L	ENSP00000278935:V563L	V	+	1	0	CEP164	116758831	0.016000	0.18221	0.801000	0.32222	0.367000	0.29736	0.575000	0.23729	0.693000	0.31634	0.655000	0.94253	GTG		0.637	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		17	20	0	0	0	0	17	20				
SORL1	6653	broad.mit.edu	37	11	121475024	121475024	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:121475024G>A	ENST00000260197.7	+	33	4771	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	SORL1_ENST00000534286.1_Missense_Mutation_p.A458T|SORL1_ENST00000532694.1_Missense_Mutation_p.A394T|SORL1_ENST00000527934.1_Missense_Mutation_p.A163T|SORL1_ENST00000525532.1_Missense_Mutation_p.A492T	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1548	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		CGATGAAAAGGCCTGCAGTGG	0.662																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4642-4644)GCC>ACC		sortilin-related receptor containing LDLR class							53.0	49.0	50.0					11																	121475024		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.chr11:121475024G>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.4642G>A	11.37:g.121475024G>A	ENSP00000260197:p.Ala1548Thr					SORL1_uc010rzp.1_Missense_Mutation_p.A394T|SORL1_uc010rzq.1_Missense_Mutation_p.A163T	p.A1548T	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	33	4722	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1548			Extracellular (Potential).|LDL-receptor class A 11.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4642G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876569	0.33162	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.35	2.0	0.26442	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.072340	0.07101	N	0.840463	D	0.88470	0.6445	N	0.13299	0.325	0.09310	N	0.999996	B;B	0.16802	0.001;0.019	B;B	0.27170	0.003;0.077	T	0.78344	-0.2240	10	0.33940	T	0.23	.	7.0809	0.25231	0.4624:0.0:0.5376:0.0	.	163;1548	E9PKB0;Q92673	.;SORL_HUMAN	T	1548;492;394;458;163	ENSP00000260197:A1548T;ENSP00000434634:A492T;ENSP00000432131:A394T;ENSP00000436447:A458T;ENSP00000435405:A163T	ENSP00000260197:A1548T	A	+	1	0	SORL1	120980234	0.877000	0.30153	0.275000	0.24674	0.507000	0.33981	2.844000	0.48246	0.647000	0.30713	-0.136000	0.14681	GCC		0.662	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		20	37	0	0	0	0	20	37				
OR10G4	390264	broad.mit.edu	37	11	123886995	123886995	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:123886995G>T	ENST00000320891.4	+	1	714	c.714G>T	c.(712-714)caG>caT	p.Q238H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	238						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(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGCCTTTCAGACCTGTGCCT	0.542																																						uc010sac.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(712-714)CAG>CAT		olfactory receptor, family 10, subfamily G,							174.0	140.0	152.0					11																	123886995		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886995G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.714G>T	11.37:g.123886995G>T	ENSP00000325076:p.Gln238His						p.Q238H	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	714	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	238			Helical; Name=6; (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.714G>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.607710	0.46527	.	.	ENSG00000254737	ENST00000320891	T	0.00115	8.71	3.33	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001110	T	0.00144	0.0004	N	0.04203	-0.255	0.29474	N	0.856832	D	0.76494	0.999	D	0.77004	0.989	T	0.56062	-0.8041	10	0.87932	D	0	.	2.207	0.03938	0.0996:0.259:0.3554:0.2861	.	238	Q8NGN3	O10G4_HUMAN	H	238	ENSP00000325076:Q238H	ENSP00000325076:Q238H	Q	+	3	2	OR10G4	123392205	0.001000	0.12720	0.946000	0.38457	0.941000	0.58515	-0.201000	0.09464	0.203000	0.20529	0.580000	0.79431	CAG		0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		22	57	1	0	1.5e-11	1.93e-11	22	57				
OR8D2	283160	broad.mit.edu	37	11	124189698	124189698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:124189698G>T	ENST00000357438.2	-	1	486	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	132						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)		TGACAATATTGTAAAGCAGTG	0.443																																						uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(394-396)TAC>TAA		olfactory receptor, family 8, subfamily D,							96.0	89.0	91.0					11																	124189698		2201	4299	6500	SO:0001587	stop_gained	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189698G>T	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.396C>A	11.37:g.124189698G>T	ENSP00000350022:p.Tyr132*						p.Y132*	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	396	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	132			Cytoplasmic (Potential).		B9EH49|Q6IFR0	Nonsense_Mutation	SNP	ENST00000357438.2	37	c.396C>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	14.59	2.579523	0.46006	.	.	ENSG00000197263	ENST00000357438	.	.	.	3.6	-3.24	0.05094	.	0.000000	0.42420	D	0.000705	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7914	0.52072	0.6439:0.0:0.3561:0.0	.	.	.	.	X	132	.	ENSP00000350022:Y132X	Y	-	3	2	OR8D2	123694908	0.000000	0.05858	0.002000	0.10522	0.137000	0.21094	-0.329000	0.07935	-0.667000	0.05303	-0.489000	0.04712	TAC		0.443	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		11	32	1	0	2.81e-09	3.47e-09	11	32				
FAM118B	79607	broad.mit.edu	37	11	126110725	126110725	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:126110725A>C	ENST00000533050.1	+	4	618	c.125A>C	c.(124-126)gAa>gCa	p.E42A	FAM118B_ENST00000360194.4_Missense_Mutation_p.E42A|FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000529731.1_Missense_Mutation_p.E42A	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AAGCCTCGAGAACTTGTGCTA	0.443																																						uc001qdf.2		NA																	0					0						c.(124-126)GAA>GCA		hypothetical protein LOC79607							152.0	165.0	161.0					11																	126110725		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126110725A>C	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.125A>C	11.37:g.126110725A>C	ENSP00000433343:p.Glu42Ala					FAM118B_uc009zca.2_Missense_Mutation_p.E46A|FAM118B_uc001qdg.2_Missense_Mutation_p.E42A	p.E42A	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	4	308	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	42					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.125A>C	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831581	0.91036	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.54675	1.29;1.29;0.58;1.29;0.56;0.59	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	N	0.19112	0.55	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.73708	0.981;0.971;0.971	T	0.59511	-0.7441	10	0.37606	T	0.19	-34.0041	16.4052	0.83662	1.0:0.0:0.0:0.0	.	42;42;42	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	A	42	ENSP00000433343:E42A;ENSP00000434952:E42A;ENSP00000432712:E42A;ENSP00000353321:E42A;ENSP00000437285:E42A;ENSP00000435754:E42A	ENSP00000353321:E42A	E	+	2	0	FAM118B	125615935	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	9.097000	0.94193	2.279000	0.76181	0.402000	0.26972	GAA		0.443	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		64	148	0	0	0	0	64	148				
KCNJ1	3758	broad.mit.edu	37	11	128709440	128709440	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:128709440T>A	ENST00000392664.2	-	2	872	c.756A>T	c.(754-756)gtA>gtT	p.V252V	KCNJ1_ENST00000392665.2_Silent_p.V233V|KCNJ1_ENST00000324036.3_Silent_p.V233V|KCNJ1_ENST00000440599.2_Silent_p.V233V|KCNJ1_ENST00000392666.1_Silent_p.V233V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	252					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CAGCGTCAACTACAAAGTTGA	0.428																																						uc001qeo.1		NA																	0				ovary(3)|breast(1)	4						c.(754-756)GTA>GTT		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						91.0	98.0	95.0					11																	128709440		2201	4297	6498	SO:0001819	synonymous_variant	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709440T>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.756A>T	11.37:g.128709440T>A						KCNJ1_uc001qep.1_Silent_p.V233V|KCNJ1_uc001qeq.1_Silent_p.V233V|KCNJ1_uc001qer.1_Silent_p.V233V|KCNJ1_uc001qes.1_Silent_p.V233V	p.V252V	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	807	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	252			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Silent	SNP	ENST00000392664.2	37	c.756A>T	CCDS8476.1																																																																																				0.428	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		40	92	0	0	0	0	40	92				
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	C	rs560079674		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr11:132307171G>C	ENST00000331898.7	-	4	1187	c.609C>G	c.(607-609)agC>agG	p.S203R	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(607-609)AGC>AGG		opioid binding protein/cell adhesion							113.0	97.0	103.0					11																	132307171		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307171G>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.609C>G	11.37:g.132307171G>C	ENSP00000330862:p.Ser203Arg					OPCML_uc001qgu.2_Missense_Mutation_p.S196R|OPCML_uc010sck.1_Missense_Mutation_p.S203R|OPCML_uc001qgt.2_Missense_Mutation_p.S202R|OPCML_uc010scl.1_Missense_Mutation_p.S162R	p.S203R	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	659	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	203			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.609C>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127555	0.37533	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.6	0.397	0.16314	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.044250	0.85682	D	0.000000	T	0.45895	0.1365	N	0.21583	0.68	0.36295	D	0.856654	B;B;B;B	0.34214	0.442;0.442;0.308;0.308	B;B;B;B	0.37422	0.249;0.249;0.249;0.249	T	0.48636	-0.9018	10	0.56958	D	0.05	-29.7245	8.9658	0.35877	0.4635:0.0:0.5365:0.0	.	203;196;202;203	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	R	203;196;162;170;203	ENSP00000330862:S203R;ENSP00000434750:S196R;ENSP00000363910:S162R;ENSP00000445496:S203R	ENSP00000330862:S203R	S	-	3	2	OPCML	131812381	0.953000	0.32496	0.998000	0.56505	0.666000	0.39218	0.061000	0.14366	0.027000	0.15297	0.563000	0.77884	AGC		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		26	42	0	0	0	0	26	42				
LEPREL2	10536	broad.mit.edu	37	12	6943184	6943184	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:6943184G>T	ENST00000538102.1	+	0	579				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCCCAGCCGAGTGTGGGGT	0.587																																						uc001qra.1		NA																	0					0						c.(1429-1431)GAG>TAG		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						61.0	69.0	66.0					12																	6943184		2024	4187	6211			10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6943184G>T	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6943184G>T						LEPREL2_uc001qqz.1_Nonsense_Mutation_p.E284*|LEPREL2_uc001qrb.1_Nonsense_Mutation_p.E284*	p.E477*	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			11	1463	+			477					Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Nonsense_Mutation	SNP	ENST00000538102.1	37	c.1429G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.626260	0.97718	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1466	17.8616	0.88783	0.0:0.0:1.0:0.0	.	.	.	.	X	476;292	.	ENSP00000290510:E292X	E	+	1	0	LEPREL2	6813445	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	6.527000	0.73803	2.440000	0.82611	0.561000	0.74099	GAG		0.587	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		28	55	1	0	1.18e-12	1.54e-12	28	55				
CD163	9332	broad.mit.edu	37	12	7640427	7640427	+	Silent	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:7640427T>G	ENST00000359156.4	-	7	1879	c.1677A>C	c.(1675-1677)gtA>gtC	p.V559V	CD163_ENST00000541972.1_Silent_p.V547V|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Silent_p.V559V|CD163_ENST00000432237.2_Silent_p.V559V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	559	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCGGGGTGCTACTGGGCAGA	0.502																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1675-1677)GTA>GTC		CD163 antigen isoform a							100.0	96.0	97.0					12																	7640427		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640427T>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1677A>C	12.37:g.7640427T>G						CD163_uc001qta.3_Silent_p.V559V|CD163_uc009zfw.2_Silent_p.V559V	p.V559V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			7	1805	-			559			SRCR 5.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.1677A>C	CCDS8578.1																																																																																				0.502	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		32	58	0	0	0	0	32	58				
KLRB1	3820	broad.mit.edu	37	12	9751243	9751243	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:9751243G>T	ENST00000229402.3	-	4	312	c.266C>A	c.(265-267)cCg>cAg	p.P89Q		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	89					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						TAAGAGACCCGGTCTCTCTAA	0.373																																						uc010sgt.1		NA																	0					0						c.(265-267)CCG>CAG		killer cell lectin-like receptor subfamily B,							64.0	67.0	66.0					12																	9751243		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9751243G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.266C>A	12.37:g.9751243G>T	ENSP00000229402:p.Pro89Gln						p.P89Q	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			4	328	-			89			Extracellular (Potential).		Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.266C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502687	0.44558	.	.	ENSG00000111796	ENST00000229402	T	0.28666	1.6	3.63	3.63	0.41609	C-type lectin fold (1);	0.164377	0.29321	N	0.012484	T	0.39517	0.1081	L	0.47190	1.495	0.09310	N	1	D	0.63046	0.992	P	0.59221	0.854	T	0.09509	-1.0671	10	0.30854	T	0.27	-8.838	11.1063	0.48205	0.0:0.0:1.0:0.0	.	89	Q12918	KLRB1_HUMAN	Q	89	ENSP00000229402:P89Q	ENSP00000229402:P89Q	P	-	2	0	KLRB1	9642510	0.001000	0.12720	0.186000	0.23195	0.007000	0.05969	0.932000	0.28884	2.319000	0.78375	0.650000	0.86243	CCG		0.373	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		32	72	1	0	4.32e-10	5.41e-10	32	72				
GUCY2C	2984	broad.mit.edu	37	12	14766128	14766128	+	Missense_Mutation	SNP	G	G	A	rs140551603		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14766128G>A	ENST00000261170.3	-	27	3281	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1049					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)	CTGGCTACCCGTCTGGGTTTT	0.433																																						uc001rcd.2		NA																	0				ovary(4)|skin(2)	6						c.(3145-3147)CGG>TGG		guanylate cyclase 2C precursor							230.0	236.0	234.0					12																	14766128		2203	4300	6503	SO:0001583	missense	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.chr12:14766128G>A		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.3145C>T	12.37:g.14766128G>A	ENSP00000261170:p.Arg1049Trp						p.R1049W	NM_004963	NP_004954	P25092	GUC2C_HUMAN			27	3282	-			1049			Cytoplasmic (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.3145C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023925	0.54683	.	.	ENSG00000070019	ENST00000261170	D	0.83163	-1.69	5.85	5.85	0.93711	.	0.182353	0.48286	D	0.000182	D	0.86859	0.6034	M	0.66939	2.045	0.53005	D	0.999963	D	0.76494	0.999	P	0.53360	0.724	D	0.87867	0.2668	10	0.72032	D	0.01	.	14.9423	0.71003	0.0:0.0:0.8571:0.1429	.	1049	P25092	GUC2C_HUMAN	W	1049	ENSP00000261170:R1049W	ENSP00000261170:R1049W	R	-	1	2	GUCY2C	14657395	0.905000	0.30787	0.308000	0.25141	0.271000	0.26615	2.330000	0.43885	2.773000	0.95371	0.655000	0.94253	CGG		0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			74	158	0	0	0	0	74	158				
ART4	420	broad.mit.edu	37	12	14993877	14993877	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:14993877G>T	ENST00000228936.4	-	2	736	c.355C>A	c.(355-357)Cac>Aac	p.H119N	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	119					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GCCACAGCGTGTGTGGTAGTC	0.438																																						uc001rcl.1		NA																	0					0						c.(355-357)CAC>AAC		ADP-ribosyltransferase 4 precursor							155.0	147.0	150.0					12																	14993877		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993877G>T	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.355C>A	12.37:g.14993877G>T	ENSP00000228936:p.His119Asn					ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.H119N	p.H119N	NM_021071	NP_066549	Q93070	NAR4_HUMAN			2	721	-			119					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.355C>A	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775630	0.31411	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.09817	2.94;2.94	4.35	4.35	0.52113	.	0.166402	0.53938	D	0.000048	T	0.33760	0.0874	M	0.86573	2.825	0.30871	N	0.732476	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36383	-0.9750	10	0.87932	D	0	-3.6271	8.4269	0.32733	0.1026:0.0:0.8974:0.0	.	119;119	A8K6J7;Q93070	.;NAR4_HUMAN	N	119;102	ENSP00000228936:H119N;ENSP00000405689:H102N	ENSP00000228936:H119N	H	-	1	0	ART4	14885144	1.000000	0.71417	0.924000	0.36721	0.019000	0.09904	4.137000	0.58010	2.716000	0.92895	0.563000	0.77884	CAC		0.438	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		44	87	1	0	4.19e-23	5.91e-23	44	87				
PTPRO	5800	broad.mit.edu	37	12	15654948	15654948	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:15654948C>G	ENST00000281171.4	+	5	1386	c.1056C>G	c.(1054-1056)ccC>ccG	p.P352P	PTPRO_ENST00000543886.1_Silent_p.P352P|PTPRO_ENST00000348962.2_Silent_p.P352P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	352	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTACCACCCAAACCACCCA	0.418																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(1054-1056)CCC>CCG		receptor-type protein tyrosine phosphatase O							89.0	83.0	85.0					12																	15654948		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654948C>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1056C>G	12.37:g.15654948C>G						PTPRO_uc001rcw.1_Silent_p.P352P|PTPRO_uc001rcu.1_Silent_p.P352P	p.P352P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	1230	+		Hepatocellular(102;0.244)	352			Fibronectin type-III 4.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1056C>G	CCDS8675.1																																																																																				0.418	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	63	0	0	0	0	21	63				
SLCO1C1	53919	broad.mit.edu	37	12	20876190	20876190	+	Splice_Site	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:20876190T>G	ENST00000266509.2	+	9	1554		c.e9+2		SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000381552.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTGTGATCGGTATGCTCATCT	0.443																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.e10+2		solute carrier organic anion transporter family,							133.0	115.0	121.0					12																	20876190		2203	4300	6503	SO:0001630	splice_region_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876190T>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1186+2T>G	12.37:g.20876190T>G						SLCO1C1_uc010sii.1_Splice_Site_p.G396_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G347_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G230_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G396_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G278_splice	p.G396_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1541	+	Esophageal squamous(101;0.149)							B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Splice_Site	SNP	ENST00000266509.2	37	c.1186_splice	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.718286	0.30503	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5044	0.61476	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1C1	20767457	1.000000	0.71417	0.976000	0.42696	0.092000	0.18411	7.482000	0.81143	2.031000	0.59945	0.459000	0.35465	.		0.443	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	Intron	17	40	0	0	0	0	17	40				
RECQL	5965	broad.mit.edu	37	12	21629893	21629893	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:21629893T>C	ENST00000444129.2	-	8	1369	c.901A>G	c.(901-903)Att>Gtt	p.I301V	RECQL_ENST00000421138.2_Missense_Mutation_p.I301V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	301	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATATCCTCAATAAAATCTTCA	0.338								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NA																	0				ovary(1)|lung(1)	2						c.(901-903)ATT>GTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							99.0	92.0	94.0					12																	21629893		2202	4299	6501	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21629893T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.901A>G	12.37:g.21629893T>C	ENSP00000416739:p.Ile301Val					RECQL_uc001rey.2_Missense_Mutation_p.I301V	p.I301V	NM_032941	NP_116559	P46063	RECQ1_HUMAN			9	1249	-			301			Helicase C-terminal.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.901A>G	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345464	0.24426	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.76186	-1.0;-1.0	5.52	5.52	0.82312	Helicase, C-terminal (1);	0.266395	0.42294	D	0.000728	T	0.53530	0.1802	N	0.10618	0.005	0.29778	N	0.834261	B	0.10296	0.003	B	0.08055	0.003	T	0.42932	-0.9422	10	0.12430	T	0.62	-18.112	14.2103	0.65759	0.0:0.0:0.0:1.0	.	301	P46063	RECQ1_HUMAN	V	301	ENSP00000416739:I301V;ENSP00000395449:I301V	ENSP00000395449:I301V	I	-	1	0	RECQL	21521160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.009000	0.49552	2.091000	0.63221	0.455000	0.32223	ATT		0.338	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		13	39	0	0	0	0	13	39				
PPFIBP1	8496	broad.mit.edu	37	12	27844781	27844781	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:27844781G>C	ENST00000318304.8	+	27	3086	c.2803G>C	c.(2803-2805)Gga>Cga	p.G935R	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G782R|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G904R|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G929R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	935					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACAGGCATCAGGAAGTGCATC	0.403																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(2803-2805)GGA>CGA		PTPRF interacting protein binding protein 1							214.0	203.0	207.0					12																	27844781		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27844781G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2803G>C	12.37:g.27844781G>C	ENSP00000314724:p.Gly935Arg					PPFIBP1_uc010sjr.1_Missense_Mutation_p.G766R|PPFIBP1_uc001rib.1_Missense_Mutation_p.G929R|PPFIBP1_uc001ria.2_Missense_Mutation_p.G904R|PPFIBP1_uc001rid.1_Missense_Mutation_p.G782R|PPFIBP1_uc001rif.1_Missense_Mutation_p.G442R	p.G935R	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			27	3180	+	Lung SC(9;0.0873)		935					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2803G>C	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294655|2.294655	0.40594|0.40594	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T|.	0.33438|.	1.41;1.83;1.83;1.81|.	5.5|5.5	4.41|4.41	0.53225|0.53225	.|.	0.234691|.	0.21926|.	U|.	0.067097|.	T|T	0.61553|0.61553	0.2356|0.2356	L|L	0.45581|0.45581	1.43|1.43	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B;B|.	0.20988|.	0.025;0.03;0.011;0.05|.	B;B;B;B|.	0.33339|.	0.047;0.078;0.022;0.162|.	T|T	0.57969|0.57969	-0.7719|-0.7719	9|5	.|.	.|.	.|.	-26.6557|-26.6557	14.8925|14.8925	0.70620|0.70620	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	782;935;929;904|.	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4|.	.;LIPB1_HUMAN;.;.|.	R|H	782;935;904;929|165	ENSP00000445425:G782R;ENSP00000314724:G935R;ENSP00000443442:G904R;ENSP00000228425:G929R|.	.|.	G|Q	+|+	1|3	0|2	PPFIBP1|PPFIBP1	27736048|27736048	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.732000|0.732000	0.41865|0.41865	5.119000|5.119000	0.64679|0.64679	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.403	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		38	81	0	0	0	0	38	81				
KIF21A	55605	broad.mit.edu	37	12	39720119	39720119	+	Silent	SNP	T	T	C	rs191460813	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:39720119T>C	ENST00000361418.5	-	25	3363	c.3348A>G	c.(3346-3348)gtA>gtG	p.V1116V	KIF21A_ENST00000544797.2_Silent_p.V1096V|KIF21A_ENST00000541463.2_Silent_p.V1080V|KIF21A_ENST00000361961.3_Silent_p.V1103V|KIF21A_ENST00000395670.3_Silent_p.V1116V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1116					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTATCCTCTACATTTTCTA	0.358													T|||	2	0.000399361	0.0	0.0029	5008	,	,		17282	0.0		0.0	False		,,,				2504	0.0					uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3346-3348)GTA>GTG		kinesin family member 21A							93.0	86.0	88.0					12																	39720119		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39720119T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3348A>G	12.37:g.39720119T>C						KIF21A_uc001rlv.2_Silent_p.V121V|KIF21A_uc001rlw.2_Silent_p.V433V|KIF21A_uc001rlx.2_Silent_p.V1103V|KIF21A_uc001rlz.2_Silent_p.V1080V|KIF21A_uc010skl.1_Silent_p.V1096V	p.V1116V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			25	3494	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1116					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3348A>G	CCDS53776.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	8.326	0.825510	0.16749	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.29	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7562	0.28925	0.0:0.2132:0.0:0.7868	.	.	.	.	W	464	.	.	X	-	2	0	KIF21A	38006386	1.000000	0.71417	0.986000	0.45419	0.824000	0.46624	0.691000	0.25467	0.814000	0.34374	0.528000	0.53228	TAG		0.358	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		11	35	0	0	0	0	11	35				
LRRK2	120892	broad.mit.edu	37	12	40707845	40707845	+	Silent	SNP	G	G	C	rs202073944		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:40707845G>C	ENST00000298910.7	+	32	4666	c.4608G>C	c.(4606-4608)tcG>tcC	p.S1536S	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1536					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCATTTTATCGGAGCGTAAAA	0.373																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4606-4608)TCG>TCC		leucine-rich repeat kinase 2							72.0	71.0	72.0					12																	40707845		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40707845G>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4608G>C	12.37:g.40707845G>C						LRRK2_uc009zjw.2_Silent_p.S374S|LRRK2_uc001rmi.2_Silent_p.S369S	p.S1536S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			32	4729	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1536					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.4608G>C	CCDS31774.1																																																																																				0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	37	0	0	0	0	13	37				
NELL2	4753	broad.mit.edu	37	12	45173741	45173741	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:45173741G>A	ENST00000429094.2	-	4	904	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	NELL2_ENST00000333837.4_Missense_Mutation_p.H157Y|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.H184Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H134Y|NELL2_ENST00000549027.1_Missense_Mutation_p.H133Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H133Y|NELL2_ENST00000551601.1_Missense_Mutation_p.H133Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	134	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)		TGAGGGCGGTGACTGCCTGAG	0.473																																						uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(400-402)CAC>TAC		NEL-like protein 2 isoform b precursor							175.0	156.0	162.0					12																	45173741		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173741G>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.400C>T	12.37:g.45173741G>A	ENSP00000390680:p.His134Tyr					NELL2_uc001rof.3_Missense_Mutation_p.H133Y|NELL2_uc001roh.2_Missense_Mutation_p.H134Y|NELL2_uc009zkd.2_Missense_Mutation_p.H133Y|NELL2_uc010skz.1_Missense_Mutation_p.H184Y|NELL2_uc010sla.1_Missense_Mutation_p.H157Y|NELL2_uc001roi.1_Missense_Mutation_p.H134Y|NELL2_uc010slb.1_Missense_Mutation_p.H133Y|NELL2_uc001roj.2_Missense_Mutation_p.H134Y	p.H134Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	995	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	134			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.400C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486544	0.63962	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41	5.5	4.58	0.56647	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);	0.216900	0.49305	D	0.000151	T	0.02929	0.0087	N	0.22421	0.69	0.43275	D	0.995233	B;P;B;B;B;B	0.35527	0.202;0.507;0.305;0.09;0.355;0.288	B;B;B;B;B;B	0.40038	0.14;0.317;0.175;0.099;0.179;0.317	T	0.62623	-0.6815	10	0.46703	T	0.11	-7.1311	15.7275	0.77774	0.0:0.0:0.863:0.137	.	157;184;133;134;134;133	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	Y	133;134;133;134;133;157;184;133;134;131	ENSP00000378866:H133Y;ENSP00000390680:H134Y;ENSP00000449332:H133Y;ENSP00000394612:H134Y;ENSP00000447927:H133Y;ENSP00000327988:H157Y;ENSP00000416341:H184Y;ENSP00000447085:H134Y;ENSP00000447384:H131Y	ENSP00000327988:H157Y	H	-	1	0	NELL2	43460008	1.000000	0.71417	0.787000	0.31911	0.982000	0.71751	5.410000	0.66381	2.577000	0.86979	0.655000	0.94253	CAC		0.473	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		32	79	0	0	0	0	32	79				
KRT6C	286887	broad.mit.edu	37	12	52862855	52862855	+	Silent	SNP	G	G	A	rs201858772		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:52862855G>A	ENST00000252250.6	-	9	1733	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	562	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TTTAGTGCTTGTAGCTCTTCC	0.612																																						uc001sal.3		NA																	0				ovary(2)	2						c.(1684-1686)TAC>TAT		keratin 6C							103.0	101.0	102.0					12																	52862855		2203	4300	6503	SO:0001819	synonymous_variant	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52862855G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1686C>T	12.37:g.52862855G>A							p.Y562Y	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	9	1734	-			562			Tail.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	c.1686C>T	CCDS8829.1																																																																																				0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		4	50	0	0	0	0	4	50				
ANKRD52	283373	broad.mit.edu	37	12	56641850	56641850	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:56641850G>A	ENST00000267116.7	-	18	2056	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	645										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCTTGATGAGGGCAGAGG	0.632																																						uc001skm.3		NA																	0				ovary(2)	2						c.(1933-1935)CTC>CTT		ankyrin repeat domain 52							30.0	35.0	34.0					12																	56641850		2057	4200	6257	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56641850G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1935C>T	12.37:g.56641850G>A							p.L645L	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			18	2025	-			645			ANK 18.		A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1935C>T	CCDS44920.1																																																																																				0.632	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		11	19	0	0	0	0	11	19				
GNS	2799	broad.mit.edu	37	12	65130829	65130829	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:65130829T>C	ENST00000258145.3	-	9	1223	c.1053A>G	c.(1051-1053)ccA>ccG	p.P351P	GNS_ENST00000543646.1_Silent_p.P383P|GNS_ENST00000542058.1_Silent_p.P331P|GNS_ENST00000418919.2_Silent_p.P295P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	351					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GAACCAACAGTGGAACTTTGA	0.453																																						uc001ssg.3		NA																	0				central_nervous_system(1)	1						c.(1051-1053)CCA>CCG		glucosamine (N-acetyl)-6-sulfatase precursor							139.0	131.0	134.0					12																	65130829		2203	4300	6503	SO:0001819	synonymous_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65130829T>C		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1053A>G	12.37:g.65130829T>C						GNS_uc001ssf.2_Silent_p.P295P|GNS_uc010ssq.1_Silent_p.P383P|GNS_uc010ssr.1_Silent_p.P331P	p.P351P	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	9	1223	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		351					B4DYH8|Q53F05	Silent	SNP	ENST00000258145.3	37	c.1053A>G	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423327	0.25639	.	.	ENSG00000135677	ENST00000540196	.	.	.	5.49	0.0891	0.14457	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39820	-0.9595	4	.	.	.	-12.9544	6.0341	0.19697	0.0:0.1368:0.2574:0.6059	.	.	.	.	A	171	.	.	T	-	1	0	GNS	63417096	0.998000	0.40836	0.998000	0.56505	0.951000	0.60555	0.516000	0.22817	0.128000	0.18479	-0.388000	0.06559	ACT		0.453	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			16	51	0	0	0	0	16	51				
PPFIA2	8499	broad.mit.edu	37	12	81768458	81768458	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:81768458A>T	ENST00000549396.1	-	11	1381	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	PPFIA2_ENST00000550584.2_Silent_p.P407P|PPFIA2_ENST00000548586.1_Silent_p.P407P|PPFIA2_ENST00000407050.4_Silent_p.P333P|PPFIA2_ENST00000549325.1_Silent_p.P389P|PPFIA2_ENST00000552948.1_Silent_p.P407P|PPFIA2_ENST00000443686.3_Silent_p.P308P|PPFIA2_ENST00000333447.7_Silent_p.P389P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.P254P	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	407	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCTCTACTTCAGGCAAGGTTT	0.433																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1219-1221)CCT>CCA		PTPRF interacting protein alpha 2							148.0	140.0	142.0					12																	81768458		1920	4119	6039	SO:0001819	synonymous_variant	8499							g.chr12:81768458A>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1221T>A	12.37:g.81768458A>T						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.P407P	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			11	1382	-			333					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.1221T>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	A	3.655	-0.070642	0.07228	.	.	ENSG00000139220	ENST00000548790	.	.	.	5.75	1.56	0.23342	.	.	.	.	.	T	0.51941	0.1704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40961	-0.9535	4	.	.	.	-17.8207	5.4596	0.16610	0.6578:0.0:0.1424:0.1998	.	.	.	.	Q	246	.	.	L	-	2	0	PPFIA2	80292589	0.379000	0.25123	1.000000	0.80357	0.243000	0.25628	-0.182000	0.09726	0.533000	0.28675	-0.290000	0.09829	CTG		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			39	61	0	0	0	0	39	61				
UHRF1BP1L	23074	broad.mit.edu	37	12	100492321	100492321	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:100492321T>C	ENST00000279907.7	-	5	551		c.e5-2		UHRF1BP1L_ENST00000356828.3_Splice_Site	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCGTATTCACTGGAAAAACAA	0.328																																						uc001tgq.2		NA																	0				ovary(2)	2						c.e5-1		UHRF1 (ICBP90) binding protein 1-like isoform a							47.0	48.0	47.0					12																	100492321		2201	4300	6501	SO:0001630	splice_region_variant	23074							g.chr12:100492321T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.339-2A>G	12.37:g.100492321T>C						UHRF1BP1L_uc001tgr.2_Splice_Site_p.S113_splice	p.S113_splice	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			5	568	-								A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Splice_Site	SNP	ENST00000279907.7	37	c.339_splice	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158175	0.78114	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9593	0.71144	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UHRF1BP1L	99016452	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.946000	0.87746	1.939000	0.56221	0.482000	0.46254	.		0.328	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	Intron	16	23	0	0	0	0	16	23				
NT5DC3	51559	broad.mit.edu	37	12	104187036	104187036	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:104187036C>T	ENST00000392876.3	-	9	965	c.925G>A	c.(925-927)Ggg>Agg	p.G309R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	309						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TAACTCATCCCTTTGTCCCTA	0.418																																						uc010swe.1		NA																	0				ovary(2)|skin(1)	3						c.(925-927)GGG>AGG		5'-nucleotidase domain containing 3							177.0	183.0	181.0					12																	104187036		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187036C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.925G>A	12.37:g.104187036C>T	ENSP00000376615:p.Gly309Arg						p.G309R	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			9	966	-			309					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.925G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237021	0.95240	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67304	-0.5704	10	0.66056	D	0.02	-34.8688	20.4777	0.99188	0.0:1.0:0.0:0.0	.	309	Q86UY8	NT5D3_HUMAN	R	309	ENSP00000376615:G309R	ENSP00000376615:G309R	G	-	1	0	NT5DC3	102711166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GGG		0.418	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		63	167	0	0	0	0	63	167				
SLC41A2	84102	broad.mit.edu	37	12	105321903	105321903	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:105321903T>G	ENST00000258538.3	-	1	530	c.403A>C	c.(403-405)Ata>Cta	p.I135L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	135					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TCACTAGATATATCTTCATCT	0.393																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NA																	0				ovary(1)|skin(1)	2						c.(403-405)ATA>CTA		solute carrier family 41, member 2							224.0	213.0	217.0					12																	105321903		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105321903T>G	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.403A>C	12.37:g.105321903T>G	ENSP00000258538:p.Ile135Leu						p.I135L	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			1	570	-			135			Extracellular.		Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.403A>C	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	T	5.907	0.351379	0.11182	.	.	ENSG00000136052	ENST00000258538;ENST00000415674	T	0.22134	1.97	6.13	-12.3	0.00002	.	4.041280	0.00604	N	0.000394	T	0.08492	0.0211	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12016	-1.0564	10	0.20046	T	0.44	-18.3161	12.8951	0.58095	0.0:0.1485:0.3113:0.5402	.	135	Q96JW4	S41A2_HUMAN	L	135	ENSP00000258538:I135L	ENSP00000258538:I135L	I	-	1	0	SLC41A2	103846033	0.000000	0.05858	0.000000	0.03702	0.784000	0.44337	-1.822000	0.01711	-2.740000	0.00379	-1.989000	0.00450	ATA		0.393	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		34	75	0	0	0	0	34	75				
NUAK1	9891	broad.mit.edu	37	12	106461453	106461453	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:106461453G>T	ENST00000261402.2	-	7	2492	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	371					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTCTTTCTTGGATTTCTTCA	0.547																																						uc001tlj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1111-1113)TCC>TCA		AMPK-related protein kinase 5							101.0	96.0	98.0					12																	106461453		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461453G>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1113C>A	12.37:g.106461453G>T							p.S371S	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	2493	-			371					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1113C>A	CCDS31892.1																																																																																				0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		32	68	1	0	1.46e-13	1.93e-13	32	68				
WSCD2	9671	broad.mit.edu	37	12	108603974	108603974	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:108603974G>C	ENST00000332082.4	+	5	1392	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	WSCD2_ENST00000261400.3_Missense_Mutation_p.E192Q|WSCD2_ENST00000549903.1_Missense_Mutation_p.E192Q|WSCD2_ENST00000547525.1_Missense_Mutation_p.E192Q			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	192	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.E192K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACGTGAGCGAGGCAGAGTG	0.677																																						uc001tms.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(574-576)GAG>CAG		WSC domain containing 2							33.0	39.0	37.0					12																	108603974		2202	4296	6498	SO:0001583	missense	9671					integral to membrane		g.chr12:108603974G>C		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.574G>C	12.37:g.108603974G>C	ENSP00000331933:p.Glu192Gln					WSCD2_uc001tmt.2_Missense_Mutation_p.E192Q	p.E192Q	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			4	1318	+			192			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.574G>C	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.054000	0.36277	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.12	4.17	0.49024	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.242826	0.41500	D	0.000879	T	0.41604	0.1166	L	0.35288	1.05	0.53005	D	0.999964	B	0.15719	0.014	B	0.16722	0.016	T	0.24012	-1.0172	10	0.17369	T	0.5	-24.3822	15.987	0.80160	0.0:0.1473:0.8527:0.0	.	192	Q2TBF2	WSCD2_HUMAN	Q	192;192;39;192;192	ENSP00000448047:E192Q;ENSP00000261400:E192Q;ENSP00000446744:E39Q;ENSP00000331933:E192Q;ENSP00000447272:E192Q	ENSP00000261400:E192Q	E	+	1	0	WSCD2	107128104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.894000	0.69806	2.379000	0.81126	0.555000	0.69702	GAG		0.677	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		8	26	0	0	0	0	8	26				
HECTD4	283450	broad.mit.edu	37	12	112673511	112673511	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:112673511G>A	ENST00000430131.2	-	35	5401	c.4256C>T	c.(4255-4257)cCg>cTg	p.P1419L	HECTD4_ENST00000377560.5_Missense_Mutation_p.P1669L|HECTD4_ENST00000550722.1_Missense_Mutation_p.P1695L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1419					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTTTGGAGACGGGCGTTGGTC	0.562																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(4255-4257)CCG>CTG		chromosome 12 open reading frame 51							40.0	42.0	41.0					12																	112673511		2014	4178	6192	SO:0001583	missense	283450							g.chr12:112673511G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4256C>T	12.37:g.112673511G>A	ENSP00000404379:p.Pro1419Leu						p.P1419L	NM_001109662	NP_001103132					29	4274	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.4256C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.515811	0.96402	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53640	0.61;0.62;0.61	6.03	6.03	0.97812	.	.	.	.	.	T	0.58192	0.2105	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.61768	-0.6995	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1419	Q9Y4D8	K0614_HUMAN	L	1669;1419;1695	ENSP00000366783:P1669L;ENSP00000404379:P1419L;ENSP00000449784:P1695L	ENSP00000366783:P1669L	P	-	2	0	C12orf51	111157894	1.000000	0.71417	0.926000	0.36857	0.973000	0.67179	9.363000	0.97131	2.854000	0.98071	0.655000	0.94253	CCG		0.562	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	21	0	0	0	0	11	21				
HECTD4	283450	broad.mit.edu	37	12	112684766	112684766	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:112684766G>C	ENST00000430131.2	-	28	4331	c.3186C>G	c.(3184-3186)gtC>gtG	p.V1062V	HECTD4_ENST00000377560.5_Silent_p.V1312V|HECTD4_ENST00000550722.1_Silent_p.V1338V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1062					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGCGATGGTGACATGCAGCA	0.493																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(3184-3186)GTC>GTG		chromosome 12 open reading frame 51							74.0	73.0	73.0					12																	112684766		1880	4104	5984	SO:0001819	synonymous_variant	283450							g.chr12:112684766G>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3186C>G	12.37:g.112684766G>C							p.V1062V	NM_001109662	NP_001103132					22	3204	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.3186C>G																																																																																					0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	24	0	0	0	0	22	24				
RASAL1	8437	broad.mit.edu	37	12	113543582	113543582	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113543582G>A	ENST00000261729.5	-	17	2079	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F588F|RASAL1_ENST00000548055.1_Silent_p.F589F|RASAL1_ENST00000546530.1_Silent_p.F590F			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCGCTTCTTGAAGGCAAAGC	0.637																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(1762-1764)TTC>TTT		RAS protein activator like 1							66.0	70.0	68.0					12																	113543582		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113543582G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1764C>T	12.37:g.113543582G>A						RASAL1_uc010syp.1_Silent_p.F589F|RASAL1_uc001tul.2_Silent_p.F588F|RASAL1_uc001tun.1_Silent_p.F590F|RASAL1_uc010syq.1_Silent_p.F589F|RASAL1_uc001tuo.3_Silent_p.F589F	p.F588F	NM_004658	NP_004649	O95294	RASL1_HUMAN			17	2057	-			588			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.1764C>T	CCDS9165.1																																																																																				0.637	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		31	54	0	0	0	0	31	54				
IQCD	115811	broad.mit.edu	37	12	113645397	113645397	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:113645397C>T	ENST00000416617.2	-	2	765	c.575G>A	c.(574-576)gGt>gAt	p.G192D	IQCD_ENST00000546692.1_Missense_Mutation_p.G192D|IQCD_ENST00000299732.2_Missense_Mutation_p.G192D			Q96DY2	IQCD_HUMAN	IQ motif containing D	192										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAACAGGAAACCACGGAGCTC	0.473																																						uc001tuv.1		NA																	0				ovary(1)	1						c.(574-576)GGT>GAT		IQ motif containing D							107.0	101.0	103.0					12																	113645397		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645397C>T	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.575G>A	12.37:g.113645397C>T	ENSP00000400669:p.Gly192Asp					IQCD_uc001tuu.2_Missense_Mutation_p.G192D	p.G192D	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN			2	997	-			192					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670888	0.47781	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10573	2.86;2.86;2.86	5.25	4.35	0.52113	.	0.378221	0.27294	N	0.020039	T	0.27384	0.0672	M	0.72894	2.215	0.09310	N	1	D;D	0.89917	1.0;0.996	D;P	0.73380	0.98;0.872	T	0.03103	-1.1072	10	0.49607	T	0.09	-13.3986	8.7933	0.34863	0.1484:0.7699:0.0:0.0817	.	192;192	F8VZV9;Q96DY2-2	.;.	D	192	ENSP00000299732:G192D;ENSP00000400669:G192D;ENSP00000446623:G192D	ENSP00000299732:G192D	G	-	2	0	IQCD	112129780	0.000000	0.05858	0.107000	0.21349	0.011000	0.07611	0.936000	0.28938	2.442000	0.82660	0.563000	0.77884	GGT		0.473	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		22	66	0	0	0	0	22	66				
SRRM4	84530	broad.mit.edu	37	12	119563220	119563220	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:119563220C>A	ENST00000267260.4	+	7	938	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	184	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACCGCCACCGCCATCACCG	0.612																																						uc001txa.1		NA																	0				ovary(2)	2						c.(550-552)CGC>AGC		KIAA1853 protein							39.0	50.0	47.0					12																	119563220		2008	4159	6167	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119563220C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.550C>A	12.37:g.119563220C>A	ENSP00000267260:p.Arg184Ser						p.R184S	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			7	842	+			184			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.550C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410313	0.62399	.	.	ENSG00000139767	ENST00000267260	T	0.26518	1.73	5.66	4.75	0.60458	.	0.083137	0.40728	N	0.001036	T	0.38188	0.1031	L	0.61218	1.895	0.31822	N	0.625854	D	0.60575	0.988	P	0.57911	0.829	T	0.41538	-0.9503	10	0.15066	T	0.55	-11.6895	11.577	0.50866	0.1851:0.8149:0.0:0.0	.	184	A7MD48	SRRM4_HUMAN	S	184	ENSP00000267260:R184S	ENSP00000267260:R184S	R	+	1	0	SRRM4	118047603	0.952000	0.32445	0.904000	0.35570	0.958000	0.62258	1.195000	0.32186	1.314000	0.45095	0.655000	0.94253	CGC		0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		17	27	1	0	6.94e-10	8.67e-10	17	27				
COQ5	84274	broad.mit.edu	37	12	120947835	120947835	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:120947835G>C	ENST00000288532.6	-	4	706	c.666C>G	c.(664-666)gtC>gtG	p.V222V	COQ5_ENST00000445328.2_Silent_p.V148V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAATGTGTGTGACATTCCGGA	0.438																																						uc001tyn.2		NA																	0				ovary(1)	1						c.(664-666)GTC>GTG		coenzyme Q5 homolog, methyltransferase							199.0	165.0	176.0					12																	120947835		2203	4300	6503	SO:0001819	synonymous_variant	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120947835G>C	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.666C>G	12.37:g.120947835G>C						COQ5_uc001tyo.2_Silent_p.V141V|COQ5_uc010szj.1_Silent_p.V148V	p.V222V	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			4	686	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		222					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	ENST00000288532.6	37	c.666C>G	CCDS31912.1																																																																																				0.438	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		15	37	0	0	0	0	15	37				
TUBA3C	7278	broad.mit.edu	37	13	19751082	19751082	+	Nonsense_Mutation	SNP	G	G	T	rs148928584		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:19751082G>T	ENST00000400113.3	-	4	1145	c.1041C>A	c.(1039-1041)tgC>tgA	p.C347*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	347					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCCAGTTGGGCACCAATCTA	0.527																																						uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(1039-1041)TGC>TGA		tubulin, alpha 3c							96.0	84.0	88.0					13																	19751082		2203	4300	6503	SO:0001587	stop_gained	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751082G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1041C>A	13.37:g.19751082G>T	ENSP00000382982:p.Cys347*						p.C347*	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1090	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	347					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Nonsense_Mutation	SNP	ENST00000400113.3	37	c.1041C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298948	0.40694	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	.	.	.	1.21	1.21	0.21127	.	0.000000	0.53938	U	0.000057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3447	0.32266	0.0:0.0:1.0:0.0	.	.	.	.	X	347	.	ENSP00000354037:C347X	C	-	3	2	TUBA3C	18649082	1.000000	0.71417	0.960000	0.40013	0.274000	0.26718	1.150000	0.31639	0.976000	0.38417	0.184000	0.17185	TGC		0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		13	19	1	0	1.15e-07	1.37e-07	13	19				
BRCA2	675	broad.mit.edu	37	13	32907114	32907114	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:32907114G>T	ENST00000380152.3	+	10	1732	c.1499G>T	c.(1498-1500)gGt>gTt	p.G500V	BRCA2_ENST00000544455.1_Missense_Mutation_p.G500V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	500					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTTCAGGGTATCAAAAAG	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CD021790	BRCA2	D		c.(1498-1500)GGT>GTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							54.0	59.0	57.0					13																	32907114		2202	4298	6500	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907114G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1499G>T	13.37:g.32907114G>T	ENSP00000369497:p.Gly500Val	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.G377V	p.G500V	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1726	+		Lung SC(185;0.0262)	500					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1499G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300923	0.23650	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00737	5.76;5.76	5.39	1.71	0.24356	.	0.812940	0.11409	N	0.566986	T	0.02342	0.0072	L	0.54323	1.7	0.09310	N	1	P;D	0.63880	0.952;0.993	P;P	0.60949	0.621;0.881	T	0.49214	-0.8963	10	0.62326	D	0.03	.	9.1162	0.36760	0.3081:0.0:0.6919:0.0	.	500;500	P51587;A1YBP1	BRCA2_HUMAN;.	V	500;500;498	ENSP00000369497:G500V;ENSP00000439902:G500V	ENSP00000369497:G500V	G	+	2	0	BRCA2	31805114	0.000000	0.05858	0.002000	0.10522	0.119000	0.20118	0.232000	0.17891	0.356000	0.24157	-0.145000	0.13849	GGT		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		25	33	1	0	4.27e-12	5.54e-12	25	33				
FREM2	341640	broad.mit.edu	37	13	39343823	39343823	+	Missense_Mutation	SNP	G	G	T	rs201096621	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39343823G>T	ENST00000280481.7	+	4	5735	c.5519G>T	c.(5518-5520)cGg>cTg	p.R1840L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCGAGTGCGGATCCTGAGT	0.537																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(5518-5520)CGG>CTG		FRAS1-related extracellular matrix protein 2							133.0	109.0	117.0					13																	39343823		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39343823G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5519G>T	13.37:g.39343823G>T	ENSP00000280481:p.Arg1840Leu					FREM2_uc001uww.2_5'UTR	p.R1840L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	4	5828	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1840			Calx-beta 1.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5519G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086012	0.36855	.	.	ENSG00000150893	ENST00000280481	T	0.30182	1.54	5.01	2.35	0.29111	Na-Ca exchanger/integrin-beta4 (2);	0.065177	0.64402	D	0.000008	T	0.49729	0.1574	M	0.87180	2.865	0.53688	D	0.999974	D	0.59357	0.985	D	0.63033	0.91	T	0.57573	-0.7788	10	0.08837	T	0.75	.	10.1004	0.42502	0.2166:0.0:0.7834:0.0	.	1840	Q5SZK8	FREM2_HUMAN	L	1840	ENSP00000280481:R1840L	ENSP00000280481:R1840L	R	+	2	0	FREM2	38241823	1.000000	0.71417	0.070000	0.20053	0.039000	0.13416	2.449000	0.44935	0.170000	0.19704	0.591000	0.81541	CGG		0.537	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	21	1	0	2.39e-15	3.23e-15	19	21				
FREM2	341640	broad.mit.edu	37	13	39425200	39425200	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:39425200G>C	ENST00000280481.7	+	10	6913	c.6697G>C	c.(6697-6699)Ggt>Cgt	p.G2233R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2233					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCTGCAGTTGGTGAACAAAA	0.438																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6697-6699)GGT>CGT		FRAS1-related extracellular matrix protein 2							85.0	78.0	80.0					13																	39425200		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425200G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6697G>C	13.37:g.39425200G>C	ENSP00000280481:p.Gly2233Arg					FREM2_uc001uww.2_Missense_Mutation_p.G319R	p.G2233R	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	7006	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2233			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6697G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285916	0.95517	.	.	ENSG00000150893	ENST00000280481	T	0.33654	1.4	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.85	T	0.74774	-0.3551	10	0.72032	D	0.01	.	19.0583	0.93076	0.0:0.0:1.0:0.0	.	2233;2233	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	R	2233	ENSP00000280481:G2233R	ENSP00000280481:G2233R	G	+	1	0	FREM2	38323200	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	9.457000	0.97630	2.753000	0.94483	0.655000	0.94253	GGT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		16	24	0	0	0	0	16	24				
DIAPH3	81624	broad.mit.edu	37	13	60590252	60590252	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:60590252C>T	ENST00000400324.4	-	6	874	c.654G>A	c.(652-654)ggG>ggA	p.G218G	DIAPH3_ENST00000267215.4_Silent_p.G218G|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400330.1_Silent_p.G218G|DIAPH3_ENST00000400320.1_Silent_p.G172G|DIAPH3_ENST00000377908.2_Silent_p.G207G|DIAPH3_ENST00000465066.1_5'Flank|DIAPH3_ENST00000400319.1_Silent_p.G148G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	218	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G218G(1)		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)		ATAATCCAAGCCCTTCATGTC	0.313																																						uc001vht.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(652-654)GGG>GGA		diaphanous homolog 3 isoform a							65.0	57.0	60.0					13																	60590252		1808	4068	5876	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60590252C>T	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.654G>A	13.37:g.60590252C>T						DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.G207G|DIAPH3_uc010aed.1_Silent_p.G172G|DIAPH3_uc010aee.1_Silent_p.G148G|uc001vhx.2_Intron|uc001vhy.2_Intron	p.G218G	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	6	873	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	218			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.654G>A	CCDS41898.1																																																																																				0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	15	0	0	0	0	7	15				
MYO16	23026	broad.mit.edu	37	13	109318423	109318423	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr13:109318423C>A	ENST00000357550.2	+	1	193	c.152C>A	c.(151-153)gCg>gAg	p.A51E	MYO16_ENST00000356711.2_Missense_Mutation_p.A51E|MYO16_ENST00000251041.5_Missense_Mutation_p.A51E	NM_001198950.1	NP_001185879.1			myosin XVI											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)			CTGAAGCATGCGAAGAATCCG	0.483																																						uc001vqt.1		NA																	0		p.A51A(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(151-153)GCG>GAG		myosin heavy chain Myr 8							78.0	69.0	72.0					13																	109318423		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.chr13:109318423C>A		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.152C>A	13.37:g.109318423C>A	ENSP00000350160:p.Ala51Glu					MYO16_uc010agk.1_Missense_Mutation_p.A73E	p.A51E	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		2	278	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		51						Missense_Mutation	SNP	ENST00000357550.2	37	c.152C>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928781	0.18131	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52526	0.66;0.66;0.66	5.37	3.53	0.40419	.	0.203527	0.23249	U	0.050278	T	0.30386	0.0763	N	0.14661	0.345	0.41702	D	0.989402	B;B	0.28350	0.151;0.208	B;B	0.28305	0.057;0.088	T	0.07558	-1.0766	9	.	.	.	.	14.4309	0.67249	0.0:0.293:0.707:0.0	.	51;51	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	E	51	ENSP00000349145:A51E;ENSP00000350160:A51E;ENSP00000251041:A51E	.	A	+	2	0	MYO16	108116424	1.000000	0.71417	0.135000	0.22099	0.003000	0.03518	3.723000	0.54955	1.253000	0.44018	-0.171000	0.13296	GCG		0.483	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		12	12	1	0	3.07e-06	3.54e-06	12	12				
POTEG	404785	broad.mit.edu	37	14	19553682	19553682	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:19553682C>T	ENST00000409832.3	+	1	318	c.266C>T	c.(265-267)tCt>tTt	p.S89F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	89										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGACGACTCTGCTATGAAG	0.617																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(265-267)TCT>TTT		POTE ankyrin domain family, member G							63.0	83.0	76.0					14																	19553682		1968	4009	5977	SO:0001583	missense	404785							g.chr14:19553682C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.266C>T	14.37:g.19553682C>T	ENSP00000386971:p.Ser89Phe					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.S89F	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	318	+			89					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.266C>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	9.342	1.063362	0.20067	.	.	ENSG00000222036	ENST00000409832	T	0.29917	1.55	0.571	-0.567	0.11763	.	.	.	.	.	T	0.45216	0.1331	L	0.61218	1.895	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.29518	-1.0009	8	0.87932	D	0	.	.	.	.	.	89	Q6S5H5	POTEG_HUMAN	F	89	ENSP00000386971:S89F	ENSP00000386971:S89F	S	+	2	0	POTEG	18623682	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.524000	0.06222	-0.279000	0.09167	0.410000	0.27636	TCT		0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		23	531	0	0	0	0	23	531				
POTEG	404785	broad.mit.edu	37	14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:19553819G>A	ENST00000409832.3	+	1	455	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135								p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAGGTACCACGTCCGTCGAGA	0.582																																						uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)GTC>ATC		POTE ankyrin domain family, member G							117.0	129.0	125.0					14																	19553819		1793	3721	5514	SO:0001583	missense	404785							g.chr14:19553819G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.403G>A	14.37:g.19553819G>A	ENSP00000386971:p.Val135Ile					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.V135I	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	455	+			135					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.403G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	3.035	-0.198874	0.06219	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-1.35	0.09114	.	.	.	.	.	T	0.32556	0.0833	L	0.53249	1.67	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.31586	-0.9938	9	0.09590	T	0.72	.	4.3019	0.10928	0.5263:0.0:0.4737:0.0	.	135	Q6S5H5	POTEG_HUMAN	I	135	ENSP00000386971:V135I	ENSP00000386971:V135I	V	+	1	0	POTEG	18623819	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.520000	0.02241	-0.358000	0.08162	-0.481000	0.04817	GTC		0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		11	285	0	0	0	0	11	285				
FOXG1	2290	broad.mit.edu	37	14	29236541	29236541	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:29236541G>T	ENST00000313071.4	+	1	255	c.56G>T	c.(55-57)aGc>aTc	p.S19I	RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.S19I|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	19					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)		TCCTCGTTCAGCATCAACAGC	0.652																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(55-57)AGC>ATC		forkhead box G1							50.0	46.0	47.0					14																	29236541		2202	4299	6501	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.chr14:29236541G>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.56G>T	14.37:g.29236541G>T	ENSP00000339004:p.Ser19Ile						p.S19I	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	255	+			19					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.56G>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622001	0.46840	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	T;T	0.44881	0.91;0.91	1.99	1.99	0.26369	.	462.788000	0.00732	U	0.000953	T	0.34395	0.0896	L	0.36672	1.1	0.32037	N	0.598713	D	0.54964	0.969	B	0.38194	0.267	T	0.48681	-0.9014	10	0.87932	D	0	.	7.8263	0.29318	0.1455:0.0:0.8545:0.0	.	19	P55316	FOXG1_HUMAN	I	19	ENSP00000371975:S19I;ENSP00000339004:S19I	ENSP00000339004:S19I	S	+	2	0	FOXG1	28306292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.314000	0.59166	1.071000	0.40834	0.442000	0.29010	AGC		0.652	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			7	18	1	0	1.13e-05	1.28e-05	7	18				
PRKD1	5587	broad.mit.edu	37	14	30194823	30194823	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:30194823G>A	ENST00000331968.5	-	2	551	c.322C>T	c.(322-324)Cct>Tct	p.P108S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P108S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	108					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGAGGTAGGGTCATGGCGA	0.413																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(322-324)CCT>TCT		protein kinase D1							128.0	117.0	120.0					14																	30194823		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30194823G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.322C>T	14.37:g.30194823G>A	ENSP00000333568:p.Pro108Ser						p.P108S	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	2	503	-	Hepatocellular(127;0.0604)		108					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.322C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115537	0.37339	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	T;T;D	0.92805	-0.14;-0.13;-3.11	5.69	4.79	0.61399	.	0.067021	0.64402	D	0.000009	D	0.90287	0.6962	L	0.52759	1.655	0.49915	D	0.999832	B	0.29301	0.241	B	0.35607	0.206	D	0.86981	0.2104	10	0.22109	T	0.4	-8.9797	16.1337	0.81465	0.0:0.0:0.8655:0.1345	.	108	Q15139	KPCD1_HUMAN	S	108;108;31	ENSP00000333568:P108S;ENSP00000390535:P108S;ENSP00000446866:P31S	ENSP00000333568:P108S	P	-	1	0	PRKD1	29264574	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	1.556000	0.36288	1.397000	0.46682	0.561000	0.74099	CCT		0.413	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		16	45	0	0	0	0	16	45				
CLEC14A	161198	broad.mit.edu	37	14	38724494	38724494	+	Missense_Mutation	SNP	G	G	A	rs375051083		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:38724494G>A	ENST00000342213.2	-	1	1080	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	245	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCCGGGGCAGGGACACAACAC	0.617																																						uc001wum.1		NA																	0				ovary(3)|skin(1)	4						c.(733-735)CCC>CTC		C-type lectin domain family 14, member A							118.0	128.0	124.0					14																	38724494		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724494G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.734C>T	14.37:g.38724494G>A	ENSP00000353013:p.Pro245Leu						p.P245L	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1081	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		245			Extracellular (Potential).|EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.734C>T	CCDS9667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.14|13.14	2.147716|2.147716	0.37923|0.37923	.|.	.|.	ENSG00000176435|ENSG00000176435	ENST00000342213|ENST00000546356	T|.	0.75050|.	-0.9|.	3.88|3.88	3.88|3.88	0.44766|0.44766	Epidermal growth factor-like (1);|.	0.505078|0.505078	0.16537|0.16537	N|N	0.210101|0.210101	T|T	0.55641|0.55641	0.1933|0.1933	L|L	0.34521|0.34521	1.04|1.04	0.46096|0.46096	D|D	0.998863|0.998863	P|.	0.40731|.	0.728|.	B|.	0.37780|.	0.258|.	T|T	0.55823|0.55823	-0.8080|-0.8080	10|7	0.54805|0.49607	T|T	0.06|0.09	-3.7146|-3.7146	11.6305|11.6305	0.51171|0.51171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245|.	Q86T13|.	CLC14_HUMAN|.	L|S	245|11	ENSP00000353013:P245L|.	ENSP00000353013:P245L|ENSP00000443662:P11S	P|P	-|-	2|1	0|0	CLEC14A|CLEC14A	37794245|37794245	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.520000|0.520000	0.34377|0.34377	3.730000|3.730000	0.55006|0.55006	2.480000|2.480000	0.83734|0.83734	0.491000|0.491000	0.48974|0.48974	CCC|CCT		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		46	120	0	0	0	0	46	120				
PLEKHG3	26030	broad.mit.edu	37	14	65208417	65208417	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:65208417G>C	ENST00000394691.1	+	16	2329	c.2182G>C	c.(2182-2184)Gaa>Caa	p.E728Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233Q|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E672Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261Q|PLEKHG3_ENST00000492928.1_3'UTR			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	728				YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298). {ECO:0000305}.			Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAAAATGCAGAACACCATGA	0.527																																						uc001xho.1		NA																	0				skin(1)	1						c.(2182-2184)GAA>CAA		pleckstrin homology domain containing, family G,							69.0	77.0	74.0					14																	65208417		2203	4299	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208417G>C	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2182G>C	14.37:g.65208417G>C	ENSP00000378183:p.Glu728Gln					PLEKHG3_uc001xhn.1_Missense_Mutation_p.E672Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.E849Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.E270Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.E233Q	p.E728Q	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2451	+			728	YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2182G>C		.	.	.	.	.	.	.	.	.	.	G	19.16	3.774585	0.70107	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;D;T;T	0.83992	-1.32;-1.79;-0.26;-0.17	5.97	5.97	0.96955	.	0.072908	0.56097	D	0.000033	D	0.91099	0.7198	M	0.75264	2.295	0.46874	D	0.999237	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.997;0.997;0.996;0.998	D	0.89655	0.3872	10	0.42905	T	0.14	.	19.1994	0.93704	0.0:0.0:1.0:0.0	.	261;233;728;672	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	672;728;261;233	ENSP00000247226:E672Q;ENSP00000378183:E728Q;ENSP00000450945:E261Q;ENSP00000450973:E233Q	ENSP00000247226:E672Q	E	+	1	0	PLEKHG3	64278170	1.000000	0.71417	0.968000	0.41197	0.358000	0.29455	9.074000	0.93998	2.837000	0.97791	0.655000	0.94253	GAA		0.527	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		22	84	0	0	0	0	22	84				
ZFYVE26	23503	broad.mit.edu	37	14	68274302	68274302	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:68274302C>A	ENST00000347230.4	-	5	837	c.699G>T	c.(697-699)ggG>ggT	p.G233G	ZFYVE26_ENST00000555452.1_Silent_p.G233G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	233					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)		GCAACTCAACCCCAAGTGGTT	0.637																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(697-699)GGG>GGT		zinc finger, FYVE domain containing 26							47.0	46.0	46.0					14																	68274302		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:68274302C>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.699G>T	14.37:g.68274302C>A						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.G233G|ZFYVE26_uc010tta.1_Silent_p.G233G	p.G233G	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)	5	838	-			233					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.699G>T	CCDS9788.1																																																																																				0.637	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		16	31	1	0	2.32e-05	2.59e-05	16	31				
CYP46A1	10858	broad.mit.edu	37	14	100172989	100172989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:100172989T>A	ENST00000261835.3	+	6	553	c.449T>A	c.(448-450)tTg>tAg	p.L150*	CYP46A1_ENST00000554176.1_5'UTR|CYP46A1_ENST00000423126.2_Nonsense_Mutation_p.L53*	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	150					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCCAGCTCCTTGGTTAGCTTA	0.547																																						uc001ygo.2		NA																	0					0						c.(448-450)TTG>TAG		cytochrome P450, family 46							91.0	85.0	87.0					14																	100172989		2203	4300	6503	SO:0001587	stop_gained	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100172989T>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.449T>A	14.37:g.100172989T>A	ENSP00000261835:p.Leu150*					CYP46A1_uc001ygn.1_Nonsense_Mutation_p.L112*|CYP46A1_uc001ygp.2_5'UTR	p.L150*	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			6	449	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	150					B4DHP8|E7EQG9|Q8N2B0	Nonsense_Mutation	SNP	ENST00000261835.3	37	c.449T>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	T	36	5.676245	0.96764	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	.	.	.	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2072	0.43120	0.0:0.0:0.0:1.0	.	.	.	.	X	150;53	.	ENSP00000261835:L150X	L	+	2	0	CYP46A1	99242742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.136000	0.58004	1.830000	0.53286	0.528000	0.53228	TTG		0.547	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			22	44	0	0	0	0	22	44				
AHNAK2	113146	broad.mit.edu	37	14	105411241	105411241	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr14:105411241A>C	ENST00000333244.5	-	7	10666	c.10547T>G	c.(10546-10548)cTc>cGc	p.L3516R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3516						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTGGCCTTGAGGTCCCCCTG	0.667																																						uc010axc.1		NA																	0				ovary(1)	1						c.(10546-10548)CTC>CGC		AHNAK nucleoprotein 2							116.0	127.0	124.0					14																	105411241		1942	4119	6061	SO:0001583	missense	113146					nucleus		g.chr14:105411241A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10547T>G	14.37:g.105411241A>C	ENSP00000353114:p.Leu3516Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.L3416R	p.L3516R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10667	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3516					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10547T>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	16.16	3.043683	0.55003	.	.	ENSG00000185567	ENST00000333244	T	0.01516	4.81	4.08	1.61	0.23674	.	.	.	.	.	T	0.09512	0.0234	M	0.90198	3.095	0.09310	N	1	D	0.69078	0.997	D	0.65010	0.931	T	0.10497	-1.0627	9	0.62326	D	0.03	.	5.6753	0.17745	0.7344:0.1708:0.0948:0.0	.	3516	Q8IVF2	AHNK2_HUMAN	R	3516	ENSP00000353114:L3516R	ENSP00000353114:L3516R	L	-	2	0	AHNAK2	104482286	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.602000	0.36783	0.029000	0.15352	0.172000	0.16884	CTC		0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		49	125	0	0	0	0	49	125				
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Missense_Mutation	SNP	G	G	T	rs570771230	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22369024G>T	ENST00000332663.2	+	1	547	c.449G>T	c.(448-450)aGg>aTg	p.R150M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		CTCTCCTGGAGGGGGGGCTTC	0.502																																						uc010tzu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(448-450)AGG>ATG		olfactory receptor, family 4, subfamily M,							308.0	265.0	280.0					15																	22369024		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369024G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.449G>T	15.37:g.22369024G>T	ENSP00000329467:p.Arg150Met					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R150M	NM_001004719	NP_001004719	Q8NGB6	OR4M2_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)	1	449	+		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)	150			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.449G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.305068	0.01353	.	.	ENSG00000182974	ENST00000332663	T	0.36340	1.26	2.5	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	1.194180	0.05949	N	0.638345	T	0.10852	0.0265	N	0.00566	-1.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.29301	T	0.29	0.3727	3.5572	0.07869	0.0:0.1461:0.2289:0.625	.	150	Q8NGB6	OR4M2_HUMAN	M	150	ENSP00000329467:R150M	ENSP00000329467:R150M	R	+	2	0	OR4M2	19870388	0.000000	0.05858	0.923000	0.36655	0.215000	0.24574	0.156000	0.16382	-0.122000	0.11766	-0.598000	0.04106	AGG		0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			49	313	1	0	1.75e-23	2.47e-23	49	313				
OR4N4	283694	broad.mit.edu	37	15	22382647	22382647	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22382647C>T	ENST00000328795.4	+	1	266	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	59						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)		CACAGCCCCCCTCTATTTATT	0.453																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(175-177)CTC>TTC		olfactory receptor, family 4, subfamily N,							132.0	136.0	135.0					15																	22382647		2200	4293	6493	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382647C>T	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.175C>T	15.37:g.22382647C>T	ENSP00000332500:p.Leu59Phe					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L59F	p.L59F	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	1156	+		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)	59			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.175C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.088750	0.36855	.	.	ENSG00000183706	ENST00000328795	T	0.03386	3.95	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000642	T	0.04679	0.0127	N	0.20986	0.625	0.29677	N	0.841975	P	0.48640	0.913	P	0.50352	0.638	T	0.08554	-1.0716	10	0.87932	D	0	-18.2579	7.8672	0.29543	0.2472:0.7528:0.0:0.0	.	59	Q8N0Y3	OR4N4_HUMAN	F	59	ENSP00000332500:L59F	ENSP00000332500:L59F	L	+	1	0	OR4N4	19884011	1.000000	0.71417	0.988000	0.46212	0.236000	0.25371	5.640000	0.67875	1.798000	0.52647	0.195000	0.17529	CTC		0.453	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			48	141	0	0	0	0	48	141				
OR4N4	283694	broad.mit.edu	37	15	22382715	22382715	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22382715G>A	ENST00000328795.4	+	1	334	c.243G>A	c.(241-243)atG>atA	p.M81I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	81						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)		CTCCCAGGATGTTGGTGGACT	0.517																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(241-243)ATG>ATA		olfactory receptor, family 4, subfamily N,							133.0	126.0	129.0					15																	22382715		2203	4300	6503	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382715G>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.243G>A	15.37:g.22382715G>A	ENSP00000332500:p.Met81Ile					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.M81I	p.M81I	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	1224	+		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)	81			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.243G>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	9.455	1.091638	0.20471	.	.	ENSG00000183706	ENST00000328795	T	0.05513	3.43	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.10981	0.0268	L	0.45698	1.435	0.28011	N	0.934912	P	0.51933	0.949	P	0.50490	0.642	T	0.02251	-1.1188	10	0.66056	D	0.02	-21.3465	12.2756	0.54733	0.0:0.0:1.0:0.0	.	81	Q8N0Y3	OR4N4_HUMAN	I	81	ENSP00000332500:M81I	ENSP00000332500:M81I	M	+	3	0	OR4N4	19884079	0.001000	0.12720	1.000000	0.80357	0.063000	0.16089	-0.014000	0.12656	1.793000	0.52555	0.184000	0.17185	ATG		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			28	121	0	0	0	0	28	121				
OR4N4	283694	broad.mit.edu	37	15	22383416	22383416	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:22383416G>T	ENST00000328795.4	+	1	1035	c.944G>T	c.(943-945)aGa>aTa	p.R315I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	315						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)		TTTATAATAAGAAACTGAGAA	0.388																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(943-945)AGA>ATA		olfactory receptor, family 4, subfamily N,							29.0	28.0	28.0					15																	22383416		2119	4209	6328	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383416G>T	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.944G>T	15.37:g.22383416G>T	ENSP00000332500:p.Arg315Ile					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.R315I	p.R315I	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	1925	+		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)	315			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.944G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.371637	0.24771	.	.	ENSG00000183706	ENST00000328795	T	0.00003	9.82	2.76	-0.576	0.11731	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	9	0.72032	D	0.01	.	1.2276	0.01937	0.144:0.2195:0.4123:0.2242	.	315	Q8N0Y3	OR4N4_HUMAN	I	315	ENSP00000332500:R315I	ENSP00000332500:R315I	R	+	2	0	OR4N4	19884780	0.026000	0.19158	0.000000	0.03702	0.117000	0.20001	0.347000	0.20014	-0.271000	0.09272	0.399000	0.26434	AGA		0.388	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			11	21	1	0	6.4e-05	7.08e-05	11	21				
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:23890799G>T	ENST00000532292.1	-	1	376	c.282C>A	c.(280-282)ccC>ccA	p.P94P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652																																						uc001ywj.3		NA																	0					0						c.(280-282)CCC>CCA		MAGE-like protein 2							9.0	11.0	10.0					15																	23890799		1859	4080	5939	SO:0001819	synonymous_variant	54551							g.chr15:23890799G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.282C>A	15.37:g.23890799G>T							p.P94P	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	377	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.282C>A		.	.	.	.	.	.	.	.	.	.	g	0.056	-1.235388	0.01505	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.66	-7.3	0.01446	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.22446	N	0.999096	.	.	.	.	.	.	T	0.38628	-0.9652	5	0.62326	D	0.03	.	2.276	0.04103	0.239:0.1035:0.1362:0.5213	.	.	.	.	Q	126	.	ENSP00000433433:P126Q	P	-	2	0	MAGEL2	21441892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.383000	0.01063	-1.781000	0.01277	-1.365000	0.01206	CCG		0.652	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		3	8	1	0	0.004672	0.0049279	3	8				
GABRA5	2558	broad.mit.edu	37	15	27160007	27160007	+	Missense_Mutation	SNP	C	C	G	rs140643363	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:27160007C>G	ENST00000335625.5	+	7	1443	c.555C>G	c.(553-555)caC>caG	p.H185Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.H185Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.H185Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	185					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	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)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGGATGCGCACGCTTGCCCTC	0.433																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(553-555)CAC>CAG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						70.0	71.0	71.0					15																	27160007		1956	4167	6123	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27160007C>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.555C>G	15.37:g.27160007C>G	ENSP00000335592:p.His185Gln					GABRB3_uc001zbb.2_Intron	p.H185Q	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	8	894	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	185			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.555C>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712715	0.68730	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.57	-2.48	0.06423	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	N	0.04162	-0.26	0.51233	D	0.999916	D	0.57571	0.98	D	0.65323	0.934	T	0.56529	-0.7964	10	0.13853	T	0.58	.	14.0409	0.64674	0.0:0.7291:0.0:0.2709	.	185	P31644	GBRA5_HUMAN	Q	185;185;153;185	ENSP00000335592:H185Q;ENSP00000347557:H185Q;ENSP00000450653:H153Q;ENSP00000382953:H185Q	ENSP00000335592:H185Q	H	+	3	2	GABRA5	24742753	0.180000	0.23148	0.982000	0.44146	0.971000	0.66376	-0.639000	0.05446	-0.442000	0.07190	0.655000	0.94253	CAC		0.433	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			17	18	0	0	0	0	17	18				
NUTM1	256646	broad.mit.edu	37	15	34640812	34640812	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:34640812A>T	ENST00000333756.4	+	2	814	c.659A>T	c.(658-660)tAc>tTc	p.Y220F	NUTM1_ENST00000537011.1_Missense_Mutation_p.Y248F|NUTM1_ENST00000438749.3_Missense_Mutation_p.Y238F	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	220						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCAGCGTTACAAAGCCTTG	0.512																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(658-660)TAC>TTC		nuclear protein in testis							61.0	64.0	63.0					15																	34640812		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640812A>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.659A>T	15.37:g.34640812A>T	ENSP00000329448:p.Tyr220Phe					C15orf55_uc010ucc.1_Missense_Mutation_p.Y248F|C15orf55_uc010ucd.1_Missense_Mutation_p.Y238F	p.Y220F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	814	+		all_lung(180;2.78e-08)	220					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.659A>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961259	0.53400	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.26067	1.76;1.76;1.76	5.69	4.54	0.55810	Nuclear Testis  protein, N-terminal (1);	0.110433	0.41194	N	0.000921	T	0.38401	0.1039	L	0.45422	1.42	0.33172	D	0.548371	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.87578	0.998;0.996;0.788	T	0.46789	-0.9166	10	0.25751	T	0.34	.	9.8064	0.40795	0.8466:0.0:0.0:0.1534	.	238;248;220	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	F	248;238;220;220	ENSP00000444896:Y248F;ENSP00000407031:Y238F;ENSP00000329448:Y220F	ENSP00000329448:Y220F	Y	+	2	0	C15orf55	32428104	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.151000	0.64875	0.936000	0.37367	0.533000	0.62120	TAC		0.512	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		33	33	0	0	0	0	33	33				
MAP1A	4130	broad.mit.edu	37	15	43821049	43821049	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:43821049T>A	ENST00000300231.5	+	4	7828	c.7378T>A	c.(7378-7380)Tcc>Acc	p.S2460T	MAP1A_ENST00000382031.1_Missense_Mutation_p.S2698T|MAP1A_ENST00000399453.1_Missense_Mutation_p.S2460T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2460					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTGCCCCCATCCATAGATGA	0.662																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(7378-7380)TCC>ACC		microtubule-associated protein 1A	Estramustine(DB01196)						35.0	38.0	37.0					15																	43821049		1909	4126	6035	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821049T>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7378T>A	15.37:g.43821049T>A	ENSP00000300231:p.Ser2460Thr						p.S2460T	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	7845	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2460					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7378T>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	1.173	-0.640279	0.03557	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01430	4.9;4.9;4.9	4.63	-1.12	0.09808	.	.	.	.	.	T	0.01029	0.0034	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49661	-0.8916	9	0.17832	T	0.49	-1.1948	0.5548	0.00669	0.2645:0.1672:0.136:0.4324	.	2460	P78559	MAP1A_HUMAN	T	2698;2460;2460	ENSP00000371462:S2698T;ENSP00000382380:S2460T;ENSP00000300231:S2460T	ENSP00000300231:S2460T	S	+	1	0	MAP1A	41608341	0.000000	0.05858	0.001000	0.08648	0.427000	0.31564	0.634000	0.24614	-0.029000	0.13827	0.379000	0.24179	TCC		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		25	16	0	0	0	0	25	16				
MYO5C	55930	broad.mit.edu	37	15	52532055	52532055	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:52532055C>A	ENST00000261839.7	-	21	2739	c.2578G>T	c.(2578-2580)Gtg>Ttg	p.V860L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	860	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTAGGATCACAGCCTTATGT	0.463																																						uc010bff.2		NA																	0				ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(2578-2580)GTG>TTG		myosin VC							55.0	55.0	55.0					15																	52532055		1961	4147	6108	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52532055C>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2578G>T	15.37:g.52532055C>A	ENSP00000261839:p.Val860Leu					MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_Intron	p.V860L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	21	2715	-			860			IQ 5.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.2578G>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935785	0.34189	.	.	ENSG00000128833	ENST00000261839	T	0.27256	1.68	5.43	2.48	0.30137	.	0.237852	0.37053	N	0.002276	T	0.13543	0.0328	N	0.17922	0.545	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.08229	-1.0732	10	0.28530	T	0.3	.	6.3133	0.21176	0.3754:0.5047:0.0:0.1199	.	860	Q9NQX4	MYO5C_HUMAN	L	860	ENSP00000261839:V860L	ENSP00000261839:V860L	V	-	1	0	MYO5C	50319347	0.018000	0.18449	0.991000	0.47740	0.901000	0.52897	0.206000	0.17375	1.277000	0.44412	0.650000	0.86243	GTG		0.463	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		15	23	1	0	1.05e-09	1.31e-09	15	23				
DENND4A	10260	broad.mit.edu	37	15	66007893	66007893	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:66007893T>A	ENST00000431932.2	-	14	2084	c.1876A>T	c.(1876-1878)Att>Ttt	p.I626F	DENND4A_ENST00000443035.3_Missense_Mutation_p.I626F	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	626	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGAAGCGAATAAACATTTGT	0.328																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1876-1878)ATT>TTT		DENN/MADD domain containing 4A isoform 2							79.0	72.0	75.0					15																	66007893		1829	4085	5914	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66007893T>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1876A>T	15.37:g.66007893T>A	ENSP00000396830:p.Ile626Phe					DENND4A_uc002api.2_Missense_Mutation_p.I626F|DENND4A_uc002apj.3_Missense_Mutation_p.I626F|DENND4A_uc010ujj.1_Missense_Mutation_p.I626F	p.I626F	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			14	2254	-			626			dDENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1876A>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035502	0.93630	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.44083	0.93;0.93	5.41	5.41	0.78517	dDENN (3);	0.096495	0.64402	D	0.000001	T	0.64638	0.2616	M	0.73962	2.25	0.80722	D	1	P;D;D	0.76494	0.907;0.999;0.999	P;D;D	0.74674	0.905;0.984;0.977	T	0.68762	-0.5323	10	0.66056	D	0.02	.	15.431	0.75099	0.0:0.0:0.0:1.0	.	626;626;626	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	F	626	ENSP00000391167:I626F;ENSP00000396830:I626F	ENSP00000396830:I626F	I	-	1	0	DENND4A	63794947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.037000	0.60232	0.482000	0.46254	ATT		0.328	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		7	21	0	0	0	0	7	21				
IQCH	64799	broad.mit.edu	37	15	67757467	67757467	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:67757467G>T	ENST00000335894.4	+	17	2574	c.2508G>T	c.(2506-2508)gtG>gtT	p.V836V	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Silent_p.V497V|IQCH_ENST00000358767.3_Silent_p.V572V|IQCH_ENST00000546225.1_Silent_p.V493V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTAATCAGGTGTGGGCAACCG	0.517																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(2506-2508)GTG>GTT		IQ motif containing H isoform 1							83.0	73.0	76.0					15																	67757467		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67757467G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2508G>T	15.37:g.67757467G>T						IQCH_uc002aqq.1_Silent_p.V493V|IQCH_uc002aqp.1_Silent_p.V497V|uc002aqr.1_Intron	p.V836V	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	17	2555	+			836					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.2508G>T	CCDS32273.1																																																																																				0.517	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		21	43	1	0	9.58e-11	1.22e-10	21	43				
TBC1D21	161514	broad.mit.edu	37	15	74178505	74178505	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:74178505T>A	ENST00000300504.2	+	7	749	c.666T>A	c.(664-666)gcT>gcA	p.A222A	TBC1D21_ENST00000562056.1_Silent_p.A185A|TBC1D21_ENST00000535547.2_Silent_p.A186A	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	222	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCGTGTTTGCTGAGCACCTAA	0.592																																						uc002avz.2		NA																	0		p.A222P(1)		ovary(2)	2						c.(664-666)GCT>GCA		TBC1 domain family, member 21							185.0	127.0	147.0					15																	74178505		2198	4297	6495	SO:0001819	synonymous_variant	161514					intracellular	Rab GTPase activator activity	g.chr15:74178505T>A	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.666T>A	15.37:g.74178505T>A						TBC1D21_uc010ulc.1_Silent_p.A186A	p.A222A	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			7	749	+			222			Rab-GAP TBC.		B9A6M2	Silent	SNP	ENST00000300504.2	37	c.666T>A	CCDS10252.1																																																																																				0.592	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		15	35	0	0	0	0	15	35				
ACSBG1	23205	broad.mit.edu	37	15	78474423	78474423	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:78474423T>C	ENST00000258873.4	-	8	1164	c.959A>G	c.(958-960)gAg>gGg	p.E320G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E78G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E78G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	320					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GACTACCACCTCCTGCTGGAC	0.627																																						uc002bdh.2		NA																	0				ovary(1)	1						c.(958-960)GAG>GGG		lipidosin							66.0	60.0	62.0					15																	78474423		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474423T>C	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.959A>G	15.37:g.78474423T>C	ENSP00000258873:p.Glu320Gly					ACSBG1_uc010umw.1_Missense_Mutation_p.E316G|ACSBG1_uc010umx.1_Missense_Mutation_p.E78G|ACSBG1_uc010umy.1_Missense_Mutation_p.E213G	p.E320G	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			8	1015	-			320					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.959A>G	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959890	0.74016	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.11169	2.8;2.8	4.99	4.99	0.66335	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.59912	1.85	0.58432	D	0.999994	P;B	0.50369	0.934;0.025	P;B	0.55965	0.788;0.075	T	0.00563	-1.1669	10	0.62326	D	0.03	-35.8844	13.9506	0.64113	0.0:0.0:0.0:1.0	.	316;320	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	G	320;78	ENSP00000258873:E320G;ENSP00000439955:E78G	ENSP00000258873:E320G	E	-	2	0	ACSBG1	76261478	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.223000	0.72257	1.896000	0.54893	0.529000	0.55759	GAG		0.627	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		21	32	0	0	0	0	21	32				
IL16	3603	broad.mit.edu	37	15	81517813	81517813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81517813C>T	ENST00000302987.4	+	1	73	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	IL16_ENST00000394660.2_Missense_Mutation_p.L25F			Q14005	IL16_HUMAN	interleukin 16	25					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						GTCCCTGATGCTCTGTAATGC	0.498																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(73-75)CTC>TTC		interleukin 16 isoform 2							80.0	82.0	81.0					15																	81517813		2012	4186	6198	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.chr15:81517813C>T	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.73C>T	15.37:g.81517813C>T	ENSP00000302935:p.Leu25Phe					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.L25F|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L67F|IL16_uc002bgg.2_Missense_Mutation_p.L25F	p.L25F	NM_172217	NP_757366	Q14005	IL16_HUMAN			2	449	+			25					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.73C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680043	0.47886	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.20738	2.06;2.05	4.18	4.18	0.49190	.	0.000000	0.34777	N	0.003698	T	0.46619	0.1402	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.52480	-0.8570	10	0.72032	D	0.01	.	16.6985	0.85342	0.0:1.0:0.0:0.0	.	25;25	Q14005;Q14005-2	IL16_HUMAN;.	F	25;67;25;25	ENSP00000378155:L25F;ENSP00000302935:L25F	ENSP00000302935:L25F	L	+	1	0	IL16	79304868	0.999000	0.42202	1.000000	0.80357	0.134000	0.20937	2.586000	0.46119	2.155000	0.67459	0.563000	0.77884	CTC		0.498	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		19	50	0	0	0	0	19	50				
TMC3	342125	broad.mit.edu	37	15	81625263	81625263	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:81625263G>T	ENST00000359440.5	-	22	2935	c.2800C>A	c.(2800-2802)Cgc>Agc	p.R934S	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R935S|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.R938S(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAGGCTGGCGGGGGACCCGG	0.552																																						uc002bgo.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|liver(1)	2						c.(2800-2802)CGC>AGC		transmembrane channel-like 3							36.0	39.0	38.0					15																	81625263		1943	4113	6056	SO:0001583	missense	342125					integral to membrane		g.chr15:81625263G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2800C>A	15.37:g.81625263G>T	ENSP00000352413:p.Arg934Ser					TMC3_uc010blr.1_RNA	p.R934S	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	2800	-			934			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2800C>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825895	0.32237	.	.	ENSG00000188869	ENST00000359440	T	0.63580	-0.05	4.94	3.04	0.35103	.	1.218680	0.06653	U	0.763174	T	0.52289	0.1725	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.17722	0.019	T	0.43782	-0.9370	10	0.48119	T	0.1	0.504	9.8318	0.40946	0.0737:0.0:0.7874:0.1389	.	934	Q7Z5M5	TMC3_HUMAN	S	934	ENSP00000352413:R934S	ENSP00000352413:R934S	R	-	1	0	TMC3	79412318	0.979000	0.34478	0.000000	0.03702	0.004000	0.04260	4.428000	0.59894	0.486000	0.27676	0.655000	0.94253	CGC		0.552	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		13	44	1	0	9.05e-12	1.17e-11	13	44				
ADAMTSL3	57188	broad.mit.edu	37	15	84657464	84657464	+	Silent	SNP	G	G	T	rs141705388		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:84657464G>T	ENST00000286744.5	+	22	3962	c.3738G>T	c.(3736-3738)ggG>ggT	p.G1246G	ADAMTSL3_ENST00000567476.1_Silent_p.G1246G|AC027807.1_ENST00000408557.1_RNA	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1246	Ig-like C2-type 2.					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)			ATGGAACTGGGAAGATACAGA	0.373																																						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.(3736-3738)GGG>GGT		ADAMTS-like 3 precursor							119.0	115.0	116.0					15																	84657464		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84657464G>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.3738G>T	15.37:g.84657464G>T						ADAMTSL3_uc010bmt.1_Silent_p.G1246G|ADAMTSL3_uc010bmu.1_Silent_p.G1246G	p.G1246G	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		22	3962	+			1246			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.3738G>T	CCDS10326.1																																																																																				0.373	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		8	39	1	0	5.18e-06	5.92e-06	8	39				
ZNF592	9640	broad.mit.edu	37	15	85326315	85326315	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:85326315A>C	ENST00000560079.2	+	4	697	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	ZNF592_ENST00000299927.3_Missense_Mutation_p.T137P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	137					cell death (GO:0008219)|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)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCATTACCCACCTTCAACCA	0.478																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(409-411)ACC>CCC		zinc finger protein 592							99.0	105.0	103.0					15																	85326315		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326315A>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.409A>C	15.37:g.85326315A>C	ENSP00000452877:p.Thr137Pro					ZNF592_uc010upb.1_RNA	p.T137P	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	745	+			137					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.409A>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196504	0.58126	.	.	ENSG00000166716	ENST00000299927	T	0.00640	6.03	6.06	6.06	0.98353	.	0.249606	0.46145	D	0.000302	T	0.02156	0.0067	L	0.48642	1.525	0.43852	D	0.99644	D	0.65815	0.995	D	0.63381	0.914	T	0.64580	-0.6374	10	0.72032	D	0.01	-20.196	14.5614	0.68140	1.0:0.0:0.0:0.0	.	137	Q92610	ZN592_HUMAN	P	137	ENSP00000299927:T137P	ENSP00000299927:T137P	T	+	1	0	ZNF592	83127319	0.986000	0.35501	0.998000	0.56505	0.999000	0.98932	3.000000	0.49481	2.324000	0.78689	0.533000	0.62120	ACC		0.478	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		49	91	0	0	0	0	49	91				
AGBL1	123624	broad.mit.edu	37	15	86790944	86790944	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:86790944G>C	ENST00000441037.2	+	6	526	c.431G>C	c.(430-432)aGc>aCc	p.S144T	AGBL1_ENST00000421325.2_Missense_Mutation_p.S144T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	144					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						TACGTCACCAGCCTGCTCGGG	0.612																																						uc002blz.1		NA																	0					0						c.(430-432)AGC>ACC		ATP/GTP binding protein-like 1							26.0	28.0	27.0					15																	86790944		2140	4255	6395	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86790944G>C	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.431G>C	15.37:g.86790944G>C	ENSP00000413001:p.Ser144Thr						p.S144T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			6	511	+			144					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.431G>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236824	0.05944	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.29655	1.56	5.16	3.24	0.37175	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.21145	0.0509	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.29119	-1.0022	9	0.19147	T	0.46	-1.6165	5.1672	0.15092	0.08:0.1448:0.6253:0.1499	.	144	Q96MI9	CBPC4_HUMAN	T	173;144	ENSP00000397173:S144T	ENSP00000397173:S144T	S	+	2	0	AGBL1	84591948	0.001000	0.12720	0.238000	0.24106	0.741000	0.42261	0.812000	0.27211	0.535000	0.28714	0.561000	0.74099	AGC		0.612	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		12	11	0	0	0	0	12	11				
PEX11A	8800	broad.mit.edu	37	15	90227164	90227164	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:90227164T>C	ENST00000300056.3	-	3	337	c.188A>G	c.(187-189)aAt>aGt	p.N63S	PEX11A_ENST00000561257.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_Silent_p.Q24Q	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	63					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTACCACATTGCCTAGTCT	0.448																																						uc002boi.2		NA																	0					0						c.(187-189)AAT>AGT		peroxisomal biogenesis factor 11 alpha							73.0	71.0	72.0					15																	90227164		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90227164T>C	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.188A>G	15.37:g.90227164T>C	ENSP00000300056:p.Asn63Ser					PEX11A_uc010upy.1_RNA	p.N63S	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	283	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		63			Cytoplasmic (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.188A>G	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575814	0.65878	.	.	ENSG00000166821	ENST00000300056	T	0.47177	0.85	5.94	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.80183	2.485	0.80722	D	1	P	0.52692	0.955	P	0.54706	0.759	T	0.67337	-0.5696	10	0.62326	D	0.03	-21.7187	12.6186	0.56590	0.0:0.0:0.1385:0.8614	.	63	O75192	PX11A_HUMAN	S	63	ENSP00000300056:N63S	ENSP00000300056:N63S	N	-	2	0	PEX11A	88028168	1.000000	0.71417	0.792000	0.32020	0.780000	0.44128	7.536000	0.82023	1.045000	0.40225	-0.332000	0.08345	AAT		0.448	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		23	48	0	0	0	0	23	48				
NR2F2	7026	broad.mit.edu	37	15	96875646	96875646	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr15:96875646G>C	ENST00000394166.3	+	1	1701	c.312G>C	c.(310-312)aaG>aaC	p.K104N	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	104					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTTCTTCAAGCGCAGCGTGC	0.612																																						uc010uri.1		NA																	0				ovary(2)|breast(1)	3						c.(310-312)AAG>AAC		nuclear receptor subfamily 2, group F, member 2							70.0	57.0	62.0					15																	96875646		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875646G>C	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.312G>C	15.37:g.96875646G>C	ENSP00000377721:p.Lys104Asn					NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank	p.K104N	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1536	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		104			Nuclear receptor.		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.312G>C	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648940	0.67358	.	.	ENSG00000185551	ENST00000394166	D	0.96913	-4.17	4.61	3.69	0.42338	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.541351	0.15748	N	0.246565	D	0.98469	0.9490	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	11.2443	0.48987	0.0908:0.0:0.9092:0.0	.	104	P24468	COT2_HUMAN	N	104	ENSP00000377721:K104N	ENSP00000377721:K104N	K	+	3	2	NR2F2	94676650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.245000	0.51407	0.920000	0.36970	0.462000	0.41574	AAG		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	28	0	0	0	0	8	28				
CREBBP	1387	broad.mit.edu	37	16	3781465	3781465	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:3781465C>A	ENST00000262367.5	-	30	5709	c.4900G>T	c.(4900-4902)Gtg>Ttg	p.V1634L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1596L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1634	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)		AGGTGGATCACGAAGAAGACC	0.642			"""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.(4900-4902)GTG>TTG		CREB binding protein isoform a																																				SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			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.chr16:3781465C>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.4900G>T	16.37:g.3781465C>A	ENSP00000262367:p.Val1634Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.V1596L	p.V1634L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5104	-		Ovarian(90;0.0266)	1634			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4900G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.93	3.509651	0.64522	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93189	-3.18;-3.18	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	D	0.97198	0.9084	M	0.84511	2.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.97011	0.9736	10	0.62326	D	0.03	-23.1009	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1664;1634	Q4LE28;Q92793	.;CBP_HUMAN	L	1634;1664;1596;169	ENSP00000262367:V1634L;ENSP00000371502:V1596L	ENSP00000262367:V1634L	V	-	1	0	CREBBP	3721466	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GTG		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	1	1	0	0.00198382	0.00211565	6	1				
RBFOX1	54715	broad.mit.edu	37	16	7629790	7629790	+	Silent	SNP	C	C	T	rs145861898	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:7629790C>T	ENST00000550418.1	+	6	1270	c.282C>T	c.(280-282)gaC>gaT	p.D94D	RBFOX1_ENST00000553186.1_Silent_p.D94D|RBFOX1_ENST00000436368.2_Silent_p.D114D|RBFOX1_ENST00000547372.1_Silent_p.D137D|RBFOX1_ENST00000422070.4_Silent_p.D137D|RBFOX1_ENST00000311745.5_Silent_p.D114D|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Silent_p.D94D|RBFOX1_ENST00000355637.4_Silent_p.D114D|RBFOX1_ENST00000552089.1_Silent_p.D129D|RBFOX1_ENST00000340209.4_Silent_p.D99D	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	94					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						AGACAGATGACGCAGCACCGA	0.517													C|||	6	0.00119808	0.0	0.0014	5008	,	,		16875	0.0		0.0	False		,,,				2504	0.0051				Ovarian(157;934 2567 15163 39509)	uc002cys.2		NA																	0					0						c.(280-282)GAC>GAT		ataxin 2-binding protein 1 isoform 4		C	,,,,,	3,4391	6.2+/-15.9	0,3,2194	126.0	119.0	121.0		282,282,282,342,342,342	-4.4	0.4	16	dbSNP_134	121	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	,,,,,	0,31,6466	TT,TC,CC		0.3256,0.0683,0.2386	,,,,,	94/371,94/398,94/398,114/419,114/393,114/396	7629790	31,12963	2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629790C>T	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.282C>T	16.37:g.7629790C>T						A2BP1_uc010buf.1_Silent_p.D94D|A2BP1_uc002cyr.1_Silent_p.D93D|A2BP1_uc002cyt.2_Silent_p.D94D|A2BP1_uc010uxz.1_Silent_p.D137D|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.D94D|A2BP1_uc010uyb.1_Silent_p.D94D|A2BP1_uc002cyw.2_Silent_p.D114D|A2BP1_uc002cyy.2_Silent_p.D114D|A2BP1_uc002cyx.2_Silent_p.D114D|A2BP1_uc010uyc.1_Silent_p.D114D	p.D94D	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)	6	1270	+		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)	94					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.282C>T	CCDS55983.1																																																																																				0.517	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		40	56	0	0	0	0	40	56				
METTL22	79091	broad.mit.edu	37	16	8736032	8736032	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:8736032A>G	ENST00000381920.3	+	8	1133	c.875A>G	c.(874-876)tAc>tGc	p.Y292C	METTL22_ENST00000561758.1_Missense_Mutation_p.Y236C|METTL22_ENST00000568967.1_3'UTR	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	292						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						TCTGACTTGTACGATCACACC	0.478																																						uc002cyz.2		NA																	0					0						c.(874-876)TAC>TGC		hypothetical protein LOC79091							122.0	119.0	120.0					16																	8736032		1962	4153	6115	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8736032A>G	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.875A>G	16.37:g.8736032A>G	ENSP00000371345:p.Tyr292Cys					C16orf68_uc002cza.2_Missense_Mutation_p.Y236C	p.Y292C	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN			8	1151	+			292					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.875A>G	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663876	0.29515	.	.	ENSG00000067365	ENST00000381920	T	0.42900	0.96	4.89	3.8	0.43715	.	0.147583	0.46758	D	0.000276	T	0.57315	0.2045	M	0.70595	2.14	0.40378	D	0.979413	D;D	0.89917	0.997;1.0	P;D	0.71656	0.891;0.974	T	0.56780	-0.7922	10	0.48119	T	0.1	-33.438	7.2732	0.26268	0.8989:0.0:0.1011:0.0	.	67;292	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	C	292	ENSP00000371345:Y292C	ENSP00000371345:Y292C	Y	+	2	0	METTL22	8643533	1.000000	0.71417	0.205000	0.23548	0.037000	0.13140	5.105000	0.64591	0.723000	0.32274	-0.250000	0.11733	TAC		0.478	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		16	59	0	0	0	0	16	59				
CLN3	1201	broad.mit.edu	37	16	28493805	28493805	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:28493805T>A	ENST00000569430.1	-	13	1718	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	CLN3_ENST00000567963.1_Missense_Mutation_p.Q300L|CLN3_ENST00000357806.7_Missense_Mutation_p.Q201L|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.Q300L|CLN3_ENST00000535392.1_Missense_Mutation_p.Q222L|CLN3_ENST00000395653.4_Missense_Mutation_p.Q200L|CLN3_ENST00000355477.5_Missense_Mutation_p.Q252L|CLN3_ENST00000357076.5_Missense_Mutation_p.Q190L|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000568224.1_Missense_Mutation_p.Q222L|CLN3_ENST00000357857.9_Missense_Mutation_p.Q246L|CLN3_ENST00000360019.2_Missense_Mutation_p.Q300L|CLN3_ENST00000333496.9_Missense_Mutation_p.Q276L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	300					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TACAAGTCCCTGGTTAATGAA	0.547																																						uc002dpo.2		NA																	0					0						c.(898-900)CAG>CTG		ceroid-lipofuscinosis, neuronal 3							83.0	81.0	82.0					16																	28493805		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493805T>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.899A>T	16.37:g.28493805T>A	ENSP00000454229:p.Gln300Leu					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.Q222L|CLN3_uc010vcu.1_Missense_Mutation_p.Q200L|CLN3_uc002dpn.2_Missense_Mutation_p.Q201L|CLN3_uc002dpm.2_Missense_Mutation_p.Q246L|CLN3_uc010vcv.1_Missense_Mutation_p.Q276L|CLN3_uc010byd.2_Missense_Mutation_p.Q300L|CLN3_uc002dpp.2_Missense_Mutation_p.Q300L|CLN3_uc002dpt.1_Missense_Mutation_p.Q200L|CLN3_uc002dpq.1_Missense_Mutation_p.Q252L|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.Q173L|CLN3_uc002dpu.1_Missense_Mutation_p.Q198L|CLN3_uc002dpw.1_Missense_Mutation_p.Q147L|CLN3_uc010vcw.1_Missense_Mutation_p.Q246L|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.Q177L|CLN3_uc002dpy.1_Missense_Mutation_p.Q144L	p.Q300L	NM_000086	NP_000077	Q13286	CLN3_HUMAN			11	1222	-			300					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.899A>T	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	t	19.20	3.782026	0.70222	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-3.57	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.114168	0.64402	D	0.000009	D	0.97974	0.9333	M	0.89414	3.03	0.32136	N	0.58609	B;B;B;B;B;B;B;D	0.59767	0.071;0.047;0.119;0.194;0.071;0.097;0.329;0.986	B;B;B;B;B;B;B;P	0.56474	0.077;0.05;0.115;0.1;0.085;0.046;0.362;0.799	D	0.99780	1.1027	10	0.45353	T	0.12	-16.1742	12.0065	0.53261	0.0:0.0:0.0:1.0	.	276;300;198;200;246;252;300;201	B4DXL3;Q13286-4;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	L	222;300;300;252;246;200;201;190	ENSP00000443221:Q222L;ENSP00000353073:Q300L;ENSP00000353116:Q300L;ENSP00000347660:Q252L;ENSP00000350523:Q246L;ENSP00000379014:Q200L;ENSP00000350457:Q201L;ENSP00000349586:Q190L	ENSP00000347660:Q252L	Q	-	2	0	CLN3	28401306	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.505000	0.73708	2.098000	0.63641	0.454000	0.30748	CAG		0.547	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			22	38	0	0	0	0	22	38				
SEPHS2	22928	broad.mit.edu	37	16	30456594	30456594	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:30456594C>A	ENST00000478753.2	-	1	908	c.455G>T	c.(454-456)cGc>cTc	p.R152L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.R95L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.R152L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	152					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAAGCTATGCGCCCCATCAT	0.547																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	uc010ves.1		NA																	0				breast(2)	2						c.(454-456)CGC>CTC		selenophosphate synthetase 2							84.0	82.0	83.0					16																	30456594		2076	4208	6284	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456594C>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.455G>T	16.37:g.30456594C>A	ENSP00000418669:p.Arg152Leu					SEPHS2_uc002dyh.1_Missense_Mutation_p.R95L|SEPHS2_uc010vet.1_Missense_Mutation_p.R34L	p.R152L	NM_012248	NP_036380	Q99611	SPS2_HUMAN			2	631	-			152					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.455G>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.077246	0.76415	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	4.69	0.59074	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.051153	0.85682	D	0.000000	T	0.58793	0.2147	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.70487	0.969;0.955	T	0.66791	-0.5834	10	0.87932	D	0	-15.6977	12.7398	0.57246	0.0:0.92:0.0:0.08	.	152;95	Q99611;F5H8F9	SPS2_HUMAN;.	L	152;95;103;152	ENSP00000418669:R152L;ENSP00000443601:R95L;ENSP00000426234:R152L	ENSP00000390233:R103L	R	-	2	0	SEPHS2	30364095	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.318000	0.79029	1.534000	0.49203	-0.140000	0.14226	CGC		0.547	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		23	46	1	0	5.35e-06	6.11e-06	23	46				
ITFG1	81533	broad.mit.edu	37	16	47345160	47345160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:47345160G>A	ENST00000320640.6	-	10	1289	c.1061C>T	c.(1060-1062)aCa>aTa	p.T354I	ITFG1_ENST00000544001.2_Missense_Mutation_p.T241I|Y_RNA_ENST00000410835.1_RNA|RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	354						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CCTTCCAGATGTGTTCTTTAG	0.353																																						uc002eet.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1060-1062)ACA>ATA		integrin alpha FG-GAP repeat containing 1							91.0	78.0	82.0					16																	47345160		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47345160G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1061C>T	16.37:g.47345160G>A	ENSP00000319918:p.Thr354Ile					ITFG1_uc010vgg.1_Missense_Mutation_p.T99I|ITFG1_uc010vgh.1_Missense_Mutation_p.T241I	p.T354I	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			10	1123	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	354					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1061C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978127	0.53720	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.21361	2.01;2.01	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.68952	2.095	0.80722	D	1	B;P	0.36909	0.279;0.573	B;B	0.36766	0.086;0.232	T	0.03240	-1.1057	10	0.23891	T	0.37	-13.3337	19.4375	0.94801	0.0:0.0:1.0:0.0	.	241;354	F5GXC5;Q8TB96	.;TIP_HUMAN	I	354;14;99;241	ENSP00000319918:T354I;ENSP00000441062:T241I	ENSP00000319918:T354I	T	-	2	0	ITFG1	45902661	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.142000	0.58044	2.594000	0.87642	0.650000	0.86243	ACA		0.353	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		15	25	0	0	0	0	15	25				
CNGB1	1258	broad.mit.edu	37	16	57931410	57931410	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:57931410T>A	ENST00000251102.8	-	31	3193	c.3133A>T	c.(3133-3135)Aac>Tac	p.N1045Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.N1039Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1045					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACCACGTTGGCCGTGCGC	0.557																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(3133-3135)AAC>TAC		cyclic nucleotide gated channel beta 1 isoform							36.0	38.0	38.0					16																	57931410		1926	4121	6047	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57931410T>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3133A>T	16.37:g.57931410T>A	ENSP00000251102:p.Asn1045Tyr					CNGB1_uc010cdh.2_Missense_Mutation_p.N1039Y	p.N1045Y	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			31	3198	-			1045			Cytoplasmic (Potential).|cAMP (By similarity).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3133A>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607148	0.87157	.	.	ENSG00000070729	ENST00000251102	D	0.92965	-3.14	5.23	5.23	0.72850	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.993;0.998	D	0.96802	0.9590	10	0.87932	D	0	.	14.2942	0.66300	0.0:0.0:0.0:1.0	.	417;1045	Q14028-2;Q14028	.;CNGB1_HUMAN	Y	1045	ENSP00000251102:N1045Y	ENSP00000251102:N1045Y	N	-	1	0	CNGB1	56488911	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	8.040000	0.89188	1.979000	0.57680	0.397000	0.26171	AAC		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		14	33	0	0	0	0	14	33				
CDH8	1006	broad.mit.edu	37	16	61935119	61935119	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:61935119G>T	ENST00000577390.1	-	3	1465	c.511C>A	c.(511-513)Ccc>Acc	p.P171T	CDH8_ENST00000299345.6_Missense_Mutation_p.P171T|CDH8_ENST00000584337.1_Missense_Mutation_p.P171T|CDH8_ENST00000577730.1_Missense_Mutation_p.P171T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	171	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATGATAGGGTCCATTAAGA	0.398																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(511-513)CCC>ACC		cadherin 8, type 2 preproprotein							118.0	116.0	117.0					16																	61935119		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935119G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.511C>A	16.37:g.61935119G>T	ENSP00000462701:p.Pro171Thr						p.P171T	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	763	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	171			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.511C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413135	0.62511	.	.	ENSG00000150394	ENST00000299345	T	0.58652	0.32	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.094748	0.85682	D	0.000000	T	0.49541	0.1563	L	0.28274	0.84	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28870	-1.0030	10	0.34782	T	0.22	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	171	P55286	CADH8_HUMAN	T	171	ENSP00000299345:P171T	ENSP00000299345:P171T	P	-	1	0	CDH8	60492620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CCC		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		30	59	1	0	4.03e-09	4.96e-09	30	59				
CDH11	1009	broad.mit.edu	37	16	64984725	64984725	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:64984725G>A	ENST00000268603.4	-	12	2454	c.1839C>T	c.(1837-1839)gcC>gcT	p.A613A	CDH11_ENST00000394156.3_Silent_p.A613A|CDH11_ENST00000566827.1_Silent_p.A487A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	613					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)		TGCTCAGGCCGGCGTTCAGAA	0.637			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.(1837-1839)GCC>GCT		cadherin 11, type 2 preproprotein							87.0	66.0	73.0					16																	64984725		2203	4300	6503	SO:0001819	synonymous_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.chr16:64984725G>A	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.1839C>T	16.37:g.64984725G>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.A613A|CDH11_uc010vin.1_Silent_p.A487A	p.A613A	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2273	-		Ovarian(137;0.0973)	613			Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1839C>T	CCDS10803.1																																																																																				0.637	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		13	25	0	0	0	0	13	25				
CDH11	1009	broad.mit.edu	37	16	65022110	65022110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:65022110C>A	ENST00000268603.4	-	7	1564	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	CDH11_ENST00000394156.3_Nonsense_Mutation_p.E317*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E191*	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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)		GTTGTGATTTCAAACGATTCC	0.443			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.(949-951)GAA>TAA		cadherin 11, type 2 preproprotein							366.0	306.0	327.0					16																	65022110		2203	4300	6503	SO:0001587	stop_gained	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.chr16:65022110C>A	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.949G>T	16.37:g.65022110C>A	ENSP00000268603:p.Glu317*	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Nonsense_Mutation_p.E317*|CDH11_uc010vin.1_Nonsense_Mutation_p.E191*	p.E317*	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1383	-		Ovarian(137;0.0973)	317			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Nonsense_Mutation	SNP	ENST00000268603.4	37	c.949G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	41	8.907892	0.98998	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.7081	0.91646	0.0:1.0:0.0:0.0	.	.	.	.	X	317;317;300	.	ENSP00000268603:E317X	E	-	1	0	CDH11	63579611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.904000	0.63279	2.665000	0.90641	0.650000	0.86243	GAA		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		71	106	1	0	9.43e-34	1.37e-33	71	106				
SLC12A4	6560	broad.mit.edu	37	16	67981323	67981323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:67981323C>T	ENST00000316341.3	-	16	2123	c.1983G>A	c.(1981-1983)tgG>tgA	p.W661*	SLC12A4_ENST00000572037.1_Nonsense_Mutation_p.W613*|SLC12A4_ENST00000422611.2_Nonsense_Mutation_p.W663*|SLC12A4_ENST00000541864.2_Nonsense_Mutation_p.W630*|SLC12A4_ENST00000537830.2_Nonsense_Mutation_p.W655*|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Nonsense_Mutation_p.W661*|SLC12A4_ENST00000576616.1_Nonsense_Mutation_p.W661*	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	661					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCGTCACCCCACTCCTTCT	0.667																																						uc002euz.2		NA																	0				ovary(1)	1						c.(1981-1983)TGG>TGA		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						46.0	55.0	52.0					16																	67981323		2195	4299	6494	SO:0001587	stop_gained	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67981323C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1983G>A	16.37:g.67981323C>T	ENSP00000318557:p.Trp661*					SLC12A4_uc010ceu.2_Nonsense_Mutation_p.W655*|SLC12A4_uc010vkh.1_Nonsense_Mutation_p.W630*|SLC12A4_uc010vki.1_Nonsense_Mutation_p.W661*|SLC12A4_uc010vkj.1_Nonsense_Mutation_p.W663*|SLC12A4_uc002eva.2_Nonsense_Mutation_p.W661*|SLC12A4_uc010cev.1_RNA|SLC12A4_uc002evb.2_RNA	p.W661*	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2124	-		Ovarian(137;0.192)	661					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Nonsense_Mutation	SNP	ENST00000316341.3	37	c.1983G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	40	7.957894	0.98583	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	.	.	.	X	663;630;655;661;661	.	ENSP00000318557:W661X	W	-	3	0	SLC12A4	66538824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.742000	0.85008	2.732000	0.93576	0.655000	0.94253	TGG		0.667	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	10	0	0	0	0	5	10				
NFAT5	10725	broad.mit.edu	37	16	69727108	69727108	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:69727108C>G	ENST00000354436.2	+	12	3644	c.3326C>G	c.(3325-3327)tCt>tGt	p.S1109C	NFAT5_ENST00000567239.1_Missense_Mutation_p.S1126C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1127C|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1033C|NFAT5_ENST00000349945.1_Missense_Mutation_p.S1033C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1033C	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1109					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAACCTCCTCTGAACAAATG	0.438																																						uc002exm.1		NA																	0					0						c.(3325-3327)TCT>TGT		nuclear factor of activated T-cells 5 isoform c							101.0	104.0	103.0					16																	69727108		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727108C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3326C>G	16.37:g.69727108C>G	ENSP00000346420:p.Ser1109Cys					NFAT5_uc002exi.2_Missense_Mutation_p.S1033C|NFAT5_uc002exj.1_Missense_Mutation_p.S1033C|NFAT5_uc002exk.1_Missense_Mutation_p.S1033C|NFAT5_uc002exl.1_Missense_Mutation_p.S1127C|NFAT5_uc002exn.1_Missense_Mutation_p.S1126C|NFAT5_uc002exo.1_RNA	p.S1109C	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	4534	+			1109					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3326C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718870	0.48622	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.49720	0.78;0.77;0.77;0.77	5.83	5.83	0.93111	.	0.187366	0.48767	D	0.000178	T	0.46718	0.1407	L	0.59436	1.845	0.35418	D	0.792988	P;P;P	0.45348	0.856;0.856;0.856	B;B;B	0.40101	0.319;0.319;0.319	T	0.63157	-0.6700	10	0.62326	D	0.03	-3.1731	14.9003	0.70672	0.1432:0.8568:0.0:0.0	.	1126;1109;1127	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	C	1127;1126;1033;1109;1033	ENSP00000396538:S1127C;ENSP00000338806:S1033C;ENSP00000346420:S1109C;ENSP00000377343:S1033C	ENSP00000338806:S1033C	S	+	2	0	NFAT5	68284609	0.981000	0.34729	0.726000	0.30738	0.994000	0.84299	3.831000	0.55776	2.756000	0.94617	0.655000	0.94253	TCT		0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		35	122	0	0	0	0	35	122				
ZFHX3	463	broad.mit.edu	37	16	72821667	72821667	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:72821667T>A	ENST00000268489.5	-	10	11180	c.10508A>T	c.(10507-10509)cAc>cTc	p.H3503L	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.H2589L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3503					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gGTGGGGACGTGAAGCACCAT	0.731																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(10507-10509)CAC>CTC		zinc finger homeobox 3 isoform A							28.0	27.0	28.0					16																	72821667		2195	4298	6493	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821667T>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10508A>T	16.37:g.72821667T>A	ENSP00000268489:p.His3503Leu					uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.H2589L	p.H3503L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11181	-		Ovarian(137;0.13)	3503					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10508A>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298086	0.40694	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.87179	-2.22;-2.22	4.22	1.94	0.25998	.	0.120355	0.37053	N	0.002271	T	0.71117	0.3302	N	0.08118	0	0.36978	D	0.894159	B	0.13594	0.008	B	0.09377	0.004	T	0.66304	-0.5957	10	0.66056	D	0.02	.	6.9615	0.24599	0.0:0.3626:0.0:0.6374	.	3503	Q15911	ZFHX3_HUMAN	L	3503;2589	ENSP00000268489:H3503L;ENSP00000438926:H2589L	ENSP00000268489:H3503L	H	-	2	0	ZFHX3	71379168	0.787000	0.28750	1.000000	0.80357	0.997000	0.91878	0.857000	0.27831	0.609000	0.30018	0.455000	0.32223	CAC		0.731	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	29	0	0	0	0	13	29				
ANKRD11	29123	broad.mit.edu	37	16	89351869	89351869	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr16:89351869C>A	ENST00000301030.4	-	9	1541	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V361L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	361					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGTCGTCCACCGGAGGAACC	0.468																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1081-1083)GTG>TTG		ankyrin repeat domain 11							166.0	168.0	167.0					16																	89351869		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351869C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1081G>T	16.37:g.89351869C>A	ENSP00000301030:p.Val361Leu					ANKRD11_uc002fmy.1_Missense_Mutation_p.V361L|ANKRD11_uc002fnc.1_Missense_Mutation_p.V361L|ANKRD11_uc002fnb.1_Missense_Mutation_p.V318L	p.V361L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1542	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	361					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1081G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923580	0.52653	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.38077	1.16;1.16	5.5	2.34	0.29019	.	0.329454	0.31312	N	0.007862	T	0.52025	0.1709	M	0.62723	1.935	0.80722	D	1	P	0.51537	0.946	D	0.63877	0.919	T	0.48592	-0.9022	10	0.52906	T	0.07	.	11.9615	0.53011	0.1284:0.625:0.2467:0.0	.	361	Q6UB99	ANR11_HUMAN	L	361;361;375	ENSP00000301030:V361L;ENSP00000367581:V361L	ENSP00000301030:V361L	V	-	1	0	ANKRD11	87879370	1.000000	0.71417	0.544000	0.28141	0.524000	0.34500	4.771000	0.62318	0.243000	0.21327	0.563000	0.77884	GTG		0.468	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		60	125	1	0	1.93e-42	2.82e-42	60	125				
PRPF8	10594	broad.mit.edu	37	17	1576801	1576801	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:1576801C>A	ENST00000572621.1	-	22	3772	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1169H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1169	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTCTCCCACTGAACTGTAG	0.547																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(3505-3507)CAG>CAT		U5 snRNP-specific protein							174.0	138.0	150.0					17																	1576801		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576801C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3507G>T	17.37:g.1576801C>A	ENSP00000460348:p.Gln1169His						p.Q1169H	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	23	3621	-			1169					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3507G>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680160	0.47886	.	.	ENSG00000174231	ENST00000304992	T	0.80123	-1.34	6.06	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	N	0.08118	0	0.58432	D	0.999997	B	0.29886	0.26	B	0.32022	0.139	T	0.65701	-0.6104	10	0.66056	D	0.02	.	12.9325	0.58294	0.0:0.8689:0.0:0.1311	.	1169	Q6P2Q9	PRP8_HUMAN	H	1169	ENSP00000304350:Q1169H	ENSP00000304350:Q1169H	Q	-	3	2	PRPF8	1523551	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.723000	0.38053	0.892000	0.36259	-0.157000	0.13467	CAG		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			29	57	1	0	2.44e-19	3.37e-19	29	57				
OR3A1	4994	broad.mit.edu	37	17	3195410	3195410	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:3195410A>G	ENST00000323404.1	-	1	466	c.467T>C	c.(466-468)tTc>tCc	p.F156S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|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)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCGTTGGTGAAAGCACAAGC	0.572																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	0				kidney(2)|central_nervous_system(1)	3						c.(466-468)TTC>TCC		olfactory receptor, family 3, subfamily A,							181.0	163.0	169.0					17																	3195410		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195410A>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.467T>C	17.37:g.3195410A>G	ENSP00000313803:p.Phe156Ser						p.F156S	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	467	-			156			Helical; Name=4; (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.467T>C	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088593	0.36855	.	.	ENSG00000180090	ENST00000323404	T	0.00216	8.53	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.123206	0.37393	N	0.002102	T	0.00210	0.0006	L	0.41961	1.31	0.21967	N	0.999441	B	0.33549	0.417	B	0.35899	0.213	T	0.52990	-0.8501	10	0.42905	T	0.14	-49.337	13.9046	0.63826	1.0:0.0:0.0:0.0	.	156	P47881	OR3A1_HUMAN	S	156	ENSP00000313803:F156S	ENSP00000313803:F156S	F	-	2	0	OR3A1	3142160	0.001000	0.12720	0.979000	0.43373	0.748000	0.42578	1.480000	0.35464	2.143000	0.66587	0.528000	0.53228	TTC		0.572	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			47	102	0	0	0	0	47	102				
ALOX12	239	broad.mit.edu	37	17	6913397	6913397	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:6913397T>C	ENST00000251535.6	+	13	1817	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Missense_Mutation_p.D7G|RNASEK_ENST00000548577.1_5'Flank|AC027763.2_ENST00000399540.2_Intron|RNASEK_ENST00000402093.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	588	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GGCAGGCCTGTCTTCAAATGG	0.562																																						uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(1762-1764)TGT>TGC		arachidonate 12-lipoxygenase							71.0	60.0	64.0					17																	6913397		2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6913397T>C	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1764T>C	17.37:g.6913397T>C						uc002gdy.1_Intron|ALOX12_uc002gdz.3_Silent_p.C58C|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	p.C588C	NM_000697	NP_000688	P18054	LOX12_HUMAN			13	1817	+			588			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1764T>C	CCDS11084.1																																																																																				0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			13	34	0	0	0	0	13	34				
NLGN2	57555	broad.mit.edu	37	17	7317751	7317751	+	Silent	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7317751A>T	ENST00000302926.2	+	3	670	c.597A>T	c.(595-597)tcA>tcT	p.S199S	NLGN2_ENST00000575301.1_Silent_p.S199S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	199					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCGATGGCTCAGTCCTGGCTG	0.597																																						uc002ggt.1		NA																	0				central_nervous_system(1)	1						c.(595-597)TCA>TCT		neuroligin 2 precursor							102.0	86.0	91.0					17																	7317751		2203	4300	6503	SO:0001819	synonymous_variant	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7317751A>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.597A>T	17.37:g.7317751A>T							p.S199S	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			3	670	+		Prostate(122;0.157)	199			Extracellular (Potential).		Q9P2I1	Silent	SNP	ENST00000302926.2	37	c.597A>T	CCDS11103.1																																																																																				0.597	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		27	73	0	0	0	0	27	73				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>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.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	p.C238F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	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.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	62	1	0	1.26e-06	1.47e-06	20	62				
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G	rs371524413		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7578463C>G	ENST00000269305.4	-	5	656	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R156P|TP53_ENST00000420246.2_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P	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	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)	GGCGCGGACGCGGGTGCCGGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		72	Substitution - Missense(37)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(1)	p.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(1)	breast(9)|lung(8)|ovary(8)|stomach(7)|upper_aerodigestive_tract(6)|large_intestine(5)|skin(5)|bone(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|kidney(2)|liver(2)|oesophagus(2)|biliary_tract(1)|prostate(1)|pancreas(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	CM984589	TP53	M		c.(466-468)CGC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578463		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578463C>G	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.467G>C	17.37:g.7578463C>G	ENSP00000269305:p.Arg156Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R156P|TP53_uc002gih.2_Missense_Mutation_p.R156P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24P|TP53_uc010cng.1_Missense_Mutation_p.R24P|TP53_uc002gii.1_Missense_Mutation_p.R24P|TP53_uc010cnh.1_Missense_Mutation_p.R156P|TP53_uc010cni.1_Missense_Mutation_p.R156P|TP53_uc002gij.2_Missense_Mutation_p.R156P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63P|TP53_uc002gio.2_Missense_Mutation_p.R24P|TP53_uc010vug.1_Missense_Mutation_p.R117P	p.R156P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	661	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.467G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076061	0.36662	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.47	3.45	0.39498	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.99576	0.9847	M	0.73598	2.24	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.96;0.985;0.982;0.996;1.0	D;P;P;D;P;D;D	0.74674	0.984;0.887;0.614;0.924;0.902;0.953;0.958	D	0.99552	1.0966	10	0.54805	T	0.06	-1.0137	6.8349	0.23931	0.3112:0.607:0.0:0.0817	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156P;ENSP00000352610:R156P;ENSP00000269305:R156P;ENSP00000398846:R156P;ENSP00000391127:R156P;ENSP00000391478:R156P;ENSP00000425104:R24P;ENSP00000423862:R63P;ENSP00000424104:R156P	ENSP00000269305:R156P	R	-	2	0	TP53	7519188	0.333000	0.24731	0.002000	0.10522	0.138000	0.21146	4.631000	0.61304	0.779000	0.33543	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	43	0	0	0	0	17	43				
DNAH2	146754	broad.mit.edu	37	17	7734089	7734089	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:7734089G>T	ENST00000572933.1	+	79	13619	c.12159G>T	c.(12157-12159)tgG>tgT	p.W4053C	DNAH2_ENST00000389173.2_Missense_Mutation_p.W4053C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4053					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)				CAGATGACTGGGACCGGCGCC	0.547																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12157-12159)TGG>TGT		dynein heavy chain domain 3							91.0	90.0	90.0					17																	7734089		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.chr17:7734089G>T	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.12159G>T	17.37:g.7734089G>T	ENSP00000458355:p.Trp4053Cys					DNAH2_uc010cnm.1_Missense_Mutation_p.W991C	p.W4053C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			78	12173	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4053					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12159G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201480	0.79015	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.12465	2.68	5.73	5.73	0.89815	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.71679	-0.4520	10	0.72032	D	0.01	.	18.6739	0.91521	0.0:0.0:1.0:0.0	.	4014;4053	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	4014;4053	ENSP00000373825:W4053C	ENSP00000353818:W4014C	W	+	3	0	DNAH2	7674814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.387000	0.97232	2.722000	0.93159	0.655000	0.94253	TGG		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	43	1	0	3.41e-10	4.28e-10	18	43				
ARHGEF15	22899	broad.mit.edu	37	17	8219105	8219105	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8219105C>A	ENST00000361926.3	+	8	1564	c.1454C>A	c.(1453-1455)tCt>tAt	p.S485Y	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S485Y	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	485	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						CGTGTGCGCTCTTCCCCCCAC	0.577																																						uc002glc.2		NA																	0				ovary(2)|skin(1)	3						c.(1453-1455)TCT>TAT		Rho guanine exchange factor 15							80.0	74.0	76.0					17																	8219105		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8219105C>A	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.1454C>A	17.37:g.8219105C>A	ENSP00000355026:p.Ser485Tyr					ARHGEF15_uc002gld.2_Missense_Mutation_p.S485Y|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S374Y	p.S485Y	NM_173728	NP_776089	O94989	ARHGF_HUMAN			8	1575	+			485			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1454C>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	18.21	3.573196	0.65765	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.64085	-0.08;-0.08	5.14	4.13	0.48395	Dbl homology (DH) domain (5);	0.566567	0.19966	N	0.102113	T	0.66626	0.2808	L	0.47190	1.495	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.58077	0.832;0.832	T	0.57768	-0.7754	10	0.54805	T	0.06	-8.8576	10.7173	0.46019	0.0:0.7916:0.2084:0.0	.	485;485	D3DTR7;O94989	.;ARHGF_HUMAN	Y	485;275;485	ENSP00000355026:S485Y;ENSP00000412505:S485Y	ENSP00000355026:S485Y	S	+	2	0	ARHGEF15	8159830	0.015000	0.18098	0.995000	0.50966	0.947000	0.59692	0.641000	0.24720	2.686000	0.91538	0.561000	0.74099	TCT		0.577	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		17	18	1	0	5.35e-07	6.29e-07	17	18				
PIK3R6	146850	broad.mit.edu	37	17	8707437	8707437	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:8707437T>C	ENST00000311434.9	-	20	2266	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	677					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GCTCTGGATCTGGATATTGTT	0.587																																						uc002glq.1		NA																	0					0						c.(2029-2031)CAG>CGG		phosphoinositide-3-kinase, regulatory subunit 6							100.0	111.0	107.0					17																	8707437		2144	4246	6390	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8707437T>C	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.2027A>G	17.37:g.8707437T>C	ENSP00000475670:p.Gln676Arg					PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.Q677R	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			20	2270	-			677					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.2030A>G																																																																																					0.587	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		12	20	0	0	0	0	12	20				
GAS7	8522	broad.mit.edu	37	17	10101583	10101583	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:10101583C>A	ENST00000432992.2	-	1	285	c.125G>T	c.(124-126)gGc>gTc	p.G42V	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	42	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTCCTTCTCGCCTTCCCACCA	0.726			T	MLL	AML*																																	uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				lung(1)|pancreas(1)	2						c.(124-126)GGC>GTC		growth arrest-specific 7 isoform c							24.0	27.0	26.0					17																	10101583		2190	4274	6464	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:10101583C>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.125G>T	17.37:g.10101583C>A	ENSP00000407552:p.Gly42Val						p.G42V	NM_201433	NP_958839	O60861	GAS7_HUMAN			1	286	-			42			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.125G>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773166	0.90108	.	.	ENSG00000007237	ENST00000323816	.	.	.	3.64	3.64	0.41730	Src homology-3 domain (4);	0.114291	0.34362	U	0.004036	T	0.79046	0.4380	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.82072	-0.0638	8	.	.	.	-6.6193	12.8467	0.57833	0.0:1.0:0.0:0.0	.	42	O60861	GAS7_HUMAN	V	42	.	.	G	-	2	0	GAS7	10042308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.464000	0.73534	1.874000	0.54306	0.455000	0.32223	GGC		0.726	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		17	31	1	0	8.34e-07	9.73e-07	17	31				
DNAH9	1770	broad.mit.edu	37	17	11757566	11757566	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:11757566C>A	ENST00000262442.4	+	50	9822	c.9754C>A	c.(9754-9756)Cct>Act	p.P3252T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3252T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3252	Stalk. {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)		CGAGTTCAATCCTGAGTTTGT	0.488																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9754-9756)CCT>ACT		dynein, axonemal, heavy chain 9 isoform 2							152.0	142.0	145.0					17																	11757566		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.chr17:11757566C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9754C>A	17.37:g.11757566C>A	ENSP00000262442:p.Pro3252Thr					DNAH9_uc010coo.2_Missense_Mutation_p.P2546T	p.P3252T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9822	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3252			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9754C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428893	0.62844	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81908	-1.55;-1.55	5.44	5.44	0.79542	Dynein heavy chain, coiled coil stalk (1);	0.405411	0.26975	N	0.021546	D	0.94653	0.8276	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95228	0.8340	10	0.49607	T	0.09	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	3252	Q9NYC9	DYH9_HUMAN	T	3252;3252;1834	ENSP00000262442:P3252T;ENSP00000414874:P3252T	ENSP00000262442:P3252T	P	+	1	0	DNAH9	11698291	1.000000	0.71417	0.990000	0.47175	0.353000	0.29299	7.260000	0.78391	2.828000	0.97474	0.655000	0.94253	CCT		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	106	1	0	1.7e-12	2.22e-12	40	106				
UBB	7314	broad.mit.edu	37	17	16285753	16285753	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:16285753G>A	ENST00000395837.1	+	2	713	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	UBB_ENST00000578649.1_3'UTR|UBB_ENST00000302182.3_Missense_Mutation_p.V178M|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Missense_Mutation_p.V102M|UBB_ENST00000395839.1_Missense_Mutation_p.V178M	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	178	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CATCGAAAATGTGAAGGCCAA	0.552																																					Melanoma(163;1126 3406 34901)	uc002gpx.2		NA																	0				skin(3)	3						c.(532-534)GTG>ATG		ubiquitin B precursor							72.0	73.0	73.0					17																	16285753		2203	4300	6503	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285753G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.532G>A	17.37:g.16285753G>A	ENSP00000379178:p.Val178Met					UBB_uc010vwe.1_Missense_Mutation_p.V102M	p.V178M	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	670	+			178			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.532G>A	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968429	0.53614	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	3.83	3.83	0.44106	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.45867	U	0.000321	T	0.58736	0.2143	M	0.87900	2.915	0.80722	D	1	D	0.52996	0.957	D	0.65010	0.931	T	0.69198	-0.5208	10	0.87932	D	0	.	15.1539	0.72723	0.0:0.0:1.0:0.0	.	178	P0CG47	UBB_HUMAN	M	178;102;178;178	ENSP00000304697:V178M;ENSP00000437475:V102M;ENSP00000379180:V178M;ENSP00000379178:V178M	ENSP00000304697:V178M	V	+	1	0	UBB	16226478	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.016000	0.93645	1.886000	0.54624	0.549000	0.68633	GTG		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		21	47	0	0	0	0	21	47				
TRIM16L	147166	broad.mit.edu	37	17	18638707	18638707	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:18638707C>A	ENST00000449552.2	+	7	2465	c.981C>A	c.(979-981)atC>atA	p.I327I	TRIM16L_ENST00000395902.3_Silent_p.I381I|TRIM16L_ENST00000395671.4_Silent_p.I327I|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.I327I|TRIM16L_ENST00000571708.1_Silent_p.I327I|TRIM16L_ENST00000395672.2_Silent_p.I327I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AAAACGCCATCCGGATTGTAG	0.527																																						uc002gug.1		NA																	0					0						c.(979-981)ATC>ATA		tripartite motif-containing 16-like							41.0	42.0	42.0					17																	18638707		2203	4297	6500	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638707C>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.981C>A	17.37:g.18638707C>A						TRIM16L_uc010vyf.1_Silent_p.I381I|TRIM16L_uc002guh.1_Silent_p.I327I|TRIM16L_uc010cqg.1_Silent_p.I429I|TRIM16L_uc002gui.1_Silent_p.I327I|TRIM16L_uc010vyg.1_Silent_p.I327I|TRIM16L_uc010vyh.1_3'UTR	p.I327I	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			10	1668	+			327			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.981C>A	CCDS32588.1																																																																																				0.527	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		8	33	1	0	3.53e-06	4.06e-06	8	33				
ASIC2	40	broad.mit.edu	37	17	32483062	32483062	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:32483062G>T	ENST00000359872.6	-	1	1251	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	164					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ATATCCTTCAGGTCATGGCCC	0.557																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(490-492)CTG>ATG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						105.0	110.0	108.0					17																	32483062		2105	4236	6341	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483062G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.490C>A	17.37:g.32483062G>T	ENSP00000352934:p.Leu164Met						p.L164M	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	764	-		Breast(31;0.042)|Ovarian(249;0.202)	164			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.490C>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663810	0.47572	.	.	ENSG00000108684	ENST00000359872	T	0.65178	-0.14	5.06	4.1	0.47936	.	.	.	.	.	T	0.63414	0.2509	M	0.63843	1.955	0.58432	D	0.999999	P	0.36438	0.553	B	0.42593	0.392	T	0.65232	-0.6218	9	0.51188	T	0.08	.	11.5048	0.50459	0.0871:0.0:0.9129:0.0	.	164	Q16515	ACCN1_HUMAN	M	164	ENSP00000352934:L164M	ENSP00000352934:L164M	L	-	1	2	ACCN1	29507175	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.560000	0.60802	1.355000	0.45865	-0.137000	0.14449	CTG		0.557	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		23	72	1	0	1.18e-14	1.58e-14	23	72				
GAS2L2	246176	broad.mit.edu	37	17	34074283	34074283	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:34074283G>A	ENST00000254466.6	-	5	864	c.837C>T	c.(835-837)caC>caT	p.H279H	GAS2L2_ENST00000587565.1_Silent_p.H263H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	279					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)		TGCCTGGCTTGTGTGCTACCA	0.597																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(835-837)CAC>CAT		growth arrest-specific 2 like 2							113.0	120.0	118.0					17																	34074283		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074283G>A	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.837C>T	17.37:g.34074283G>A							p.H279H	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	865	-		Ovarian(249;0.17)	279					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.837C>T	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		52	101	0	0	0	0	52	101				
TADA2A	6871	broad.mit.edu	37	17	35818669	35818669	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:35818669G>T	ENST00000394395.2	+	9	821	c.648G>T	c.(646-648)aaG>aaT	p.K216N	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.K216N|TADA2A_ENST00000225396.6_Missense_Mutation_p.K216N|TADA2A_ENST00000417170.1_Missense_Mutation_p.K216N	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	216					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCAGGTTAAAGGAGAGACAAA	0.323																																						uc002hnt.2		NA																	0				breast(3)|skin(1)	4						c.(646-648)AAG>AAT		transcriptional adaptor 2A isoform a							69.0	71.0	70.0					17																	35818669		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35818669G>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.648G>T	17.37:g.35818669G>T	ENSP00000377918:p.Lys216Asn					TADA2A_uc002hnu.1_Missense_Mutation_p.K216N|TADA2A_uc002hnv.2_Missense_Mutation_p.K216N|TADA2A_uc010wdd.1_Missense_Mutation_p.K216N|TADA2A_uc002hnw.2_Missense_Mutation_p.K115N|TADA2A_uc010cvb.2_Missense_Mutation_p.K12N	p.K216N	NM_001488	NP_001479	O75478	TAD2A_HUMAN			9	805	+			216					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.648G>T	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838429	0.51057	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.44881	0.91;0.91;0.91	6.17	1.17	0.20885	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	N	0.22421	0.69	0.58432	D	0.999998	P;B	0.36010	0.532;0.073	B;B	0.30943	0.122;0.014	T	0.03473	-1.1033	10	0.21540	T	0.41	-21.5903	11.9382	0.52886	0.241:0.0:0.759:0.0	.	216;216	O75478-2;O75478	.;TAD2A_HUMAN	N	216;115;216;216	ENSP00000377918:K216N;ENSP00000225396:K216N;ENSP00000406699:K216N	ENSP00000225396:K216N	K	+	3	2	TADA2A	32892782	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.314000	0.33597	0.081000	0.16988	0.655000	0.94253	AAG		0.323	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		13	34	1	0	2.32e-09	2.87e-09	13	34				
ORMDL3	94103	broad.mit.edu	37	17	38079494	38079494	+	Missense_Mutation	SNP	G	G	A	rs139204234	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:38079494G>A	ENST00000394169.1	-	5	1691	c.197C>T	c.(196-198)aCg>aTg	p.T66M	ORMDL3_ENST00000584220.1_Missense_Mutation_p.T50M|ORMDL3_ENST00000579695.1_Missense_Mutation_p.T66M|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000304046.2_Missense_Mutation_p.T66M			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	66					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCCCTTCACCGTGTGCAGGAA	0.582																																						uc002htj.1		NA																	0					0						c.(196-198)ACG>ATG		ORM1-like 3		G	MET/THR	0,4406		0,0,2203	153.0	149.0	151.0		197	5.4	1.0	17	dbSNP_134	151	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ORMDL3	NM_139280.2	81	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	66/154	38079494	4,13002	2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079494G>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.197C>T	17.37:g.38079494G>A	ENSP00000377724:p.Thr66Met					ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.T66M	p.T66M	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		3	337	-	Colorectal(19;0.000442)		66			Lumenal (Potential).		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.197C>T	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356847	0.61293	0.0	4.65E-4	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.39	5.39	0.77823	.	0.056371	0.64402	D	0.000001	T	0.65460	0.2693	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.61201	0.885	T	0.63571	-0.6607	9	0.38643	T	0.18	-16.9851	19.1554	0.93507	0.0:0.0:1.0:0.0	.	66	Q8N138	ORML3_HUMAN	M	66	.	ENSP00000304858:T66M	T	-	2	0	ORMDL3	35333020	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	9.869000	0.99810	2.528000	0.85240	0.655000	0.94253	ACG		0.582	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		39	120	0	0	0	0	39	120				
STAT5B	6777	broad.mit.edu	37	17	40362219	40362219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40362219C>A	ENST00000293328.3	-	15	2044	c.1876G>T	c.(1876-1878)Ggc>Tgc	p.G626C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	626	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ATGGTGATGCCGCCAATTTCT	0.428																																						uc002hzh.2		NA																	0				ovary(3)|lung(2)|skin(1)	6						c.(1876-1878)GGC>TGC		signal transducer and activator of transcription	Dasatinib(DB01254)						123.0	108.0	113.0					17																	40362219		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362219C>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1876G>T	17.37:g.40362219C>A	ENSP00000293328:p.Gly626Cys						p.G626C	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2045	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	626			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1876G>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851790	0.91355	.	.	ENSG00000173757	ENST00000293328	T	0.54866	0.55	5.44	4.45	0.53987	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77464	-0.2578	10	0.87932	D	0	-14.5673	14.7868	0.69810	0.0:0.9297:0.0:0.0703	.	626	P51692	STA5B_HUMAN	C	626	ENSP00000293328:G626C	ENSP00000293328:G626C	G	-	1	0	STAT5B	37615745	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.785000	0.68998	2.832000	0.97577	0.655000	0.94253	GGC		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		30	51	1	0	2.13e-12	2.77e-12	30	51				
PLEKHH3	79990	broad.mit.edu	37	17	40822701	40822701	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:40822701A>T	ENST00000591022.1	-	10	1831	c.1444T>A	c.(1444-1446)Ttg>Atg	p.L482M	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.L479M|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.L479M|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	482	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGTCCTCCAACCCAGCTTCC	0.672																																						uc002iau.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1444-1446)TTG>ATG		pleckstrin homology domain containing, family H							40.0	42.0	41.0					17																	40822701		2203	4300	6503	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40822701A>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1444T>A	17.37:g.40822701A>T	ENSP00000468678:p.Leu482Met					PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.L479M	p.L482M	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	10	1911	-		Breast(137;0.00116)	482			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1444T>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522085	0.44866	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D	0.87179	-2.22	5.28	-6.95	0.01628	Band 4.1 domain (1);FERM domain (1);	1.096730	0.07256	N	0.866726	T	0.70649	0.3248	N	0.08118	0	0.09310	N	1	B;B	0.31859	0.343;0.074	B;B	0.35813	0.206;0.211	T	0.61936	-0.6960	10	0.34782	T	0.22	-14.021	7.1572	0.25645	0.3382:0.4816:0.1801:0.0	.	479;482	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	M	141;482;479	ENSP00000411885:L479M	ENSP00000293349:L482M	L	-	1	2	PLEKHH3	38076227	0.001000	0.12720	0.001000	0.08648	0.098000	0.18820	-0.021000	0.12504	-0.635000	0.05531	-0.358000	0.07595	TTG		0.672	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		17	19	0	0	0	0	17	19				
ARL4D	379	broad.mit.edu	37	17	41477216	41477216	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:41477216A>T	ENST00000320033.4	+	2	323	c.116A>T	c.(115-117)tAc>tTc	p.Y39F		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	39					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCCTCCTTTACCGCCTCAAG	0.592																																						uc002idt.2		NA																	0				ovary(1)	1						c.(115-117)TAC>TTC		ADP-ribosylation factor-like 4D							77.0	73.0	74.0					17																	41477216		2203	4300	6503	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477216A>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.116A>T	17.37:g.41477216A>T	ENSP00000322628:p.Tyr39Phe						p.Y39F	NM_001661	NP_001652	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	297	+		Breast(137;0.00908)	39					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.116A>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845174	0.71603	.	.	ENSG00000175906	ENST00000320033	D	0.82619	-1.63	4.79	4.79	0.61399	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.92555	3.32	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94214	0.7461	10	0.87932	D	0	-11.6252	13.7255	0.62756	1.0:0.0:0.0:0.0	.	39	P49703	ARL4D_HUMAN	F	39	ENSP00000322628:Y39F	ENSP00000322628:Y39F	Y	+	2	0	ARL4D	38832742	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	9.040000	0.93783	2.123000	0.65237	0.460000	0.39030	TAC		0.592	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		20	40	0	0	0	0	20	40				
GPATCH8	23131	broad.mit.edu	37	17	42475961	42475961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42475961C>A	ENST00000591680.1	-	8	3514	c.3484G>T	c.(3484-3486)Gaa>Taa	p.E1162*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.E1084*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1162							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCAGACTCTTCACACTTCTTA	0.542																																						uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(3484-3486)GAA>TAA		G patch domain containing 8							121.0	129.0	126.0					17																	42475961		2202	4300	6502	SO:0001587	stop_gained	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475961C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3484G>T	17.37:g.42475961C>A	ENSP00000467556:p.Glu1162*					GPATCH8_uc002igv.1_Nonsense_Mutation_p.E1084*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.E1084*	p.E1162*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3548	-		Prostate(33;0.0181)	1162					B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	37	c.3484G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	38	6.863627	0.97893	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	4.99	4.99	0.66335	.	0.061990	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-21.0831	11.8875	0.52610	0.0:0.9206:0.0:0.0794	.	.	.	.	X	1162;1084	.	ENSP00000335486:E1162X	E	-	1	0	GPATCH8	39831487	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.635000	0.54309	2.602000	0.87976	0.650000	0.86243	GAA		0.542	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		50	121	1	0	1.33e-27	1.91e-27	50	121				
ADAM11	4185	broad.mit.edu	37	17	42852065	42852065	+	Splice_Site	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:42852065G>T	ENST00000200557.6	+	14	1337		c.e14-1		ADAM11_ENST00000535346.1_Splice_Site	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11						integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TCACCCCTCAGGGGACTGCAA	0.652																																						uc002ihh.2		NA																	0				pancreas(1)	1						c.e14-1		ADAM metallopeptidase domain 11 preproprotein							68.0	68.0	68.0					17																	42852065		2203	4300	6503	SO:0001630	splice_region_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42852065G>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1169-1G>T	17.37:g.42852065G>T						ADAM11_uc010wjd.1_Splice_Site_p.G190_splice|ADAM11_uc002ihi.2_5'Flank	p.G390_splice	NM_002390	NP_002381	O75078	ADA11_HUMAN			14	1169	+		Prostate(33;0.0959)						Q14808|Q14809|Q14810	Splice_Site	SNP	ENST00000200557.6	37	c.1169_splice	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259069	0.80246	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4767	0.75485	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM11	40207591	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	8.994000	0.93529	2.175000	0.68902	0.462000	0.41574	.		0.652	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	Intron	11	47	1	0	6.4e-05	7.08e-05	11	47				
MAPT	4137	broad.mit.edu	37	17	44068882	44068882	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:44068882G>C	ENST00000571987.1	+	8	1437	c.1437G>C	c.(1435-1437)caG>caC	p.Q479H	MAPT_ENST00000351559.5_Missense_Mutation_p.Q162H|MAPT_ENST00000344290.5_Missense_Mutation_p.Q479H|MAPT_ENST00000334239.8_Missense_Mutation_p.Q104H|MAPT_ENST00000431008.3_Missense_Mutation_p.Q162H|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000446361.3_Missense_Mutation_p.Q104H|MAPT_ENST00000576518.1_Missense_Mutation_p.Q93H|MAPT_ENST00000340799.5_Missense_Mutation_p.Q133H|MAPT_ENST00000574436.1_Missense_Mutation_p.Q162H|MAPT_ENST00000535772.1_Missense_Mutation_p.Q162H|MAPT_ENST00000262410.5_Missense_Mutation_p.Q479H|MAPT_ENST00000420682.2_Missense_Mutation_p.Q133H|MAPT_ENST00000415613.2_Missense_Mutation_p.Q479H|MAPT_ENST00000347967.5_Missense_Mutation_p.Q68H			P10636	TAU_HUMAN	microtubule-associated protein tau	479					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)	CTCCAGGCCAGAAGGGCCAGG	0.542																																						uc002ijr.3		NA																	0				pancreas(1)	1						c.(1435-1437)CAG>CAC		microtubule-associated protein tau isoform 1							92.0	98.0	96.0					17																	44068882		2203	4300	6503	SO:0001583	missense	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.chr17:44068882G>C	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.1437G>C	17.37:g.44068882G>C	ENSP00000458742:p.Gln479His					MAPT_uc010dau.2_Missense_Mutation_p.Q479H|MAPT_uc002ijs.3_Missense_Mutation_p.Q162H|MAPT_uc002ijx.3_Missense_Mutation_p.Q133H|MAPT_uc002ijt.3_Missense_Mutation_p.Q104H|MAPT_uc002iju.3_Missense_Mutation_p.Q104H|MAPT_uc002ijv.3_Missense_Mutation_p.Q111H	p.Q479H	NM_016835	NP_058519	P10636	TAU_HUMAN			9	1757	+		Melanoma(429;0.216)	479					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1437G>C	CCDS11501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.597268|3.597268	0.66332|0.66332	.|.	.|.	ENSG00000186868|ENSG00000186868	ENST00000431008|ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613	.|T;T;T;T;T;T;T;T;T;T	.|0.18960	.|2.83;2.8;2.2;2.19;2.46;2.18;2.22;2.47;2.19;2.83	4.91|4.91	1.38|1.38	0.22167|0.22167	.|.	.|0.000000	.|0.37809	.|N	.|0.001925	.|T	.|0.30103	.|0.0754	L|L	0.43152|0.43152	1.355|1.355	0.34304|0.34304	D|D	0.684747|0.684747	.|D;D;D;D;D;D;D	.|0.76494	.|0.997;0.997;0.997;0.998;0.997;0.988;0.999	.|D;D;D;D;D;D;D	.|0.87578	.|0.998;0.995;0.995;0.995;0.995;0.984;0.993	.|T	.|0.34625	.|-0.9821	.|10	.|0.48119	.|T	.|0.1	.|-13.0691	5.2732|5.2732	0.15636|0.15636	0.0823:0.1408:0.6319:0.1449|0.0823:0.1408:0.6319:0.1449	.|.	.|479;133;111;104;104;162;479	.|P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.|.;.;.;.;.;.;TAU_HUMAN	.|H	-1|479;479;162;133;162;68;111;104;104;133;479	.|ENSP00000340820:Q479H;ENSP00000262410:Q479H;ENSP00000303214:Q162H;ENSP00000340438:Q133H;ENSP00000443028:Q162H;ENSP00000302706:Q68H;ENSP00000408975:Q104H;ENSP00000334886:Q104H;ENSP00000413056:Q133H;ENSP00000410838:Q479H	.|ENSP00000262410:Q479H	.|Q	+|+	.|3	.|2	MAPT|MAPT	41424719|41424719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	0.780000|0.780000	0.26760|0.26760	1.076000|1.076000	0.40961|0.40961	0.561000|0.561000	0.74099|0.74099	.|CAG		0.542	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		37	94	0	0	0	0	37	94				
DLX4	1748	broad.mit.edu	37	17	48050507	48050507	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:48050507C>A	ENST00000240306.3	+	2	649	c.354C>A	c.(352-354)cgC>cgA	p.R118R	DLX4_ENST00000503410.1_3'UTR|DLX4_ENST00000411890.2_Silent_p.R46R	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	118					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	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(4)|lung(3)	10						AAAAGCTCCGCAAGCCGAGGA	0.677																																						uc002ipv.2		NA																	0					0						c.(352-354)CGC>CGA		distal-less homeobox 4 isoform a							29.0	34.0	32.0					17																	48050507		2203	4299	6502	SO:0001819	synonymous_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050507C>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.354C>A	17.37:g.48050507C>A						DLX4_uc002ipw.2_Silent_p.R46R	p.R118R	NM_138281	NP_612138	Q92988	DLX4_HUMAN			2	625	+			118			Homeobox.		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	c.354C>A	CCDS11555.1																																																																																				0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			4	24	1	0	1.58e-08	1.93e-08	4	24				
OR4D2	124538	broad.mit.edu	37	17	56247544	56247544	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:56247544C>T	ENST00000545221.1	+	1	528	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	176						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(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTTGGATAACTTCTACTGTG	0.547																																						uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(526-528)AAC>AAT		olfactory receptor, family 4, subfamily D,							161.0	143.0	149.0					17																	56247544		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247544C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.528C>T	17.37:g.56247544C>T							p.N176N	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	528	+			176			Extracellular (Potential).		Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.528C>T	CCDS32688.1																																																																																				0.547	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			48	99	0	0	0	0	48	99				
C17orf82	388407	broad.mit.edu	37	17	59489603	59489603	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:59489603C>T	ENST00000335108.2	+	1	492	c.267C>T	c.(265-267)ccC>ccT	p.P89P	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	89										cervix(1)|lung(1)	2						GGCACCCTCCCGGGAGCGCCT	0.721											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002izh.1		NA																	0					0						c.(265-267)CCC>CCT		hypothetical protein LOC388407							7.0	9.0	8.0					17																	59489603		2117	4227	6344	SO:0001819	synonymous_variant	388407							g.chr17:59489603C>T	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.267C>T	17.37:g.59489603C>T			OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1038		p.P89P	NM_203425	NP_982249	Q86X59	CQ082_HUMAN			1	492	+			89						Silent	SNP	ENST00000335108.2	37	c.267C>T	CCDS11628.1																																																																																				0.721	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		7	7	0	0	0	0	7	7				
CSH1	1442	broad.mit.edu	37	17	61972895	61972895	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:61972895A>T	ENST00000316193.8	-	4	535	c.394T>A	c.(394-396)Tcg>Acg	p.S132T	CSH1_ENST00000329882.8_Missense_Mutation_p.S132T|CSH1_ENST00000453363.3_Intron	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	132						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCGCTGTCCGAGGTGTCATAC	0.592									Russell-Silver syndrome																													uc002jcs.1		NA																	0				skin(1)	1						c.(394-396)TCG>ACG		chorionic somatomammotropin hormone 1 isoform 1							35.0	35.0	35.0					17																	61972895		2190	4278	6468	SO:0001583	missense	1442	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972895A>T	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.394T>A	17.37:g.61972895A>T	ENSP00000316416:p.Ser132Thr					CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Missense_Mutation_p.S93T|CSH1_uc002jcq.1_Missense_Mutation_p.S93T|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.S98T|CSH1_uc002jcu.1_Missense_Mutation_p.S132T|CSH1_uc002jcv.1_Intron|CSH1_uc002jcw.2_Missense_Mutation_p.S132T|CSH1_uc002jcy.2_3'UTR	p.S132T	NM_001317	NP_001308	P01243	CSH_HUMAN			4	510	-			132					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.394T>A	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	a	11.70	1.716584	0.30413	.	.	ENSG00000136488	ENST00000329882;ENST00000316193	D;D	0.89875	-2.58;-2.58	2.56	2.56	0.30785	.	0.153023	0.45126	D	0.000387	D	0.93533	0.7936	M	0.92077	3.27	0.80722	D	1	P;B;B	0.44281	0.831;0.427;0.312	P;P;B	0.55222	0.771;0.506;0.329	D	0.93323	0.6694	10	0.72032	D	0.01	.	8.5892	0.33677	1.0:0.0:0.0:0.0	.	132;132;82	A6NFB4;Q6PF11;P78451	.;.;.	T	132	ENSP00000333268:S132T;ENSP00000316416:S132T	ENSP00000316416:S132T	S	-	1	0	CSH1	59326627	1.000000	0.71417	0.236000	0.24074	0.002000	0.02628	3.412000	0.52679	1.167000	0.42706	0.260000	0.18958	TCG		0.592	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		17	31	0	0	0	0	17	31				
ABCA6	23460	broad.mit.edu	37	17	67136824	67136824	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:67136824G>T	ENST00000284425.2	-	2	195	c.21C>A	c.(19-21)agC>agA	p.S7R	ABCA6_ENST00000590645.1_Missense_Mutation_p.S7R	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	7					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)					GCTGATACACGCTTTTCTGTT	0.333																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(19-21)AGC>AGA		ATP-binding cassette, sub-family A, member 6							146.0	147.0	147.0					17																	67136824		2203	4298	6501	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67136824G>T	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.21C>A	17.37:g.67136824G>T	ENSP00000284425:p.Ser7Arg					ABCA6_uc002jhy.2_Missense_Mutation_p.S5R	p.S7R	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			2	196	-	Breast(10;5.65e-12)		7					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.21C>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763054	0.49574	.	.	ENSG00000154262	ENST00000284425	D	0.86694	-2.16	5.32	0.14	0.14804	.	0.533183	0.15816	N	0.243242	D	0.89005	0.6592	L	0.53249	1.67	0.09310	N	1	D;B	0.89917	1.0;0.057	D;B	0.70935	0.971;0.134	T	0.79009	-0.1978	10	0.48119	T	0.1	.	7.3536	0.26706	0.5261:0.0:0.4739:0.0	.	7;7	Q8N139-3;Q8N139	.;ABCA6_HUMAN	R	7	ENSP00000284425:S7R	ENSP00000284425:S7R	S	-	3	2	ABCA6	64648419	0.000000	0.05858	0.004000	0.12327	0.846000	0.48090	-0.149000	0.10204	0.111000	0.17947	-0.339000	0.08088	AGC		0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		23	52	1	0	7.88e-14	1.04e-13	23	52				
C17orf77	146723	broad.mit.edu	37	17	72588218	72588218	+	Silent	SNP	A	A	T	rs370110809		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:72588218A>T	ENST00000392620.1	+	3	395	c.33A>T	c.(31-33)acA>acT	p.T11T	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Silent_p.T11T	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	11						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTTCCCTGACATGTCTCCTTC	0.478																																						uc002jla.1		NA																	0					0						c.(31-33)ACA>ACT		hypothetical protein LOC146723							110.0	110.0	110.0					17																	72588218		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588218A>T		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.33A>T	17.37:g.72588218A>T						CD300LD_uc002jkz.2_Intron	p.T11T	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	395	+			11						Silent	SNP	ENST00000392620.1	37	c.33A>T	CCDS32721.1																																																																																				0.478	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		48	92	0	0	0	0	48	92				
DLGAP1	9229	broad.mit.edu	37	18	3879384	3879384	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879384C>G	ENST00000315677.3	-	4	1280	c.685G>C	c.(685-687)Gac>Cac	p.D229H	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D229H|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D229H|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D229H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	229					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCGAGCGGTCGGGGCACCTG	0.647																																						uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(685-687)GAC>CAC		discs large homolog-associated protein 1 isoform							71.0	75.0	74.0					18																	3879384		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879384C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.685G>C	18.37:g.3879384C>G	ENSP00000316377:p.Asp229His					DLGAP1_uc010wyz.1_Missense_Mutation_p.D229H|DLGAP1_uc002kmk.2_Missense_Mutation_p.D229H|uc002kml.1_Intron	p.D229H	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	752	-		Colorectal(8;0.0257)	229					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.685G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666246	0.88251	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.12879	2.65;2.64	5.51	5.51	0.81932	.	0.048416	0.85682	D	0.000000	T	0.31295	0.0792	L	0.47716	1.5	0.80722	D	1	D;D;P	0.65815	0.992;0.995;0.611	P;D;B	0.63113	0.817;0.911;0.158	T	0.00660	-1.1622	10	0.59425	D	0.04	-28.8535	19.4162	0.94700	0.0:1.0:0.0:0.0	.	229;229;229	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	H	229	ENSP00000316377:D229H;ENSP00000445973:D229H	ENSP00000316377:D229H	D	-	1	0	DLGAP1	3869384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.366000	0.79548	2.605000	0.88082	0.655000	0.94253	GAC		0.647	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			152	187	0	0	0	0	152	187				
DLGAP1	9229	broad.mit.edu	37	18	3879506	3879506	+	Missense_Mutation	SNP	C	C	G	rs371186913		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:3879506C>G	ENST00000315677.3	-	4	1158	c.563G>C	c.(562-564)cGc>cCc	p.R188P	DLGAP1_ENST00000581527.1_Missense_Mutation_p.R188P|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R188P|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R188P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGCTCCGCGCGCCGCTCCTT	0.711																																						uc002kmf.2		NA																	0		p.R188C(1)		ovary(2)|pancreas(1)|skin(1)	4						c.(562-564)CGC>CCC		discs large homolog-associated protein 1 isoform		C	PRO/ARG,PRO/ARG	0,4404		0,0,2202	53.0	63.0	60.0		563,563	5.5	0.9	18		60	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	DLGAP1	NM_001242761.1,NM_004746.3	103,103	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	188/930,188/978	3879506	1,12999	2202	4298	6500	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879506C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.563G>C	18.37:g.3879506C>G	ENSP00000316377:p.Arg188Pro					DLGAP1_uc010wyz.1_Missense_Mutation_p.R188P|DLGAP1_uc002kmk.2_Missense_Mutation_p.R188P|uc002kml.1_Intron	p.R188P	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	630	-		Colorectal(8;0.0257)	188					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.563G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691272	0.68271	0.0	1.16E-4	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18338	2.22;2.22	5.51	5.51	0.81932	.	0.262401	0.39146	N	0.001455	T	0.28632	0.0709	L	0.29908	0.895	0.46586	D	0.999116	D;D;P	0.63046	0.986;0.992;0.8	P;P;B	0.58210	0.689;0.835;0.258	T	0.01401	-1.1364	10	0.66056	D	0.02	-16.2908	19.4162	0.94700	0.0:1.0:0.0:0.0	.	188;188;188	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	P	188	ENSP00000316377:R188P;ENSP00000445973:R188P	ENSP00000316377:R188P	R	-	2	0	DLGAP1	3869506	1.000000	0.71417	0.893000	0.35052	0.776000	0.43924	4.996000	0.63914	2.605000	0.88082	0.655000	0.94253	CGC		0.711	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			53	258	0	0	0	0	53	258				
ASXL3	80816	broad.mit.edu	37	18	31224903	31224903	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:31224903C>T	ENST00000269197.5	+	3	183	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	61					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCACACTAACACTCGAATAG	0.393																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(181-183)AAC>AAT		additional sex combs like 3							101.0	89.0	93.0					18																	31224903		1863	4111	5974	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31224903C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.183C>T	18.37:g.31224903C>T						ASXL3_uc002kxq.2_5'UTR	p.N61N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			3	238	+			61					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.183C>T	CCDS45847.1																																																																																				0.393	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	8	0	0	0	0	3	8				
SETBP1	26040	broad.mit.edu	37	18	42532199	42532199	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:42532199A>G	ENST00000282030.5	+	4	3190	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	965						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)		ACCAAGTTCCAAGTGTTCAGA	0.473									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2893-2895)CAA>CGA		SET binding protein 1 isoform a							86.0	84.0	84.0					18																	42532199		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532199A>G	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.2894A>G	18.37:g.42532199A>G	ENSP00000282030:p.Gln965Arg						p.Q965R	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3190	+			965					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2894A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140291	0.56936	.	.	ENSG00000152217	ENST00000282030	D	0.88277	-2.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	N	0.19112	0.55	0.41886	D	0.990346	D	0.67145	0.996	D	0.75484	0.986	D	0.91786	0.5439	10	0.59425	D	0.04	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	965	Q9Y6X0	SETBP_HUMAN	R	965	ENSP00000282030:Q965R	ENSP00000282030:Q965R	Q	+	2	0	SETBP1	40786197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.545000	0.82128	2.266000	0.75297	0.533000	0.62120	CAA		0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		52	58	0	0	0	0	52	58				
SLC14A1	6563	broad.mit.edu	37	18	43316445	43316445	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:43316445T>C	ENST00000321925.4	+	6	727	c.495T>C	c.(493-495)aaT>aaC	p.N165N	SLC14A1_ENST00000402943.2_Silent_p.N60N|SLC14A1_ENST00000535474.1_Silent_p.N33N|SLC14A1_ENST00000415427.3_Silent_p.N221N|SLC14A1_ENST00000586142.1_Silent_p.N165N|SLC14A1_ENST00000502059.2_Silent_p.N57N|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000436407.3_Silent_p.N221N|SLC14A1_ENST00000589700.1_Silent_p.N165N	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	165					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTGCATTGAATTCCATGCTCA	0.458																																						uc010xcn.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(493-495)AAT>AAC		solute carrier family 14 (urea transporter),							137.0	127.0	130.0					18																	43316445		2203	4300	6503	SO:0001819	synonymous_variant	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43316445T>C	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.495T>C	18.37:g.43316445T>C						SLC14A1_uc010dnk.2_Silent_p.N221N|SLC14A1_uc002lbf.3_Silent_p.N165N|SLC14A1_uc002lbg.3_Intron|SLC14A1_uc010xco.1_Silent_p.N60N|SLC14A1_uc002lbh.3_Silent_p.N57N|SLC14A1_uc002lbi.3_Silent_p.N33N|SLC14A1_uc002lbj.3_Silent_p.N221N|SLC14A1_uc002lbk.3_Silent_p.N165N	p.N165N	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			7	814	+			165					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Silent	SNP	ENST00000321925.4	37	c.495T>C	CCDS11925.1																																																																																				0.458	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		34	114	0	0	0	0	34	114				
TCEB3C	162699	broad.mit.edu	37	18	44555173	44555173	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:44555173G>A	ENST00000330682.2	-	1	1276	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	347	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGTCCGGATTGTTCCTAGGCA	0.647																																						uc010xdb.1		NA																	0					0						c.(1039-1041)AAC>AAT		transcription elongation factor B polypeptide							47.0	44.0	45.0					18																	44555173		1654	3333	4987	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555173G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1041C>T	18.37:g.44555173G>A						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.N347N	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1277	-			347			Activation domain (By similarity).			Silent	SNP	ENST00000330682.2	37	c.1041C>T	CCDS11931.1																																																																																				0.647	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		29	607	0	0	0	0	29	607				
MBD1	4152	broad.mit.edu	37	18	47806252	47806252	+	Splice_Site	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:47806252C>T	ENST00000591416.1	-	2	542		c.e2+1		MBD1_ENST00000398488.1_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000398495.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000591535.1_Splice_Site|MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000590208.1_Splice_Site|MBD1_ENST00000588937.1_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000398493.1_Splice_Site			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCACCCAGTACCTCTGGTAAT	0.537																																						uc010dow.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e2+1		methyl-CpG binding domain protein 1 isoform 1							52.0	49.0	50.0					18																	47806252		2203	4300	6503	SO:0001630	splice_region_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806252C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.110+1G>A	18.37:g.47806252C>T						MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Splice_Site_p.S37_splice|MBD1_uc010xdi.1_Splice_Site_p.S63_splice|MBD1_uc002leh.3_Splice_Site_p.S37_splice|MBD1_uc002len.2_Splice_Site_p.S37_splice|MBD1_uc002lei.3_Splice_Site_p.S37_splice|MBD1_uc002lej.3_Splice_Site_p.S37_splice|MBD1_uc002lek.3_Splice_Site_p.S37_splice|MBD1_uc002lel.3_Splice_Site_p.S37_splice|MBD1_uc002lem.3_Splice_Site_p.S37_splice|MBD1_uc010xdj.1_Splice_Site_p.S37_splice|MBD1_uc010xdk.1_Splice_Site_p.S37_splice|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Splice_Site_p.S37_splice	p.S37_splice	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			2	547	-								A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Splice_Site	SNP	ENST00000591416.1	37	c.110_splice	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026501	0.54683	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	.	.	.	4.35	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.195	0.31392	0.0:0.7439:0.1592:0.0969	.	.	.	.	.	-1	.	.	.	-	.	.	MBD1	46060250	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.203000	0.58453	0.963000	0.38082	0.467000	0.42956	.		0.537	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	Intron	16	50	0	0	0	0	16	50				
MRO	83876	broad.mit.edu	37	18	48331580	48331580	+	Missense_Mutation	SNP	C	C	T	rs143359256	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:48331580C>T	ENST00000428869.2	-	6	631	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	MRO_ENST00000398439.3_Missense_Mutation_p.G125S|MRO_ENST00000436348.2_Missense_Mutation_p.G139S|MRO_ENST00000256425.2_Missense_Mutation_p.G125S|MRO_ENST00000588444.1_Missense_Mutation_p.G125S|MRO_ENST00000431965.2_Missense_Mutation_p.G139S|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	125						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GAACCCAAACCTTTCCCCTGG	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.0					uc002lew.3		NA																	0					0						c.(373-375)GGT>AGT		maestro isoform a							126.0	113.0	117.0					18																	48331580		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48331580C>T	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.373G>A	18.37:g.48331580C>T	ENSP00000409509:p.Gly125Ser					MRO_uc010xdn.1_Missense_Mutation_p.G125S|MRO_uc010dpa.2_Missense_Mutation_p.G139S|MRO_uc010dpb.2_Missense_Mutation_p.G139S|MRO_uc010dpc.2_Missense_Mutation_p.G125S|MRO_uc002lex.3_Missense_Mutation_p.G125S	p.G125S	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	5	667	-		Colorectal(6;0.0596)	125					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.373G>A	CCDS11947.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.30	1.597433	0.28445	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.64260	-0.09;2.21;2.73;2.73;2.73	5.71	1.77	0.24775	Armadillo-like helical (1);Armadillo-type fold (1);	0.392304	0.24722	N	0.036129	T	0.41766	0.1173	L	0.36672	1.1	0.26458	N	0.975494	B;B;B;B	0.25850	0.059;0.136;0.107;0.029	B;B;B;B	0.26310	0.021;0.068;0.023;0.017	T	0.23190	-1.0195	10	0.08837	T	0.75	-18.2181	4.0948	0.09986	0.1606:0.567:0.0:0.2724	.	125;139;139;125	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	S	139;139;125;125;125	ENSP00000397900:G139S;ENSP00000392614:G139S;ENSP00000409509:G125S;ENSP00000381465:G125S;ENSP00000256425:G125S	ENSP00000256425:G125S	G	-	1	0	MRO	46585578	0.723000	0.28027	0.225000	0.23894	0.412000	0.31113	1.052000	0.30429	0.034000	0.15491	0.557000	0.71058	GGT		0.433	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		50	45	0	0	0	0	50	45				
DCC	1630	broad.mit.edu	37	18	50450211	50450211	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:50450211G>A	ENST00000442544.2	+	4	1448	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	DCC_ENST00000412726.1_Missense_Mutation_p.E126K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	278	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACGAGGCGAGGAAGTCATCCA	0.368																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(832-834)GAA>AAA		netrin receptor DCC precursor							117.0	96.0	103.0					18																	50450211		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450211G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.832G>A	18.37:g.50450211G>A	ENSP00000389140:p.Glu278Lys					DCC_uc010xdr.1_Missense_Mutation_p.E126K	p.E278K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1419	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	278			Extracellular (Potential).|Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.832G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962489	0.53400	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T;T	0.66638	-0.22;1.66;-0.22	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071022	0.56097	D	0.000039	T	0.50446	0.1616	N	0.11789	0.175	0.80722	D	1	B;B	0.31893	0.022;0.345	B;B	0.31390	0.013;0.129	T	0.47407	-0.9120	10	0.19147	T	0.46	.	18.7545	0.91827	0.0:0.0:1.0:0.0	.	126;278	E7EQM8;P43146	.;DCC_HUMAN	K	278;211;126	ENSP00000389140:E278K;ENSP00000304146:E211K;ENSP00000397322:E126K	ENSP00000304146:E211K	E	+	1	0	DCC	48704209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.887000	0.75616	2.728000	0.93425	0.650000	0.86243	GAA		0.368	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		41	48	0	0	0	0	41	48				
CDH19	28513	broad.mit.edu	37	18	64239255	64239255	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:64239255T>C	ENST00000540086.1	-	2	433	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	CDH19_ENST00000262150.2_Missense_Mutation_p.I63V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACCTGGCCGATGTGATGACTA	0.378																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(187-189)ATC>GTC		cadherin 19, type 2 preproprotein							81.0	76.0	78.0					18																	64239255		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239255T>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.187A>G	18.37:g.64239255T>C	ENSP00000439593:p.Ile63Val					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.I63V|CDH19_uc002lkd.2_Missense_Mutation_p.I63V	p.I63V	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			2	325	-		Esophageal squamous(42;0.0132)	63			Cadherin 1.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.187A>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	6.368	0.436088	0.12104	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.42131	0.98;0.98	5.83	-2.89	0.05665	Cadherin (2);Cadherin-like (1);	0.327934	0.31821	N	0.007013	T	0.19927	0.0479	N	0.13299	0.325	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.004;0.005	T	0.29882	-0.9997	10	0.02654	T	1	.	15.107	0.72329	0.0:0.5215:0.0:0.4785	.	63;63	F5H1K0;Q9H159	.;CAD19_HUMAN	V	63;63;8	ENSP00000262150:I63V;ENSP00000439593:I63V	ENSP00000262150:I63V	I	-	1	0	CDH19	62390235	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.367000	0.07553	-1.020000	0.03354	-1.937000	0.00501	ATC		0.378	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		17	38	0	0	0	0	17	38				
CNDP1	84735	broad.mit.edu	37	18	72247448	72247448	+	Missense_Mutation	SNP	C	C	G	rs144587048		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:72247448C>G	ENST00000358821.3	+	10	1478	c.1250C>G	c.(1249-1251)cCg>cGg	p.P417R	CNDP1_ENST00000582365.1_Missense_Mutation_p.P374R	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGACTACACCCGTGGATTGCA	0.443																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	0					0						c.(1249-1251)CCG>CGG		carnosinase 1 precursor							123.0	115.0	118.0					18																	72247448		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247448C>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1250C>G	18.37:g.72247448C>G	ENSP00000351682:p.Pro417Arg					CNDP1_uc002lls.2_Missense_Mutation_p.P220R	p.P417R	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1461	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	417					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1250C>G	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558680	0.45590	.	.	ENSG00000150656	ENST00000358821	T	0.18338	2.22	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72200	-0.4362	10	0.62326	D	0.03	-23.0963	17.1817	0.86857	0.0:1.0:0.0:0.0	.	417	Q96KN2	CNDP1_HUMAN	R	417	ENSP00000351682:P417R	ENSP00000351682:P417R	P	+	2	0	CNDP1	70398428	0.996000	0.38824	0.059000	0.19551	0.004000	0.04260	4.841000	0.62824	2.342000	0.79632	0.563000	0.77884	CCG		0.443	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		12	36	0	0	0	0	12	36				
NFATC1	4772	broad.mit.edu	37	18	77170505	77170505	+	Missense_Mutation	SNP	C	C	T	rs143045693	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr18:77170505C>T	ENST00000427363.2	+	2	230	c.230C>T	c.(229-231)cCg>cTg	p.P77L	NFATC1_ENST00000591814.1_Missense_Mutation_p.P77L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P64L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P77L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P64L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P64L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P64L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P77L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P77L|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	77					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ACCTCCACACCGGGCATCATC	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		13489	0.0		0.002	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(229-231)CCG>CTG		nuclear factor of activated T-cells, cytosolic		C	LEU/PRO,LEU/PRO,,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	50.0	56.0	54.0		230,191,,191,230	4.4	0.0	18	dbSNP_134	54	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	98,98,,98,98	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign,,benign,benign	77/826,64/931,,64/813,77/717	77170505	4,13000	2203	4299	6502	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170505C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.230C>T	18.37:g.77170505C>T	ENSP00000389377:p.Pro77Leu					NFATC1_uc002lnc.1_Missense_Mutation_p.P77L|NFATC1_uc010xff.1_Missense_Mutation_p.P77L|NFATC1_uc002lnd.2_Missense_Mutation_p.P77L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P77L|NFATC1_uc010xfi.1_Missense_Mutation_p.P64L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P64L|NFATC1_uc002lng.2_Missense_Mutation_p.P64L|NFATC1_uc010xfk.1_Missense_Mutation_p.P64L	p.P77L	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	683	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	77					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.230C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.8	4.334065	0.81801	2.27E-4	3.49E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.39229	1.09;1.09;1.09	4.39	4.39	0.52855	.	0.400014	0.28146	N	0.016430	T	0.46386	0.1390	M	0.61703	1.905	0.80722	D	1	P;P;P;D;D;P;P	0.55605	0.904;0.904;0.946;0.972;0.972;0.773;0.946	B;B;B;B;B;B;B	0.43916	0.344;0.23;0.344;0.436;0.436;0.121;0.436	T	0.57894	-0.7732	10	0.87932	D	0	-17.9221	17.1373	0.86743	0.0:1.0:0.0:0.0	.	64;64;77;77;77;64;77	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	77;77;77;64;64;41	ENSP00000253506:P77L;ENSP00000442435:P77L;ENSP00000327850:P64L	ENSP00000253506:P77L	P	+	2	0	NFATC1	75271493	0.997000	0.39634	0.025000	0.17156	0.028000	0.11728	6.807000	0.75201	2.267000	0.75376	0.561000	0.74099	CCG		0.692	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		32	37	0	0	0	0	32	37				
ELANE	1991	broad.mit.edu	37	19	852883	852883	+	Silent	SNP	G	G	A	rs202147367		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:852883G>A	ENST00000590230.1	+	3	216	c.75G>A	c.(73-75)gcG>gcA	p.A25A	ELANE_ENST00000263621.1_Silent_p.A25A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	25			A -> V (in SCN1). {ECO:0000269|PubMed:20220065, ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGCACCGCGCTGGCCTCGG	0.741																																						uc002lqb.2		NA																	0				pancreas(1)	1						c.(73-75)GCG>GCA		neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						9.0	12.0	11.0					19																	852883		2073	4070	6143	SO:0001819	synonymous_variant	1991	Kostmann_syndrome			cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:852883G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.75G>A	19.37:g.852883G>A							p.A25A	NM_001972	NP_001963	P08246	ELNE_HUMAN			2	113	+			25		A -> V (in SCN1).			P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.75G>A	CCDS12045.1																																																																																				0.741	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		11	8	0	0	0	0	11	8				
APC2	10297	broad.mit.edu	37	19	1466497	1466497	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:1466497C>T	ENST00000535453.1	+	14	4910	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	APC2_ENST00000233607.2_Missense_Mutation_p.S1066L|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.S792L			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGGCCACTCTCGCTGTCCCGA	0.682																																						uc002lsr.1		NA																	0				breast(3)|pancreas(1)	4						c.(3196-3198)TCG>TTG		adenomatosis polyposis coli 2							7.0	10.0	9.0					19																	1466497		2035	4059	6094	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466497C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3197C>T	19.37:g.1466497C>T	ENSP00000442954:p.Ser1066Leu					APC2_uc002lss.1_Missense_Mutation_p.S648L|APC2_uc002lst.1_Missense_Mutation_p.S1066L|APC2_uc002lsu.1_Missense_Mutation_p.S1065L|C19orf25_uc010xgn.1_Intron	p.S1066L	NM_005883	NP_005874	O95996	APC2_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)	15	3405	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1066			Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.3197C>T	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	9.260	1.043043	0.19748	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.76448	-1.02;-1.02;-1.02	4.11	1.85	0.25348	.	0.173070	0.52532	N	0.000068	T	0.67961	0.2949	L	0.44542	1.39	0.80722	D	1	B;B	0.31026	0.259;0.304	B;B	0.26614	0.042;0.071	T	0.65784	-0.6084	10	0.66056	D	0.02	-17.8329	11.9927	0.53184	0.0:0.4873:0.5127:0.0	.	1065;1066	O95996-3;O95996	.;APC2_HUMAN	L	1066;792;1066	ENSP00000233607:S1066L;ENSP00000238483:S792L;ENSP00000442954:S1066L	ENSP00000233607:S1066L	S	+	2	0	APC2	1417497	1.000000	0.71417	0.987000	0.45799	0.036000	0.12997	5.579000	0.67457	0.352000	0.24053	0.462000	0.41574	TCG		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		5	10	0	0	0	0	5	10				
MUC16	94025	broad.mit.edu	37	19	9070007	9070007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9070007C>G	ENST00000397910.4	-	3	17642	c.17439G>C	c.(17437-17439)gaG>gaC	p.E5813D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5815	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						TCCTGGAGACCTCAGTAGTAG	0.493																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17437-17439)GAG>GAC		mucin 16							163.0	157.0	159.0					19																	9070007		1968	4158	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070007C>G	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.17439G>C	19.37:g.9070007C>G	ENSP00000381008:p.Glu5813Asp						p.E5813D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17643	-			5815			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17439G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.943	0.175125	0.09391	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.88	0.826	0.18829	.	.	.	.	.	T	0.04815	0.0130	L	0.46157	1.445	.	.	.	P	0.50710	0.938	P	0.50754	0.649	T	0.31110	-0.9955	8	0.87932	D	0	.	4.1416	0.10196	0.0:0.7855:0.0:0.2145	.	5813	B5ME49	.	D	5813	ENSP00000381008:E5813D	ENSP00000381008:E5813D	E	-	3	2	MUC16	8931007	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.089000	0.03376	0.366000	0.24427	0.456000	0.33151	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	75	0	0	0	0	21	75				
MUC16	94025	broad.mit.edu	37	19	9075389	9075389	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:9075389G>A	ENST00000397910.4	-	3	12260	c.12057C>T	c.(12055-12057)gaC>gaT	p.D4019D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4021	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						AAGGGCTGACGTCCCTCAGTT	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12055-12057)GAC>GAT		mucin 16							95.0	92.0	93.0					19																	9075389		2066	4191	6257	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075389G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12057C>T	19.37:g.9075389G>A							p.D4019D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12261	-			4021			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12057C>T	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	56	0	0	0	0	27	56				
DNM2	1785	broad.mit.edu	37	19	10893766	10893766	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:10893766C>T	ENST00000355667.6	+	6	899	c.819C>T	c.(817-819)ggC>ggT	p.G273G	DNM2_ENST00000359692.6_Silent_p.G273G|DNM2_ENST00000314646.5_Silent_p.G273G|DNM2_ENST00000585892.1_Silent_p.G273G|DNM2_ENST00000389253.4_Silent_p.G273G|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000408974.4_Silent_p.G273G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	273	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCGCATGGGCACGCCACATC	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(817-819)GGC>GGT		dynamin 2 isoform 2							76.0	58.0	64.0					19																	10893766		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893766C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.819C>T	19.37:g.10893766C>T						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.G273G|DNM2_uc002mpv.1_Silent_p.G273G|DNM2_uc002mpu.1_Silent_p.G273G|DNM2_uc010dxl.1_Silent_p.G273G|DNM2_uc002mpw.2_Silent_p.G6G	p.G273G	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	983	+			273					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.819C>T	CCDS45968.1																																																																																				0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		15	47	0	0	0	0	15	47				
ZNF443	10224	broad.mit.edu	37	19	12542408	12542408	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:12542408C>G	ENST00000301547.5	-	4	775	c.578G>C	c.(577-579)gGa>gCa	p.G193A	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	193					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGTCCATCTCCACGCTGCAC	0.418																																						uc002mtu.2		NA																	0				pancreas(1)	1						c.(577-579)GGA>GCA		zinc finger protein 443							78.0	77.0	77.0					19																	12542408		2202	4297	6499	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542408C>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.578G>C	19.37:g.12542408C>G	ENSP00000301547:p.Gly193Ala						p.G193A	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	776	-			193						Missense_Mutation	SNP	ENST00000301547.5	37	c.578G>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311592	0.40895	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.26373	1.74	1.26	0.158	0.14942	Zinc finger, C2H2 (1);	.	.	.	.	T	0.44787	0.1310	M	0.78456	2.415	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.21381	-1.0247	9	0.87932	D	0	.	4.9716	0.14119	0.0:0.6332:0.0:0.3668	.	193	Q9Y2A4	ZN443_HUMAN	A	193	ENSP00000301547:G193A	ENSP00000301547:G193A	G	-	2	0	ZNF443	12403408	0.005000	0.15991	0.001000	0.08648	0.493000	0.33554	1.061000	0.30542	0.106000	0.17784	0.461000	0.40582	GGA		0.418	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		36	93	0	0	0	0	36	93				
CCDC130	81576	broad.mit.edu	37	19	13869957	13869957	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:13869957G>T	ENST00000586600.1	+	9	947	c.444G>T	c.(442-444)cgG>cgT	p.R148R	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.R148R			P13994	CC130_HUMAN	coiled-coil domain containing 130	148					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCATGTTCCGGCTGGAGCATG	0.652																																						uc002mxb.1		NA																	0					0						c.(442-444)CGG>CGT		coiled-coil domain containing 130							29.0	29.0	29.0					19																	13869957		2203	4299	6502	SO:0001819	synonymous_variant	81576				response to virus		protein binding	g.chr19:13869957G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.444G>T	19.37:g.13869957G>T						CCDC130_uc010xnf.1_3'UTR|CCDC130_uc002mxc.1_Silent_p.R148R|CCDC130_uc002mxd.1_Silent_p.R3R|CCDC130_uc010dzf.1_Silent_p.R42R	p.R148R	NM_030818	NP_110445	P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		9	947	+			148					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.444G>T	CCDS12296.1																																																																																				0.652	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		4	10	1	0	0.00909568	0.00946794	4	10				
RFX1	5989	broad.mit.edu	37	19	14104570	14104570	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:14104570G>A	ENST00000254325.4	-	2	320	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	29					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tggcggtggcggctggggctg	0.711																																						uc002mxv.2		NA																	0				lung(1)|pancreas(1)	2						c.(85-87)CCG>CTG		regulatory factor X1							13.0	18.0	16.0					19																	14104570		1861	3911	5772	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14104570G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.86C>T	19.37:g.14104570G>A	ENSP00000254325:p.Pro29Leu					RFX1_uc010dzi.2_Missense_Mutation_p.P29L	p.P29L	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		2	358	-			29						Missense_Mutation	SNP	ENST00000254325.4	37	c.86C>T	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807531	0.31961	.	.	ENSG00000132005	ENST00000254325	T	0.61859	0.07	3.98	3.98	0.46160	.	0.825513	0.09996	U	0.729103	T	0.52773	0.1755	N	0.14661	0.345	0.40055	D	0.975825	D	0.69078	0.997	P	0.52066	0.689	T	0.55915	-0.8065	10	0.59425	D	0.04	.	13.3642	0.60674	0.0:0.0:1.0:0.0	.	29	P22670	RFX1_HUMAN	L	29	ENSP00000254325:P29L	ENSP00000254325:P29L	P	-	2	0	RFX1	13965570	0.986000	0.35501	0.208000	0.23602	0.277000	0.26821	2.500000	0.45381	1.909000	0.55274	0.655000	0.94253	CCG		0.711	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		5	15	0	0	0	0	5	15				
FCHO1	23149	broad.mit.edu	37	19	17887482	17887482	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:17887482C>G	ENST00000596536.1	+	18	1529	c.1246C>G	c.(1246-1248)Ccc>Gcc	p.P416A	FCHO1_ENST00000594202.1_Missense_Mutation_p.P416A|FCHO1_ENST00000389133.4_Missense_Mutation_p.P416A|FCHO1_ENST00000595033.1_Missense_Mutation_p.P366A|FCHO1_ENST00000252771.7_Missense_Mutation_p.P416A|FCHO1_ENST00000596951.1_Missense_Mutation_p.P416A|FCHO1_ENST00000600676.1_Missense_Mutation_p.P416A|FCHO1_ENST00000539407.1_Missense_Mutation_p.P416A|FCHO1_ENST00000597512.1_Missense_Mutation_p.P423A	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	416	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCGGTCTGCCCCCAGAACCAG	0.637																																						uc010ebb.2		NA																	0				breast(1)	1						c.(1246-1248)CCC>GCC		FCH domain only 1 isoform b							53.0	50.0	51.0					19																	17887482		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17887482C>G	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1246C>G	19.37:g.17887482C>G	ENSP00000470731:p.Pro416Ala					FCHO1_uc002nhg.3_Missense_Mutation_p.P416A|FCHO1_uc002nhh.2_Missense_Mutation_p.P416A|FCHO1_uc010xpw.1_Missense_Mutation_p.P366A|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	p.P416A	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			17	1435	+			416					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1246C>G	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346563	0.11126	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.36340	1.26;1.26;1.26	4.67	3.56	0.40772	.	1.141530	0.06427	N	0.723354	T	0.31071	0.0785	L	0.46157	1.445	0.45452	D	0.998424	B;B	0.25667	0.131;0.114	B;B	0.24394	0.039;0.053	T	0.41716	-0.9493	10	0.35671	T	0.21	-16.9957	4.99	0.14209	0.0:0.8038:0.0:0.1962	.	416;416	O14526;O14526-2	FCHO1_HUMAN;.	A	416	ENSP00000252771:P416A;ENSP00000373785:P416A;ENSP00000437978:P416A	ENSP00000252771:P416A	P	+	1	0	FCHO1	17748482	0.936000	0.31750	0.975000	0.42487	0.295000	0.27426	2.030000	0.41108	2.137000	0.66172	0.561000	0.74099	CCC		0.637	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		13	41	0	0	0	0	13	41				
ZNF90	7643	broad.mit.edu	37	19	20229413	20229413	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:20229413C>A	ENST00000418063.2	+	4	1162	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	350					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						GCAAAGCCTTCAGGCGCTCCT	0.423																																						uc002nor.2		NA																	0				ovary(1)|skin(1)	2						c.(1048-1050)TTC>TTA		zinc finger protein 90							23.0	23.0	23.0					19																	20229413		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229413C>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.1050C>A	19.37:g.20229413C>A	ENSP00000410466:p.Phe350Leu					ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	p.F350L	NM_007138	NP_009069	Q03938	ZNF90_HUMAN			4	1189	+			350			C2H2-type 7.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1050C>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813102	0.32053	.	.	ENSG00000213988	ENST00000418063	T	0.46063	0.88	1.18	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59224	0.2178	M	0.83312	2.635	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.51293	-0.8724	8	.	.	.	.	5.3534	0.16047	0.0:0.5246:0.0:0.4754	.	350	Q03938	ZNF90_HUMAN	L	350	ENSP00000410466:F350L	.	F	+	3	2	ZNF90	20090413	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	-0.150000	0.10189	-0.850000	0.04152	-0.856000	0.03024	TTC		0.423	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		14	23	1	0	6.82e-15	9.15e-15	14	23				
ZNF430	80264	broad.mit.edu	37	19	21205625	21205625	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:21205625A>T	ENST00000261560.5	+	2	215	c.34A>T	c.(34-36)Aag>Tag	p.K12*	ZNF430_ENST00000595401.1_Nonsense_Mutation_p.K12*|ZNF430_ENST00000599548.1_Nonsense_Mutation_p.K12*	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	12					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTATCCTCTCAAGGAAGCAAG	0.448																																						uc002npj.2		NA																	0				skin(2)	2						c.(34-36)AAG>TAG		zinc finger protein 430							103.0	106.0	105.0					19																	21205625		2203	4300	6503	SO:0001587	stop_gained	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21205625A>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.34A>T	19.37:g.21205625A>T	ENSP00000261560:p.Lys12*					ZNF430_uc002npk.2_Nonsense_Mutation_p.K12*	p.K12*	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			2	144	+			12					Q86V70	Nonsense_Mutation	SNP	ENST00000261560.5	37	c.34A>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.841716	0.91197	.	.	ENSG00000118620	ENST00000261560	.	.	.	0.82	0.82	0.18793	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8741	0.09048	1.0:0.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000261560:K12X	K	+	1	0	ZNF430	20997465	0.027000	0.19231	0.002000	0.10522	0.555000	0.35460	0.507000	0.22675	0.608000	0.30000	0.260000	0.18958	AAG		0.448	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		33	74	0	0	0	0	33	74				
ZNF208	7757	broad.mit.edu	37	19	22154585	22154585	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22154585G>T	ENST00000397126.4	-	4	3399	c.3251C>A	c.(3250-3252)cCc>cAc	p.P1084H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1084					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTCCTCTCC	0.428																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2866-2868)CCC>CAC		zinc finger protein 208							112.0	115.0	114.0					19																	22154585		2134	4269	6403	SO:0001583	missense	7757							g.chr19:22154585G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3251C>A	19.37:g.22154585G>T	ENSP00000380315:p.Pro1084His					ZNF208_uc002nqo.1_Intron	p.P956H	NM_007153	NP_009084					6	3016	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2867C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	4.904	0.167914	0.09339	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17528	2.27	2.26	-2.73	0.05950	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.53006	0.715	T	0.10870	-1.0611	8	0.87932	D	0	.	4.2472	0.10677	0.2281:0.0:0.5963:0.1756	.	956	O43345	ZN208_HUMAN	H	1084;956	ENSP00000380315:P1084H	ENSP00000380315:P1084H	P	-	2	0	ZNF208	21946425	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.100000	0.15231	-0.841000	0.04200	-2.547000	0.00178	CCC		0.428	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		36	86	1	0	1.03e-13	1.37e-13	36	86				
ZNF676	163223	broad.mit.edu	37	19	22363718	22363718	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:22363718G>A	ENST00000397121.2	-	3	1118	c.801C>T	c.(799-801)acC>acT	p.T267T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	267					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)				GTGTATTAAGGGTTGAGACGC	0.388																																						uc002nqs.1		NA																	0					0						c.(799-801)ACC>ACT		zinc finger protein 676							89.0	96.0	93.0					19																	22363718		2153	4272	6425	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363718G>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.801C>T	19.37:g.22363718G>A							p.T267T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1119	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	267			C2H2-type 4.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.801C>T	CCDS42539.1																																																																																				0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		23	60	0	0	0	0	23	60				
LGI4	163175	broad.mit.edu	37	19	35617862	35617862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:35617862G>A	ENST00000310123.3	-	7	1207	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Nonsense_Mutation_p.Q230*	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	230					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTCCCCTTGGTAGGAGAAG	0.652																																						uc002nxx.2		NA																	0				pancreas(1)	1						c.(688-690)CAA>TAA		leucine-rich repeat LGI family, member 4							51.0	56.0	54.0					19																	35617862		2203	4300	6503	SO:0001587	stop_gained	163175					extracellular region		g.chr19:35617862G>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.688C>T	19.37:g.35617862G>A	ENSP00000312273:p.Gln230*					LGI4_uc002nxy.1_Nonsense_Mutation_p.Q58*|LGI4_uc002nxz.1_Nonsense_Mutation_p.Q58*	p.Q230*	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	1282	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		230			EAR 1.		B2RN53|B9EGS7|Q5M8T1	Nonsense_Mutation	SNP	ENST00000310123.3	37	c.688C>T	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245251	0.95272	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	.	.	.	3.94	2.9	0.33743	.	0.837322	0.10243	N	0.698124	.	.	.	.	.	.	0.35202	D	0.774387	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0303	0.36254	0.0:0.16:0.6789:0.1611	.	.	.	.	X	230	.	ENSP00000312273:Q230X	Q	-	1	0	LGI4	40309702	0.983000	0.35010	0.996000	0.52242	0.035000	0.12851	2.001000	0.40825	0.333000	0.23563	-2.178000	0.00318	CAA		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			15	43	0	0	0	0	15	43				
ZNF568	374900	broad.mit.edu	37	19	37488355	37488355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:37488355G>T	ENST00000455427.2	+	9	1899	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	555					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGGGAGAGACCCCA	0.448																																						uc010efg.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1720-1722)GAG>TAG		SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA;																																				SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37488355G>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1570G>T	19.37:g.37488355G>T	ENSP00000413396:p.Glu524*					ZNF568_uc010xtn.1_Nonsense_Mutation_p.E512*|uc010efi.2_Nonsense_Mutation_p.E392*|uc010efj.2_Nonsense_Mutation_p.E392*	p.E574*			Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		10	2277	+	Esophageal squamous(110;0.183)		611					B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000455427.2	37	c.1720G>T	CCDS56093.1	.	.	.	.	.	.	.	.	.	.	g	37	6.437287	0.97568	.	.	ENSG00000198453	ENST00000455427	.	.	.	3.8	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4185	0.38536	0.1087:0.0:0.8913:0.0	.	.	.	.	X	524	.	.	E	+	1	0	ZNF568	42180195	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	2.315000	0.43752	0.949000	0.37715	0.603000	0.83216	GAG		0.448	ZNF568-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457465.1	NM_198539		5	13	1	0	0.000602214	0.000648391	5	13				
RYR1	6261	broad.mit.edu	37	19	38948913	38948913	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:38948913T>A	ENST00000359596.3	+	18	2148	c.2148T>A	c.(2146-2148)gaT>gaA	p.D716E	RYR1_ENST00000360985.3_Missense_Mutation_p.D716E|RYR1_ENST00000355481.4_Missense_Mutation_p.D716E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	716	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	ACGGCTTTGATGGACTGCATC	0.632																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2146-2148)GAT>GAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						95.0	89.0	91.0					19																	38948913		2197	4288	6485	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.chr19:38948913T>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.2148T>A	19.37:g.38948913T>A	ENSP00000352608:p.Asp716Glu					RYR1_uc002oiu.2_Missense_Mutation_p.D716E	p.D716E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2278	+	all_cancers(60;7.91e-06)		716			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2148T>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.704793	0.48412	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.69306	-0.39;-0.39;-0.39	5.02	0.463	0.16700	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	D	0.83312	0.5227	M	0.93550	3.43	0.39274	D	0.964446	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.83877	0.0277	10	0.87932	D	0	.	10.1621	0.42858	0.0:0.4865:0.0:0.5135	.	716;716	P21817-2;P21817	.;RYR1_HUMAN	E	716	ENSP00000352608:D716E;ENSP00000347667:D716E;ENSP00000354254:D716E	ENSP00000347667:D716E	D	+	3	2	RYR1	43640753	0.006000	0.16342	0.997000	0.53966	0.982000	0.71751	-1.147000	0.03188	-0.144000	0.11314	-0.461000	0.05368	GAT		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	79	0	0	0	0	23	79				
DYRK1B	9149	broad.mit.edu	37	19	40317964	40317964	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:40317964C>A	ENST00000593685.1	-	8	1524	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	DYRK1B_ENST00000430012.2_Silent_p.G352G|DYRK1B_ENST00000597639.1_Silent_p.G352G|DYRK1B_ENST00000348817.3_Silent_p.G352G|DYRK1B_ENST00000323039.5_Silent_p.G352G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	352	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCAGCCACCCCCAGGCAGCC	0.652																																						uc002omj.2		NA																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(1054-1056)GGG>GGT		dual-specificity tyrosine-(Y)-phosphorylation							36.0	37.0	37.0					19																	40317964		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40317964C>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1056G>T	19.37:g.40317964C>A						DYRK1B_uc002omi.2_Silent_p.G352G|DYRK1B_uc002omk.2_Silent_p.G352G	p.G352G	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		8	1336	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		352			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1056G>T	CCDS12543.1																																																																																				0.652	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		14	23	1	0	6.72e-11	8.57e-11	14	23				
HNRNPUL1	11100	broad.mit.edu	37	19	41809959	41809959	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:41809959A>T	ENST00000392006.3	+	13	2228	c.2055A>T	c.(2053-2055)agA>agT	p.R685S	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R571S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R685S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R585S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R596S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R585S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	685	Asn-rich.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAACAACAGAGGCAGCTACA	0.612																																						uc002oqb.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2053-2055)AGA>AGT		heterogeneous nuclear ribonucleoprotein U-like 1							95.0	96.0	96.0					19																	41809959		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41809959A>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2055A>T	19.37:g.41809959A>T	ENSP00000375863:p.Arg685Ser					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R585S|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R685S|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R571S|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R585S|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R585S|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R585S|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R541S|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.R209S	p.R685S	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			13	2344	+			685			Necessary for interaction with TP53.|Asn-rich.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.2055A>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964595	0.53507	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.91407	0.82;-2.84;1.44;-2.84	5.03	2.9	0.33743	.	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	N	0.24115	0.695	0.32101	N	0.590646	P;D;D;D;D;D;D	0.76494	0.753;0.982;0.99;0.999;0.99;0.982;0.99	B;P;P;D;P;P;P	0.71414	0.362;0.514;0.782;0.973;0.844;0.61;0.708	D	0.84168	0.0432	10	0.29301	T	0.29	-7.4109	3.9515	0.09371	0.632:0.1835:0.1844:0.0	.	596;585;685;209;571;685;585	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	S	585;685;571;596	ENSP00000340857:R585S;ENSP00000375863:R685S;ENSP00000367460:R571S;ENSP00000263367:R596S	ENSP00000263367:R596S	R	+	3	2	HNRNPUL1	46501799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.255000	0.32909	0.390000	0.25115	0.454000	0.30748	AGA		0.612	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		37	56	0	0	0	0	37	56				
EXOC3L2	90332	broad.mit.edu	37	19	45731307	45731307	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:45731307G>A	ENST00000252482.3	-	3	245	c.218C>T	c.(217-219)gCa>gTa	p.A73V	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.A73V			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	73					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GATGCGGGGTGCTCGCTCTGT	0.637																																						uc002pay.1		NA																	0				ovary(1)	1						c.(217-219)GCA>GTA		exocyst complex component 3-like 2							60.0	53.0	55.0					19																	45731307		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45731307G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.218C>T	19.37:g.45731307G>A	ENSP00000252482:p.Ala73Val						p.A73V	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	4	259	-		all_neural(266;0.224)|Ovarian(192;0.231)	73					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.218C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250843	0.80135	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.13196	2.61;2.61	4.17	4.17	0.49024	.	0.065565	0.64402	D	0.000010	T	0.31358	0.0794	M	0.66939	2.045	0.28592	N	0.909613	D	0.64830	0.994	D	0.66716	0.946	T	0.03157	-1.1066	10	0.42905	T	0.14	.	12.1394	0.53989	0.0:0.0:1.0:0.0	.	73	Q2M3D2	EX3L2_HUMAN	V	73	ENSP00000252482:A73V;ENSP00000400713:A73V	ENSP00000252482:A73V	A	-	2	0	EXOC3L2	50423147	1.000000	0.71417	0.318000	0.25279	0.858000	0.48976	7.031000	0.76491	2.330000	0.79161	0.313000	0.20887	GCA		0.637	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		8	26	0	0	0	0	8	26				
ARHGAP35	2909	broad.mit.edu	37	19	47422368	47422368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:47422368G>T	ENST00000404338.3	+	1	436	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	146					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCAGGACTTTGAGCAGAAACA	0.483																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(436-438)GAG>TAG		glucocorticoid receptor DNA binding factor 1							72.0	68.0	69.0					19																	47422368		1933	4134	6067	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422368G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.436G>T	19.37:g.47422368G>T	ENSP00000385720:p.Glu146*						p.E146*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	436	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	146					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.436G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785147	0.49997	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.9	4.87	0.63330	.	0.094315	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-36.1867	14.0415	0.64678	0.0735:0.0:0.9265:0.0	.	.	.	.	X	146	.	ENSP00000324820:E146X	E	+	1	0	ARHGAP35	52114208	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.869000	0.99810	1.515000	0.48885	-0.140000	0.14226	GAG		0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		26	45	1	0	7.93e-12	1.02e-11	26	45				
CCDC155	147872	broad.mit.edu	37	19	49902726	49902726	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:49902726C>G	ENST00000447857.3	+	9	965	c.760C>G	c.(760-762)Cag>Gag	p.Q254E		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	254						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAAGGAGCAGCAGCATCTGGT	0.572																																						uc002pnm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(760-762)CAG>GAG		coiled-coil domain containing 155							60.0	71.0	68.0					19																	49902726		2141	4266	6407	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49902726C>G		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.760C>G	19.37:g.49902726C>G	ENSP00000404220:p.Gln254Glu					CCDC155_uc002pnl.1_Missense_Mutation_p.Q254E|CCDC155_uc010emx.1_Missense_Mutation_p.Q227E	p.Q254E	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			9	934	+			254			Potential.		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.760C>G	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924745	0.73213	.	.	ENSG00000161609	ENST00000447857	T	0.49432	0.78	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000005	T	0.68063	0.2960	M	0.77616	2.38	0.32637	N	0.521211	D;D;D	0.67145	0.99;0.99;0.996	D;D;D	0.76071	0.98;0.98;0.987	T	0.73600	-0.3931	10	0.36615	T	0.2	-14.6011	14.9766	0.71277	0.0:1.0:0.0:0.0	.	254;254;334	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	E	254	ENSP00000404220:Q254E	ENSP00000404220:Q254E	Q	+	1	0	CCDC155	54594538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.892000	0.56235	2.706000	0.92434	0.555000	0.69702	CAG		0.572	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		7	9	0	0	0	0	7	9				
HAS1	3036	broad.mit.edu	37	19	52222623	52222623	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52222623C>A	ENST00000222115.1	-	2	572	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	HAS1_ENST00000601714.1_Missense_Mutation_p.A187S|HAS1_ENST00000540069.2_Missense_Mutation_p.A179S|HAS1_ENST00000594621.1_Missense_Mutation_p.A34S	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	180					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGCTccggcgcccaccgcg	0.726																																					NSCLC(132;636 2450 45807 47979)	uc002pxo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(538-540)GCC>TCC		hyaluronan synthase 1							8.0	9.0	9.0					19																	52222623		2149	4176	6325	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52222623C>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.538G>T	19.37:g.52222623C>A	ENSP00000222115:p.Ala180Ser					HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.A145S|HAS1_uc002pxn.1_Missense_Mutation_p.A187S|HAS1_uc002pxp.1_Missense_Mutation_p.A179S	p.A180S	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	573	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	180			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.538G>T	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	0.798	-0.756434	0.03019	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.30981	1.51;1.51	3.27	-0.683	0.11335	.	0.594111	0.15125	U	0.279143	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	B;B;B	0.23185	0.081;0.049;0.049	B;B;B	0.20184	0.028;0.013;0.008	T	0.29822	-0.9999	10	0.09590	T	0.72	-12.0443	2.8888	0.05670	0.1817:0.5297:0.1772:0.1114	.	179;180;179	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	S	179;180;34;34	ENSP00000445021:A179S;ENSP00000222115:A180S	ENSP00000222115:A180S	A	-	1	0	HAS1	56914435	0.001000	0.12720	0.000000	0.03702	0.523000	0.34469	0.183000	0.16919	-0.307000	0.08804	-0.749000	0.03505	GCC		0.726	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		3	8	1	0	0.004672	0.0049279	3	8				
FPR2	2358	broad.mit.edu	37	19	52272136	52272136	+	Silent	SNP	G	G	C	rs147854636	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:52272136G>C	ENST00000598776.1	+	2	997	c.225G>C	c.(223-225)acG>acC	p.T75T	FPR2_ENST00000340023.6_Silent_p.T75T|FPR2_ENST00000598953.1_Silent_p.T75T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	75					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTTCTTTCACGGCCACATTAC	0.512																																						uc002pxr.2		NA																	0				lung(3)|ovary(1)	4						c.(223-225)ACG>ACC		formyl peptide receptor-like 1							172.0	137.0	149.0					19																	52272136		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272136G>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.225G>C	19.37:g.52272136G>C						FPR2_uc002pxs.3_Silent_p.T75T|FPR2_uc010epf.2_Silent_p.T75T	p.T75T	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	270	+			75			Helical; Name=2; (Potential).		A8K3E2	Silent	SNP	ENST00000598776.1	37	c.225G>C	CCDS12840.1																																																																																				0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		28	88	0	0	0	0	28	88				
PTPRH	5794	broad.mit.edu	37	19	55707974	55707974	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55707974G>A	ENST00000376350.3	-	10	2195	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.R547W	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	725	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGTAGGACCGAGCCGGCCCG	0.632																																						uc002qjq.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2173-2175)CGG>TGG		protein tyrosine phosphatase, receptor type, H							67.0	57.0	61.0					19																	55707974		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55707974G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2173C>T	19.37:g.55707974G>A	ENSP00000365528:p.Arg725Trp					PTPRH_uc010esv.2_Missense_Mutation_p.R547W|PTPRH_uc002qjs.2_Missense_Mutation_p.R732W	p.R725W	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	10	2246	-		Renal(1328;0.245)	725			Extracellular (Potential).|Fibronectin type-III 8.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2173C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171462	0.38315	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06608	3.28;4.27	5.16	4.11	0.48088	Fibronectin, type III (1);	1.355880	0.05354	N	0.532371	T	0.07503	0.0189	N	0.08118	0	0.24774	N	0.992856	D;D;D	0.71674	0.993;0.996;0.998	B;P;P	0.49502	0.431;0.514;0.613	T	0.49390	-0.8945	10	0.66056	D	0.02	.	11.3503	0.49583	0.0:0.0:0.8182:0.1818	.	547;547;725	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	W	725;547	ENSP00000365528:R725W;ENSP00000263434:R547W	ENSP00000263434:R547W	R	-	1	2	PTPRH	60399786	0.843000	0.29541	0.632000	0.29296	0.058000	0.15608	1.284000	0.33249	1.286000	0.44565	-0.188000	0.12872	CGG		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			29	44	0	0	0	0	29	44				
BRSK1	84446	broad.mit.edu	37	19	55817783	55817783	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:55817783G>A	ENST00000309383.1	+	17	2331	c.2054G>A	c.(2053-2055)gGt>gAt	p.G685D	BRSK1_ENST00000326848.7_Missense_Mutation_p.G380D|BRSK1_ENST00000590333.1_Missense_Mutation_p.G701D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	685					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCGGAGGTGGTGGCATCTAC	0.642																																						uc002qkg.2		NA																	0				ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(2053-2055)GGT>GAT		BR serine/threonine kinase 1							99.0	75.0	84.0					19																	55817783		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55817783G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2054G>A	19.37:g.55817783G>A	ENSP00000310649:p.Gly685Asp					BRSK1_uc002qkf.2_Missense_Mutation_p.G701D|BRSK1_uc002qkh.2_Missense_Mutation_p.G380D	p.G685D	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	17	2331	+		Renal(1328;0.245)	685					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.2054G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	4.894	0.166083	0.09339	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.70516	-0.49;2.02	5.46	4.42	0.53409	.	0.442361	0.20958	N	0.082612	T	0.36690	0.0976	N	0.01576	-0.805	0.09310	N	1	B;B	0.21606	0.035;0.058	B;B	0.22601	0.018;0.04	T	0.30031	-0.9992	10	0.07990	T	0.79	.	7.7215	0.28736	0.1747:0.0:0.8253:0.0	.	685;701	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	D	685;380;380	ENSP00000310649:G685D;ENSP00000320853:G380D	ENSP00000310649:G685D	G	+	2	0	BRSK1	60509595	0.001000	0.12720	0.494000	0.27515	0.585000	0.36419	1.324000	0.33712	2.757000	0.94681	0.555000	0.69702	GGT		0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		9	33	0	0	0	0	9	33				
ZNF256	10172	broad.mit.edu	37	19	58453833	58453833	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58453833G>T	ENST00000282308.3	-	3	539	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	115					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)		TACAGTTTCTGACCATGGTGT	0.473																																					NSCLC(55;1313 1552 8040 11996)	uc002qqu.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(343-345)CAG>AAG		zinc finger protein 256							212.0	186.0	195.0					19																	58453833		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.chr19:58453833G>T	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.343C>A	19.37:g.58453833G>T	ENSP00000282308:p.Gln115Lys					ZNF256_uc010euj.2_5'UTR	p.Q115K	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	578	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	115					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.343C>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.469092	0.26335	.	.	ENSG00000152454	ENST00000282308	T	0.27402	1.67	3.42	-1.81	0.07882	Zinc finger, C2H2 (1);	.	.	.	.	T	0.13927	0.0337	N	0.20328	0.56	0.09310	N	1	P	0.38504	0.634	B	0.30105	0.111	T	0.15292	-1.0442	9	0.51188	T	0.08	.	5.1657	0.15084	0.2404:0.4701:0.2895:0.0	.	115	Q9Y2P7	ZN256_HUMAN	K	115	ENSP00000282308:Q115K	ENSP00000282308:Q115K	Q	-	1	0	ZNF256	63145645	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	0.343000	0.19944	-0.026000	0.13895	-0.355000	0.07637	CAG		0.473	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			42	103	1	0	3.67e-30	5.32e-30	42	103				
ZNF324	25799	broad.mit.edu	37	19	58983146	58983146	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr19:58983146G>C	ENST00000536459.2	+	4	1996	c.1287G>C	c.(1285-1287)caG>caC	p.Q429H	ZNF324_ENST00000196482.3_Missense_Mutation_p.Q429H|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.Q206H			O75467	Z324A_HUMAN	zinc finger protein 324	429					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGCCCACAGTGCGGCCGCG	0.677																																						uc002qsw.1		NA																	0					0						c.(1285-1287)CAG>CAC		zinc finger protein 324							38.0	39.0	39.0					19																	58983146		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983146G>C	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1287G>C	19.37:g.58983146G>C	ENSP00000444812:p.Gln429His					ZNF324_uc002qsx.1_Missense_Mutation_p.Q206H	p.Q429H	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1381	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	429			C2H2-type 7.		B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1287G>C	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	7.100	0.573989	0.13623	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17054	2.3;2.3;3.18	3.84	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393818	0.18901	N	0.128037	T	0.10809	0.0264	N	0.25890	0.77	0.30410	N	0.779193	B	0.17038	0.02	B	0.24701	0.055	T	0.10086	-1.0645	10	0.59425	D	0.04	.	4.31	0.10965	0.2094:0.1891:0.6016:0.0	.	429	O75467	Z324A_HUMAN	H	429;429;419;206	ENSP00000196482:Q429H;ENSP00000444812:Q429H;ENSP00000439588:Q206H	ENSP00000196482:Q429H	Q	+	3	2	ZNF324	63674958	0.000000	0.05858	0.981000	0.43875	0.187000	0.23431	-0.778000	0.04664	0.566000	0.29273	0.400000	0.26472	CAG		0.677	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		14	31	0	0	0	0	14	31				
TPO	7173	broad.mit.edu	37	2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					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)	CGGCTTCAGTCAGCCCCGAGG	0.602																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(559-561)CAG>AAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						53.0	59.0	57.0					2																	1457542		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.chr2:1457542C>A		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.559C>A	2.37:g.1457542C>A	ENSP00000318820:p.Gln187Lys					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.Q187K|TPO_uc002qwr.2_Missense_Mutation_p.Q187K|TPO_uc002qwx.2_Missense_Mutation_p.Q187K|TPO_uc010yio.1_Missense_Mutation_p.Q187K|TPO_uc010yip.1_Missense_Mutation_p.Q187K	p.Q187K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	650	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	187			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.559C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035902	0.19590	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.27	4.39	0.52855	.	0.168812	0.52532	D	0.000066	T	0.48732	0.1516	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.33171	0.317;0.4;0.317;0.367	B;B;B;B	0.37550	0.228;0.121;0.164;0.253	T	0.39078	-0.9631	10	0.25106	T	0.35	-22.0183	13.9026	0.63815	0.0:0.6379:0.3621:0.0	.	187;187;187;187	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	187;187;187;187;187;187;187;116	ENSP00000337263:Q187K;ENSP00000318820:Q187K;ENSP00000263886:Q187K;ENSP00000332044:Q187K;ENSP00000329869:Q187K;ENSP00000371636:Q187K;ENSP00000371633:Q187K;ENSP00000405788:Q116K	ENSP00000329869:Q187K	Q	+	1	0	TPO	1436549	0.051000	0.20477	0.903000	0.35520	0.649000	0.38597	0.710000	0.25748	1.194000	0.43101	0.557000	0.71058	CAG		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		29	60	1	0	7.42e-09	9.08e-09	29	60				
PXDN	7837	broad.mit.edu	37	2	1684055	1684055	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:1684055C>G	ENST00000252804.4	-	7	690	c.640G>C	c.(640-642)Ggg>Cgg	p.G214R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	214	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGCGTTCCCCGACTCCGCG	0.582																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(640-642)GGG>CGG		peroxidasin precursor							76.0	80.0	78.0					2																	1684055		2190	4285	6475	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1684055C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.640G>C	2.37:g.1684055C>G	ENSP00000252804:p.Gly214Arg					PXDN_uc002qxb.1_Missense_Mutation_p.G214R|PXDN_uc002qxc.1_Missense_Mutation_p.G31R	p.G214R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	7	704	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	214			LRRCT.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.640G>C	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.31|16.31	3.086586|3.086586	0.55861|0.55861	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000252804;ENST00000425171	.|T;D	.|0.89875	.|0.69;-2.58	4.64|4.64	4.64|4.64	0.57946|0.57946	.|Cysteine-rich flanking region, C-terminal (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.92047|0.92047	0.7480|0.7480	L|L	0.48218|0.48218	1.51|1.51	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.97110	.|0.968;1.0	D|D	0.90327|0.90327	0.4349|0.4349	6|10	.|0.25751	.|T	.|0.34	-35.8714|-35.8714	17.5839|17.5839	0.87976|0.87976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|214;214	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	A|R	137|214;190	.|ENSP00000252804:G214R;ENSP00000398363:G190R	.|ENSP00000252804:G214R	G|G	-|-	2|1	0|0	PXDN|PXDN	1663062|1663062	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.031000|0.031000	0.12232|0.12232	7.704000|7.704000	0.84595|0.84595	2.139000|2.139000	0.66308|0.66308	0.444000|0.444000	0.29173|0.29173	GGG|GGG		0.582	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	24	0	0	0	0	11	24				
ATP6V1C2	245973	broad.mit.edu	37	2	10923308	10923308	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:10923308G>A	ENST00000272238.4	+	14	1312	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	ATP6V1C2_ENST00000381661.3_Silent_p.V355V	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	401					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)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGGCATCTGTGGAGATCCCGG	0.443																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	0				ovary(1)	1						c.(1201-1203)GTG>GTA		vacuolar H+ ATPase C2 isoform a							174.0	162.0	166.0					2																	10923308		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10923308G>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1203G>A	2.37:g.10923308G>A						ATP6V1C2_uc002rat.2_Silent_p.V355V	p.V401V	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	14	1312	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		401					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.1203G>A	CCDS42653.1																																																																																				0.443	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		20	45	0	0	0	0	20	45				
APOB	338	broad.mit.edu	37	2	21231404	21231404	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:21231404T>A	ENST00000233242.1	-	26	8463	c.8336A>T	c.(8335-8337)aAt>aTt	p.N2779I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2779					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)					GGTGGTTCCATTCCCTATGTC	0.398																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8335-8337)AAT>ATT		apolipoprotein B precursor	Atorvastatin(DB01076)						124.0	124.0	124.0					2																	21231404		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.chr2:21231404T>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.8336A>T	2.37:g.21231404T>A	ENSP00000233242:p.Asn2779Ile						p.N2779I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8464	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2779					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8336A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338250	0.41398	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.02369	4.32	5.37	5.37	0.77165	.	0.000000	0.50627	D	0.000108	T	0.15089	0.0364	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00149	-1.1988	10	0.87932	D	0	.	15.0327	0.71720	0.0:0.0:0.0:1.0	.	2779	P04114	APOB_HUMAN	I	2779	ENSP00000233242:N2779I	ENSP00000233242:N2779I	N	-	2	0	APOB	21084909	1.000000	0.71417	0.272000	0.24630	0.003000	0.03518	7.946000	0.87746	2.037000	0.60232	0.459000	0.35465	AAT		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			40	65	0	0	0	0	40	65				
XDH	7498	broad.mit.edu	37	2	31598392	31598392	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:31598392C>A	ENST00000379416.3	-	15	1504	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	486					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.V486M(1)|p.V486L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTGCACACACGTCCTGCAGC	0.637																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1456-1458)GTG>TTG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						58.0	52.0	54.0					2																	31598392		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598392C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1456G>T	2.37:g.31598392C>A	ENSP00000368727:p.Val486Leu						p.V486L	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1535	-	Acute lymphoblastic leukemia(172;0.155)		486					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1456G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726468	0.89298	.	.	ENSG00000158125	ENST00000379416	T	0.24350	1.86	5.32	5.32	0.75619	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.050849	0.85682	D	0.000000	T	0.45716	0.1356	M	0.85373	2.75	0.54753	D	0.999984	B	0.32781	0.384	B	0.41571	0.36	T	0.51371	-0.8714	10	0.66056	D	0.02	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	486	P47989	XDH_HUMAN	L	486	ENSP00000368727:V486L	ENSP00000368727:V486L	V	-	1	0	XDH	31451896	1.000000	0.71417	0.952000	0.39060	0.922000	0.55478	6.031000	0.70911	2.492000	0.84095	0.655000	0.94253	GTG		0.637	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		18	26	1	0	1.68e-08	2.04e-08	18	26				
THUMPD2	80745	broad.mit.edu	37	2	39971589	39971589	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:39971589T>C	ENST00000505747.1	-	9	1135	c.1108A>G	c.(1108-1110)Att>Gtt	p.I370V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.I340V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	370							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GAAATAATAATATCAACACTT	0.279																																						uc002rru.2		NA																	0				skin(1)	1						c.(1108-1110)ATT>GTT		THUMP domain containing 2							47.0	50.0	49.0					2																	39971589		2202	4284	6486	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39971589T>C	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1108A>G	2.37:g.39971589T>C	ENSP00000423933:p.Ile370Val					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.I261V	p.I370V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			9	1145	-		all_hematologic(82;0.248)	370					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1108A>G	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	3.821	-0.037658	0.07497	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	T;T	0.28069	1.63;1.63	5.56	-4.07	0.03975	Putative RNA methylase (1);	0.643729	0.15783	N	0.244847	T	0.09291	0.0229	N	0.01410	-0.885	0.53688	D	0.999974	B;B	0.11235	0.004;0.004	B;B	0.12837	0.008;0.008	T	0.34304	-0.9834	9	.	.	.	.	14.5928	0.68383	0.0:0.752:0.0:0.248	.	261;370	B4DP37;Q9BTF0	.;THUM2_HUMAN	V	370;340	ENSP00000423933:I370V;ENSP00000260619:I340V	.	I	-	1	0	THUMPD2	39825093	0.955000	0.32602	0.379000	0.26080	0.906000	0.53458	-0.029000	0.12329	-0.693000	0.05121	-0.263000	0.10527	ATT		0.279	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		16	30	0	0	0	0	16	30				
GTF2A1L	11036	broad.mit.edu	37	2	48848069	48848069	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:48848069A>G	ENST00000403751.3	+	2	138	c.101A>G	c.(100-102)cAa>cGa	p.Q34R	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.Q738R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.Q738R|GTF2A1L_ENST00000430487.2_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	34					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAGAGGAACAAGTTTTAAAA	0.333																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2212-2214)CAA>CGA		stonin 1							60.0	59.0	59.0					2																	48848069		2203	4298	6501	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48848069A>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.101A>G	2.37:g.48848069A>G	ENSP00000384597:p.Gln34Arg					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q738R|GTF2A1L_uc002rws.1_Missense_Mutation_p.Q34R|GTF2A1L_uc010yom.1_Intron|GTF2A1L_uc002rwt.2_Missense_Mutation_p.Q34R	p.Q738R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	2260	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	738					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2213A>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400938	0.42613	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000403751	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	4.7	4.7	0.59300	Transcription factor IIA, alpha subunit, N-terminal (1);Transcription factor IIA, helical (1);	0.229652	0.39615	N	0.001319	T	0.55162	0.1903	M	0.64170	1.965	0.80722	D	1	B;P;P;P	0.47253	0.001;0.856;0.892;0.762	B;P;P;P	0.51055	0.003;0.657;0.575;0.478	T	0.54622	-0.8266	10	0.35671	T	0.21	.	13.7742	0.63044	1.0:0.0:0.0:0.0	.	738;738;34;738	A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	R	738;738;738;738;738;33;34;34	ENSP00000385499:Q738R;ENSP00000385701:Q738R;ENSP00000378236:Q738R;ENSP00000311493:Q738R;ENSP00000378234:Q738R;ENSP00000396702:Q34R;ENSP00000384597:Q34R	ENSP00000384597:Q34R	Q	+	2	0	STON1-GTF2A1L;GTF2A1L	48701573	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.499000	0.60380	2.110000	0.64415	0.459000	0.35465	CAA		0.333	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		18	31	0	0	0	0	18	31				
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:51254950G>A	ENST00000406316.2	-	2	1938	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_ENST00000405581.1_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000404971.1_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	154	Laminin G-like 1. {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)			GCCCCCCGACGAAAAGGCCGC	0.662																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(460-462)TTC>TTT		neurexin 1 isoform alpha2 precursor							23.0	30.0	28.0					2																	51254950		2120	4237	6357	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.chr2:51254950G>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.462C>T	2.37:g.51254950G>A						NRXN1_uc002rxe.3_Silent_p.F154F|NRXN1_uc002rxd.1_Silent_p.F154F	p.F154F	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1939	-		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	Silent	SNP	ENST00000406316.2	37	c.462C>T	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	21	0	0	0	0	5	21				
CNRIP1	25927	broad.mit.edu	37	2	68521024	68521024	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:68521024C>A	ENST00000263655.3	-	3	1070	c.465G>T	c.(463-465)ctG>ctT	p.L155L	CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_5'UTR	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	155										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCACCCACATCAGACTGCGTG	0.473																																						uc002sek.3		NA																	0				liver(1)	1						c.(463-465)CTG>CTT		cannabinoid receptor interacting protein 1							141.0	114.0	123.0					2																	68521024		2203	4300	6503	SO:0001819	synonymous_variant	25927						protein binding	g.chr2:68521024C>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.465G>T	2.37:g.68521024C>A						CNRIP1_uc002sej.3_Intron|CNRIP1_uc002sem.1_RNA|CNRIP1_uc002sel.3_RNA	p.L155L	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN			3	1116	-			155					B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	ENST00000263655.3	37	c.465G>T	CCDS1886.1																																																																																				0.473	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		25	40	1	0	2.8e-10	3.52e-10	25	40				
DYSF	8291	broad.mit.edu	37	2	71839829	71839829	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:71839829G>T	ENST00000258104.3	+	39	4503	c.4226G>T	c.(4225-4227)cGc>cTc	p.R1409L	DYSF_ENST00000409762.1_Missense_Mutation_p.R1426L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1427L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1396L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1409L|DYSF_ENST00000394120.2_Missense_Mutation_p.R1410L|DYSF_ENST00000409582.3_Missense_Mutation_p.R1426L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1410L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1441L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1440L|DYSF_ENST00000410041.1_Missense_Mutation_p.R1427L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1409	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGATAACCGCCAGTTTGGC	0.637																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4225-4227)CGC>CTC		dysferlin isoform 8							59.0	55.0	56.0					2																	71839829		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839829G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4226G>T	2.37:g.71839829G>T	ENSP00000258104:p.Arg1409Leu					DYSF_uc010feg.2_Missense_Mutation_p.R1440L|DYSF_uc010feh.2_Missense_Mutation_p.R1395L|DYSF_uc002sig.3_Missense_Mutation_p.R1395L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1409L|DYSF_uc010fef.2_Missense_Mutation_p.R1426L|DYSF_uc010fei.2_Missense_Mutation_p.R1426L|DYSF_uc010fek.2_Missense_Mutation_p.R1427L|DYSF_uc010fej.2_Missense_Mutation_p.R1396L|DYSF_uc010fel.2_Missense_Mutation_p.R1396L|DYSF_uc010feo.2_Missense_Mutation_p.R1441L|DYSF_uc010fem.2_Missense_Mutation_p.R1410L|DYSF_uc010fen.2_Missense_Mutation_p.R1427L|DYSF_uc002sif.2_Missense_Mutation_p.R1410L|DYSF_uc010yqy.1_Missense_Mutation_p.R290L|DYSF_uc010yqz.1_Missense_Mutation_p.R149L	p.R1409L	NM_003494	NP_003485	O75923	DYSF_HUMAN			39	4602	+			1409			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4226G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527028	0.96431	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.048434	0.85682	D	0.000000	D	0.92077	0.7489	M	0.93763	3.455	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;D;P;P;P;P	0.59767	0.945;0.741;0.741;0.741;0.741;0.949;0.949;0.949;0.791;0.741;0.986;0.886;0.741;0.741;0.782	D;P;P;P;P;D;D;D;P;P;D;P;P;P;P	0.68765	0.96;0.6;0.6;0.6;0.6;0.934;0.934;0.934;0.8;0.6;0.934;0.892;0.6;0.6;0.722	D	0.93712	0.7025	10	0.72032	D	0.01	-15.2974	16.9157	0.86150	0.0:0.0:1.0:0.0	.	152;1441;1427;1410;1396;1427;1396;1426;1395;1440;1426;1409;1395;1410;1409	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1440;1426;1426;1409;1409;1441;1410;1396;1410;1427;1427	ENSP00000407046:R1440L;ENSP00000387137:R1426L;ENSP00000386547:R1426L;ENSP00000398305:R1409L;ENSP00000258104:R1409L;ENSP00000386683:R1441L;ENSP00000377678:R1410L;ENSP00000386285:R1396L;ENSP00000386512:R1410L;ENSP00000386881:R1427L;ENSP00000386617:R1427L	ENSP00000258104:R1409L	R	+	2	0	DYSF	71693337	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.667000	0.98616	2.610000	0.88304	0.561000	0.74099	CGC		0.637	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		23	52	1	0	2.42e-17	3.31e-17	23	52				
REG3G	130120	broad.mit.edu	37	2	79254295	79254295	+	Missense_Mutation	SNP	C	C	A	rs377627574		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:79254295C>A	ENST00000272324.5	+	4	515	c.331C>A	c.(331-333)Cag>Aag	p.Q111K	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.Q111K	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	111	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						TGACCCCACACAGGTGCGAGT	0.557																																						uc002snw.2		NA																	0					0						c.(331-333)CAG>AAG		regenerating islet-derived 3 gamma precursor							129.0	114.0	119.0					2																	79254295		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254295C>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.331C>A	2.37:g.79254295C>A	ENSP00000272324:p.Gln111Lys					REG3G_uc002snx.2_Missense_Mutation_p.Q111K|REG3G_uc010ffu.2_Intron	p.Q111K	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	416	+			111			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.331C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	0.605	-0.827296	0.02734	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.02323	4.34;4.34	4.83	-3.01	0.05463	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.940370	0.02770	N	0.119642	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.21708	0.036	T	0.46176	-0.9210	10	0.02654	T	1	.	9.6742	0.40030	0.0:0.3051:0.527:0.1679	.	111	Q6UW15	REG3G_HUMAN	K	111	ENSP00000377475:Q111K;ENSP00000272324:Q111K	ENSP00000272324:Q111K	Q	+	1	0	REG3G	79107803	0.274000	0.24191	0.018000	0.16275	0.027000	0.11550	-0.622000	0.05553	-0.473000	0.06871	-0.176000	0.13171	CAG		0.557	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		33	67	1	0	3.76e-14	5e-14	33	67				
LRRTM1	347730	broad.mit.edu	37	2	80529964	80529964	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:80529964C>T	ENST00000295057.3	-	2	1637	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S327S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	327	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGTTGAGCCACGAGGCTAGGG	0.637										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(979-981)TCG>TCA		leucine rich repeat transmembrane neuronal 1							36.0	33.0	34.0					2																	80529964		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529964C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.981G>A	2.37:g.80529964C>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.S327S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1251	-			327			LRRCT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.981G>A	CCDS1966.1																																																																																				0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		7	17	0	0	0	0	7	17				
SMYD1	150572	broad.mit.edu	37	2	88405918	88405918	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:88405918G>C	ENST00000419482.2	+	8	1141	c.1056G>C	c.(1054-1056)cgG>cgC	p.R352R	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.R339R	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	352					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACATGCTGCGGATGCTGAGCA	0.547																																						uc002ssr.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1054-1056)CGG>CGC		SET and MYND domain containing 1							179.0	138.0	152.0					2																	88405918		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405918G>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1056G>C	2.37:g.88405918G>C						SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.R48R	p.R352R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			8	1058	+			352					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.1056G>C	CCDS33240.1																																																																																				0.547	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		22	41	0	0	0	0	22	41				
CNGA3	1261	broad.mit.edu	37	2	98999860	98999860	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:98999860C>T	ENST00000272602.2	+	4	444	c.405C>T	c.(403-405)ccC>ccT	p.P135P	CNGA3_ENST00000409937.1_Silent_p.P139P|CNGA3_ENST00000393504.1_Silent_p.P135P|CNGA3_ENST00000436404.2_Intron			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	135					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|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)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCGCCTGGCCCCTGGCCAAAT	0.597																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(403-405)CCC>CCT		cyclic nucleotide gated channel alpha 3 isoform							107.0	95.0	99.0					2																	98999860		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999860C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.405C>T	2.37:g.98999860C>T						CNGA3_uc002syu.2_Intron|CNGA3_uc010fij.2_Silent_p.P139P	p.P135P	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			5	822	+			135					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.405C>T	CCDS2034.1																																																																																				0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	39	0	0	0	0	9	39				
KIAA1211L	343990	broad.mit.edu	37	2	99439551	99439551	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:99439551G>T	ENST00000397899.2	-	7	1516	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	395	Pro-rich.																CGACGTCTTCGGGAGCACAGA	0.731																																						uc002szf.1		NA																	0					0						c.(1183-1185)CCC>CCA		hypothetical protein LOC343990							8.0	11.0	10.0					2																	99439551		1891	4058	5949	SO:0001819	synonymous_variant	343990							g.chr2:99439551G>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.1185C>A	2.37:g.99439551G>T							p.P395P	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			7	1479	-			395			Pro-rich.			Silent	SNP	ENST00000397899.2	37	c.1185C>A	CCDS42720.1																																																																																				0.731	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		8	11	1	0	0.00448238	0.00475768	8	11				
IL1R1	3554	broad.mit.edu	37	2	102788275	102788275	+	Missense_Mutation	SNP	T	T	A	rs35308674		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:102788275T>A	ENST00000410023.1	+	8	1054	c.736T>A	c.(736-738)Ttg>Atg	p.L246M	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409288.1_Missense_Mutation_p.L246M|IL1R1_ENST00000409329.1_Missense_Mutation_p.L246M|IL1R1_ENST00000233946.3_Missense_Mutation_p.L246M|IL1R1_ENST00000409929.1_Missense_Mutation_p.L246M|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	246	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CCAGATACAATTGATCTGTAA	0.338																																						uc002tbq.2		NA																	0				skin(1)	1						c.(736-738)TTG>ATG		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						89.0	87.0	88.0					2																	102788275		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102788275T>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.736T>A	2.37:g.102788275T>A	ENSP00000386380:p.Leu246Met					IL1R1_uc010fix.2_Missense_Mutation_p.L246M|IL1R1_uc002tbp.2_Missense_Mutation_p.L246M|IL1R1_uc002tbr.2_Missense_Mutation_p.L246M	p.L246M	NM_000877	NP_000868	P14778	IL1R1_HUMAN			8	1054	+			246			Ig-like C2-type 3.|Extracellular (Potential).		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.736T>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956271	0.34565	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87	4.63	-9.26	0.00662	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.249276	0.36972	N	0.002312	T	0.23054	0.0557	L	0.57536	1.79	0.09310	N	1	P;D;D	0.89917	0.927;0.985;1.0	P;D;D	0.87578	0.904;0.962;0.998	T	0.58967	-0.7542	10	0.48119	T	0.1	.	18.8148	0.92073	0.0:0.1798:0.0:0.8202	.	246;246;246	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	M	246;246;246;102;246;246;246	ENSP00000386776:L246M;ENSP00000415366:L246M;ENSP00000387131:L246M;ENSP00000410461:L102M;ENSP00000386478:L246M;ENSP00000386380:L246M;ENSP00000233946:L246M	ENSP00000233946:L246M	L	+	1	2	IL1R1	102154707	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-4.362000	0.00246	-2.984000	0.00282	-1.474000	0.01003	TTG		0.338	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			10	33	0	0	0	0	10	33				
SLC5A7	60482	broad.mit.edu	37	2	108626897	108626897	+	Silent	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:108626897T>A	ENST00000264047.2	+	9	1599	c.1323T>A	c.(1321-1323)tcT>tcA	p.S441S	SLC5A7_ENST00000540517.1_Silent_p.S336S|SLC5A7_ENST00000409059.1_Silent_p.S441S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	441					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTTATGTTTCTGGCCTCTTCC	0.453																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1321-1323)TCT>TCA		solute carrier family 5 (choline transporter),	Choline(DB00122)						136.0	128.0	131.0					2																	108626897		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626897T>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1323T>A	2.37:g.108626897T>A						SLC5A7_uc010ywm.1_Silent_p.S194S|SLC5A7_uc010fjj.2_Silent_p.S441S|SLC5A7_uc010ywn.1_Silent_p.S328S	p.S441S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1599	+			441			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1323T>A	CCDS2074.1																																																																																				0.453	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			16	49	0	0	0	0	16	49				
PSD4	23550	broad.mit.edu	37	2	113955162	113955163	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:113955162_113955163GG>TT	ENST00000245796.6	+	13	2603_2604	c.2408_2409GG>TT	c.(2407-2409)tGG>tTT	p.W803F	PSD4_ENST00000441564.3_Missense_Mutation_p.W775F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	803	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCGTGGCTGGAAGATGTTCC	0.55																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(2407-2409)TGG>TTT		pleckstrin and Sec7 domain containing 4																																				SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955162_113955163GG>TT	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	Exception_encountered	2.37:g.113955162_113955163delinsTT	ENSP00000245796:p.Trp803Phe					PSD4_uc002tjd.2_Missense_Mutation_p.W424F|PSD4_uc002tje.2_Missense_Mutation_p.W774F|PSD4_uc002tjf.2_Missense_Mutation_p.W424F|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Missense_Mutation_p.W34F|PSD4_uc002tjh.2_5'Flank	p.W803F	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			13	2591_2592	+			803			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	DNP	ENST00000245796.6	37	c.2408_2409GG>TT	CCDS33276.1																																																																																				0.550	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		6	25	0	0	0	0	6	25				
THSD7B	80731	broad.mit.edu	37	2	138320906	138320906	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:138320906C>A	ENST00000409968.1	+	16	3432	c.3254C>A	c.(3253-3255)aCa>aAa	p.T1085K	THSD7B_ENST00000413152.2_Missense_Mutation_p.T1057K|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1088K|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1087	TSP type-1 13. {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)		GGAGGAGGAACACAATCTAGG	0.413																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3166-3168)ACA>AAA		thrombospondin, type I, domain containing 7B							90.0	84.0	86.0					2																	138320906		1956	4144	6100	SO:0001583	missense	80731							g.chr2:138320906C>A			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.3254C>A	2.37:g.138320906C>A	ENSP00000387145:p.Thr1085Lys					THSD7B_uc010zbj.1_Intron	p.T1056K	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	15	3167	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3167C>A		.	.	.	.	.	.	.	.	.	.	C	13.35	2.209896	0.39003	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61627	0.09;0.09;0.09	5.41	-0.133	0.13485	.	0.309493	0.36338	N	0.002641	T	0.42381	0.1200	L	0.31120	0.905	0.80722	D	1	B	0.27380	0.177	B	0.34489	0.184	T	0.12091	-1.0561	10	0.33141	T	0.24	.	8.4172	0.32678	0.0:0.3117:0.0:0.6883	.	1057	C9JKN6	.	K	1085;1088;1057	ENSP00000387145:T1085K;ENSP00000272643:T1088K;ENSP00000413841:T1057K	ENSP00000272643:T1088K	T	+	2	0	THSD7B	138037376	0.975000	0.34042	0.986000	0.45419	0.997000	0.91878	1.062000	0.30555	0.092000	0.17331	0.585000	0.79938	ACA		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		14	30	1	0	2.32e-05	2.59e-05	14	30				
LRP1B	53353	broad.mit.edu	37	2	141092122	141092122	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141092122C>A	ENST00000389484.3	-	79	13094	c.12123G>T	c.(12121-12123)atG>atT	p.M4041I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4041					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)		CAGTCCAGTACATCATCCTGA	0.493										TSP Lung(27;0.18)																											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.(12121-12123)ATG>ATT		low density lipoprotein-related protein 1B							136.0	123.0	127.0					2																	141092122		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092122C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12123G>T	2.37:g.141092122C>A	ENSP00000374135:p.Met4041Ile	TSP Lung(27;0.18)					p.M4041I	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)	79	13095	-		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)	4041			Extracellular (Potential).|LDL-receptor class B 35.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12123G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.118234|4.118234	0.77323|0.77323	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.95137	.|-3.62	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.121163	.|0.64402	.|D	.|0.000015	D|D	0.95959|0.95959	0.8684|0.8684	L|L	0.45698|0.45698	1.435|1.435	0.53005|0.53005	D|D	0.999965|0.999965	.|D	.|0.54964	.|0.969	.|D	.|0.70227	.|0.968	D|D	0.93227|0.93227	0.6614|0.6614	5|10	.|0.18276	.|T	.|0.48	.|.	20.2825|20.2825	0.98528|0.98528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4041	.|Q9NZR2	.|LRP1B_HUMAN	F|I	273|4041;3979	.|ENSP00000374135:M4041I	.|ENSP00000374135:M4041I	C|M	-|-	2|3	0|0	LRP1B|LRP1B	140808592|140808592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	7.368000|7.368000	0.79567|0.79567	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	TGT|ATG		0.493	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		18	41	1	0	1.68e-08	2.04e-08	18	41				
LRP1B	53353	broad.mit.edu	37	2	141108566	141108566	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141108566T>A	ENST00000389484.3	-	77	12663	c.11692A>T	c.(11692-11694)Atc>Ttc	p.I3898F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3898					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)		AAACCCAGGATATCAGTGTCA	0.294										TSP Lung(27;0.18)																											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.(11692-11694)ATC>TTC		low density lipoprotein-related protein 1B							97.0	106.0	103.0					2																	141108566		2203	4297	6500	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108566T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11692A>T	2.37:g.141108566T>A	ENSP00000374135:p.Ile3898Phe	TSP Lung(27;0.18)					p.I3898F	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)	77	12664	-		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)	3898			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11692A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446997	0.63178	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.062472	0.64402	D	0.000006	D	0.90899	0.7140	M	0.76170	2.325	0.47009	D	0.999288	P	0.50272	0.933	P	0.46479	0.518	D	0.91278	0.5049	10	0.62326	D	0.03	.	10.3492	0.43924	0.0:0.0733:0.0:0.9267	.	3898	Q9NZR2	LRP1B_HUMAN	F	3898;3836	ENSP00000374135:I3898F	ENSP00000374135:I3898F	I	-	1	0	LRP1B	140825036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.865000	0.69583	2.178000	0.69098	0.533000	0.62120	ATC		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	91	0	0	0	0	35	91				
LRP1B	53353	broad.mit.edu	37	2	141208166	141208166	+	Missense_Mutation	SNP	C	C	G	rs372208989		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:141208166C>G	ENST00000389484.3	-	63	10999	c.10028G>C	c.(10027-10029)gGt>gCt	p.G3343A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3343	LDL-receptor class A 21. {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)		AGATCCATCACCACAGTCATC	0.348										TSP Lung(27;0.18)																											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.(10027-10029)GGT>GCT		low density lipoprotein-related protein 1B							131.0	128.0	129.0					2																	141208166		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141208166C>G	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.10028G>C	2.37:g.141208166C>G	ENSP00000374135:p.Gly3343Ala	TSP Lung(27;0.18)					p.G3343A	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)	63	11000	-		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)	3343			Extracellular (Potential).|LDL-receptor class A 21.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10028G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540475	0.85917	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95035	-3.59	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93516	0.6857	10	0.14252	T	0.57	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	3343	Q9NZR2	LRP1B_HUMAN	A	3343;3281	ENSP00000374135:G3343A	ENSP00000374135:G3343A	G	-	2	0	LRP1B	140924636	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.741000	0.84997	2.757000	0.94681	0.585000	0.79938	GGT		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	65	0	0	0	0	19	65				
NEB	4703	broad.mit.edu	37	2	152563504	152563504	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:152563504T>C	ENST00000172853.10	-	13	1190	c.1043A>G	c.(1042-1044)tAc>tGc	p.Y348C	NEB_ENST00000604864.1_Missense_Mutation_p.Y348C|NEB_ENST00000397345.3_Missense_Mutation_p.Y348C|NEB_ENST00000603639.1_Missense_Mutation_p.Y348C|NEB_ENST00000409198.1_Missense_Mutation_p.Y348C|NEB_ENST00000427231.2_Missense_Mutation_p.Y348C			P20929	NEBU_HUMAN	nebulin	348					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTCTTTGTATTTTACCTG	0.373																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(1042-1044)TAC>TGC		nebulin isoform 3							74.0	71.0	72.0					2																	152563504		1813	4074	5887	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152563504T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1043A>G	2.37:g.152563504T>C	ENSP00000172853:p.Tyr348Cys					NEB_uc010fny.1_Translation_Start_Site	p.Y348C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	13	1234	-			348			Nebulin 8.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.1043A>G		.	.	.	.	.	.	.	.	.	.	T	21.4	4.147519	0.77888	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93890	0.7179	10	0.87932	D	0	.	16.0454	0.80717	0.0:0.0:0.0:1.0	.	348	P20929	NEBU_HUMAN	C	348;348;348;348;74	ENSP00000386259:Y348C;ENSP00000380505:Y348C;ENSP00000416578:Y348C;ENSP00000172853:Y348C	ENSP00000172853:Y348C	Y	-	2	0	NEB	152271750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.771000	0.74996	2.258000	0.74832	0.533000	0.62120	TAC		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	11	0	0	0	0	5	11				
FIGN	55137	broad.mit.edu	37	2	164467533	164467533	+	Missense_Mutation	SNP	G	G	T	rs576789489		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:164467533G>T	ENST00000333129.3	-	3	1123	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGCTGAAGGCGGAGGCGGTGC	0.592																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(808-810)CCG>CAG		fidgetin							36.0	40.0	39.0					2																	164467533		2014	4164	6178	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467533G>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.809C>A	2.37:g.164467533G>T	ENSP00000333836:p.Pro270Gln						p.P270Q	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1120	-			270			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.809C>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486732	0.26686	.	.	ENSG00000182263	ENST00000333129	T	0.50548	0.74	6.07	6.07	0.98685	.	0.202893	0.43110	D	0.000601	T	0.67050	0.2852	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57923	-0.7727	10	0.28530	T	0.3	-14.0811	20.6512	0.99593	0.0:0.0:1.0:0.0	.	270	Q5HY92	FIGN_HUMAN	Q	270	ENSP00000333836:P270Q	ENSP00000333836:P270Q	P	-	2	0	FIGN	164175779	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.744000	0.85034	2.882000	0.98803	0.655000	0.94253	CCG		0.592	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		19	35	1	0	7.45e-12	9.65e-12	19	35				
SCN1A	6323	broad.mit.edu	37	2	166850763	166850763	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:166850763A>G	ENST00000303395.4	-	25	4744	c.4745T>C	c.(4744-4746)gTg>gCg	p.V1582A	SCN1A_ENST00000375405.3_Missense_Mutation_p.V1571A|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1554A|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1582A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1582					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)	AGTAAATAGCACAATGAACAC	0.378																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4711-4713)GTG>GCG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						148.0	117.0	127.0					2																	166850763		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850763A>G	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.4745T>C	2.37:g.166850763A>G	ENSP00000303540:p.Val1582Ala						p.V1571A	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4730	-			1582			Helical; Name=S2 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4712T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480436	0.26598	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.9	5.9	0.94986	.	0.260277	0.29838	N	0.011069	D	0.95217	0.8449	N	0.16266	0.395	0.48511	D	0.999662	B	0.21309	0.054	B	0.29176	0.099	D	0.93088	0.6497	10	0.19590	T	0.45	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	1571	P35498-2	.	A	1582;1582;1571;1554	ENSP00000407030:V1582A;ENSP00000303540:V1582A;ENSP00000364554:V1571A;ENSP00000386312:V1554A	ENSP00000303540:V1582A	V	-	2	0	SCN1A	166559009	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.103000	0.71492	2.251000	0.74343	0.528000	0.53228	GTG		0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	33	0	0	0	0	12	33				
SCN9A	6335	broad.mit.edu	37	2	167056252	167056253	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:167056252_167056253GC>TG	ENST00000409435.1	-	26	4895_4896	c.4896_4897GC>CA	c.(4894-4899)acGCtg>acCAtg	p.L1633M	SCN9A_ENST00000409672.1_Missense_Mutation_p.L1622M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1634M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1634M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1633					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAAAGAGCAGCGTGCGGATCC	0.5																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4861-4866)ACGCTG>ACCATG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)																																			SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056252_167056253GC>TG	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4896_4897delinsTG	2.37:g.167056252_167056253delinsTG	ENSP00000386330:p.Leu1633Met					uc002udp.2_RNA	p.L1622M	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5204_5205	-			1633			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	DNP	ENST00000409435.1	37	c.4863_4864GC>CA	CCDS46441.1																																																																																				0.500	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		54	109	0	0	0	0	54	109				
XIRP2	129446	broad.mit.edu	37	2	168099600	168099600	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:168099600G>T	ENST00000409195.1	+	9	1787	c.1698G>T	c.(1696-1698)tgG>tgT	p.W566C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.W566C|XIRP2_ENST00000409273.1_Missense_Mutation_p.W344C|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	391					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)		p.W566*(1)		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						ACTTGGAATGGGATGAAATTC	0.403																																						uc002udx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(1696-1698)TGG>TGT		xin actin-binding repeat containing 2 isoform 1							55.0	53.0	54.0					2																	168099600		1866	4101	5967	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099600G>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.1698G>T	2.37:g.168099600G>T	ENSP00000386840:p.Trp566Cys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.W391C|XIRP2_uc010fpq.2_Missense_Mutation_p.W344C|XIRP2_uc010fpr.2_Intron	p.W566C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1716	+			391					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.1698G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506040	0.64410	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02974	4.1;4.1;4.09	5.54	4.65	0.58169	.	0.062844	0.64402	N	0.000002	T	0.12050	0.0293	L	0.54323	1.7	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.871	D;D;B	0.91635	0.998;0.999;0.366	T	0.00942	-1.1506	10	0.59425	D	0.04	-3.9024	15.3815	0.74661	0.0:0.0:0.8593:0.1407	.	391;391;344	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	566;566;344	ENSP00000386840:W566C;ENSP00000295237:W566C;ENSP00000387255:W344C	ENSP00000295237:W566C	W	+	3	0	XIRP2	167807846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.316000	0.45131	0.655000	0.94253	TGG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	25	1	0	1.5e-05	1.69e-05	13	25				
AGPS	8540	broad.mit.edu	37	2	178301756	178301756	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:178301756G>T	ENST00000264167.4	+	5	757	c.611G>T	c.(610-612)cGa>cTa	p.R204L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	204	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.R204Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATGTTTGAGCGAATTCCTGAT	0.303																																						uc002ull.2		NA																	1	Substitution - Missense(1)	p.R204R(1)	large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(610-612)CGA>CTA		alkyldihydroxyacetone phosphate synthase							125.0	132.0	130.0					2																	178301756		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178301756G>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.611G>T	2.37:g.178301756G>T	ENSP00000264167:p.Arg204Leu					AGPS_uc010zfb.1_Missense_Mutation_p.R114L	p.R204L	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		5	658	+			204			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.611G>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541251	0.85917	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.81739	-1.53	5.52	4.64	0.57946	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.89760	0.6808	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.91173	0.4970	10	0.87932	D	0	.	14.2952	0.66308	0.0719:0.0:0.9281:0.0	.	204	O00116	ADAS_HUMAN	L	204;74	ENSP00000264167:R204L	ENSP00000264167:R204L	R	+	2	0	AGPS	178010002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.468000	0.90393	1.315000	0.45114	0.655000	0.94253	CGA		0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			30	72	1	0	3.67e-24	5.22e-24	30	72				
TTN	7273	broad.mit.edu	37	2	179481873	179481873	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179481873C>A	ENST00000591111.1	-	205	43150	c.42926G>T	c.(42925-42927)gGt>gTt	p.G14309V	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7010V|TTN_ENST00000460472.2_Missense_Mutation_p.G6885V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G15950V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7077V|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13382V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14309	Fibronectin type-III 3. {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)			GGTGAGAGGACCAAGAATTTC	0.368																																						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.(40144-40146)GGT>GTT		titin isoform N2-A							60.0	57.0	58.0					2																	179481873		1853	4096	5949	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481873C>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.42926G>T	2.37:g.179481873C>A	ENSP00000465570:p.Gly14309Val					TTN_uc010zfh.1_Missense_Mutation_p.G7077V|TTN_uc010zfi.1_Missense_Mutation_p.G7010V|TTN_uc010zfj.1_Missense_Mutation_p.G6885V	p.G13382V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		204	40369	-			14309					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.40145G>T		.	.	.	.	.	.	.	.	.	.	C	13.68	2.309251	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.76	5.76	0.90799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66005	0.2746	M	0.66939	2.045	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	0.66991	-0.5783	9	0.87932	D	0	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	6885;7010;7077;14309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	13382;6885;7077;7010;6885	ENSP00000343764:G13382V;ENSP00000434586:G6885V;ENSP00000340554:G7077V;ENSP00000352154:G7010V	ENSP00000340554:G7077V	G	-	2	0	TTN	179190118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.706000	0.92434	0.655000	0.94253	GGT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	18	1	0	1.13e-05	1.28e-05	7	18				
TTN	7273	broad.mit.edu	37	2	179577472	179577472	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:179577472T>A	ENST00000591111.1	-	92	26553	c.26329A>T	c.(26329-26331)Agc>Tgc	p.S8777C	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9094C|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7850C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12927	Ig-like 70.				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)			GCTTCATTGCTAACTATGCAA	0.393																																						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.(23548-23550)AGC>TGC		titin isoform N2-A							92.0	90.0	91.0					2																	179577472		1904	4119	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577472T>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.26329A>T	2.37:g.179577472T>A	ENSP00000465570:p.Ser8777Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4511C	p.S7850C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		91	23772	-			8777					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.23548A>T		.	.	.	.	.	.	.	.	.	.	T	9.181	1.023615	0.19433	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79787	0.4506	M	0.89968	3.075	0.09310	N	0.999999	P	0.42456	0.78	P	0.49999	0.628	T	0.75388	-0.3335	9	0.87932	D	0	.	11.6417	0.51237	0.1405:0.0:0.0:0.8595	.	8777	Q8WZ42	TITIN_HUMAN	C	7850	ENSP00000343764:S7850C	ENSP00000343764:S7850C	S	-	1	0	TTN	179285717	0.006000	0.16342	0.435000	0.26784	0.990000	0.78478	1.690000	0.37711	2.198000	0.70561	0.533000	0.62120	AGC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	69	0	0	0	0	25	69				
CWC22	57703	broad.mit.edu	37	2	180835757	180835757	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180835757C>G	ENST00000410053.3	-	9	1150	c.851G>C	c.(850-852)aGa>aCa	p.R284T	CWC22_ENST00000295749.6_Missense_Mutation_p.R284T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	284	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				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						ATCTGTTGGTCTTTCCAGGAG	0.353																																						uc010frh.1		NA																	0					0						c.(850-852)AGA>ACA		CWC22 spliceosome-associated protein homolog							111.0	102.0	105.0					2																	180835757		1866	4112	5978	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180835757C>G		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.851G>C	2.37:g.180835757C>G	ENSP00000387006:p.Arg284Thr					CWC22_uc002unp.2_Missense_Mutation_p.R284T	p.R284T	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			9	1151	-			284			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.851G>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256494	0.39896	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.21361	2.01;2.01;2.01	5.91	5.03	0.67393	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	N	0.04116	-0.275	0.52099	D	0.999948	D	0.64830	0.994	D	0.65443	0.935	T	0.19910	-1.0291	10	0.11485	T	0.65	-23.6267	15.707	0.77592	0.1376:0.8624:0.0:0.0	.	284	Q9HCG8	CWC22_HUMAN	T	284	ENSP00000387006:R284T;ENSP00000295749:R284T;ENSP00000384159:R284T	ENSP00000295749:R284T	R	-	2	0	CWC22	180544002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.890000	0.69774	1.497000	0.48584	-0.152000	0.13540	AGA		0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		16	22	0	0	0	0	16	22				
CWC22	57703	broad.mit.edu	37	2	180851515	180851515	+	Missense_Mutation	SNP	C	C	G	rs369017213		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:180851515C>G	ENST00000410053.3	-	4	412	c.113G>C	c.(112-114)cGa>cCa	p.R38P	CWC22_ENST00000295749.6_Missense_Mutation_p.R38P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	38	Arg-rich.				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						CCGGGGGGATCGTTCTTGTTC	0.343																																						uc010frh.1		NA																	0					0						c.(112-114)CGA>CCA		CWC22 spliceosome-associated protein homolog							66.0	59.0	61.0					2																	180851515		1811	4085	5896	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180851515C>G		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.113G>C	2.37:g.180851515C>G	ENSP00000387006:p.Arg38Pro					CWC22_uc002unp.2_Missense_Mutation_p.R38P	p.R38P	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			4	413	-			38			Arg-rich.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.113G>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644736	0.47258	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.32753	1.44;1.44;1.44	6.06	6.06	0.98353	.	0.478290	0.23714	N	0.045289	T	0.54615	0.1869	M	0.71581	2.175	0.49213	D	0.999763	D	0.76494	0.999	D	0.63381	0.914	T	0.52924	-0.8510	10	0.66056	D	0.02	-15.2718	17.7768	0.88511	0.0:1.0:0.0:0.0	.	38	Q9HCG8	CWC22_HUMAN	P	38	ENSP00000387006:R38P;ENSP00000295749:R38P;ENSP00000384159:R38P	ENSP00000295749:R38P	R	-	2	0	CWC22	180559760	1.000000	0.71417	0.969000	0.41365	0.097000	0.18754	4.400000	0.59709	2.882000	0.98803	0.655000	0.94253	CGA		0.343	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		18	17	0	0	0	0	18	17				
SLC39A10	57181	broad.mit.edu	37	2	196581405	196581405	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196581405G>A	ENST00000409086.3	+	7	2016	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SLC39A10_ENST00000359634.5_Missense_Mutation_p.E581K|SLC39A10_ENST00000541054.1_Missense_Mutation_p.E131K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	581					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAATGAAACTGAACTGACAGA	0.348																																						uc002utg.3		NA																	0				pancreas(1)|skin(1)	2						c.(1741-1743)GAA>AAA		solute carrier family 39 (zinc transporter),							50.0	53.0	52.0					2																	196581405		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581405G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1741G>A	2.37:g.196581405G>A	ENSP00000386766:p.Glu581Lys					SLC39A10_uc002uth.3_Missense_Mutation_p.E581K|SLC39A10_uc010zgp.1_Missense_Mutation_p.E131K	p.E581K	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	1955	+			581					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1741G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706074	0.68615	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.50001	0.76;0.76;0.76	5.54	5.54	0.83059	.	0.600012	0.18557	N	0.137724	T	0.53029	0.1771	L	0.28344	0.845	0.51233	D	0.999916	D	0.57571	0.98	P	0.57244	0.816	T	0.40794	-0.9544	10	0.29301	T	0.29	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	581	Q9ULF5	S39AA_HUMAN	K	581;581;131	ENSP00000386766:E581K;ENSP00000352655:E581K;ENSP00000437787:E131K	ENSP00000352655:E581K	E	+	1	0	SLC39A10	196289650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.160000	0.71862	2.890000	0.99128	0.650000	0.86243	GAA		0.348	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		20	33	0	0	0	0	20	33				
DNAH7	56171	broad.mit.edu	37	2	196659141	196659142	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196659141_196659142CC>TA	ENST00000312428.6	-	57	10736_10737	c.10636_10637GG>TA	c.(10636-10638)GGt>TAt	p.G3546Y	DNAH7_ENST00000409063.1_Missense_Mutation_p.G29Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3546	AAA 6. {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						AGCCCGTAAACCTTTTGGTGCT	0.441																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10636-10638)GGT>TAT		dynein, axonemal, heavy chain 7																																				SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196659141_196659142CC>TA	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.10636_10637delinsTA	2.37:g.196659141_196659142delinsTA	ENSP00000311273:p.Gly3546Tyr					DNAH7_uc002uti.3_Missense_Mutation_p.G29Y	p.G3546Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			57	10737_10738	-			3546			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	DNP	ENST00000312428.6	37	c.10636_10637GG>TA	CCDS42794.1																																																																																				0.441	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		35	83	0	0	0	0	35	83				
DNAH7	56171	broad.mit.edu	37	2	196674504	196674504	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:196674504A>C	ENST00000312428.6	-	52	9953	c.9853T>G	c.(9853-9855)Tgt>Ggt	p.C3285G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3285					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						ATGGTTAGACAAAAGGAAAAG	0.368																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(9853-9855)TGT>GGT		dynein, axonemal, heavy chain 7							73.0	67.0	69.0					2																	196674504		1840	4090	5930	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196674504A>C	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.9853T>G	2.37:g.196674504A>C	ENSP00000311273:p.Cys3285Gly						p.C3285G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			52	9954	-			3285					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9853T>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	9.569	1.120507	0.20877	.	.	ENSG00000118997	ENST00000312428	T	0.56444	0.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.53249	1.67	0.80722	D	1	P	0.43662	0.814	B	0.39299	0.296	T	0.56062	-0.8041	10	0.56958	D	0.05	.	15.4857	0.75564	1.0:0.0:0.0:0.0	.	3285	Q8WXX0	DYH7_HUMAN	G	3285	ENSP00000311273:C3285G	ENSP00000311273:C3285G	C	-	1	0	DNAH7	196382749	0.795000	0.28851	0.820000	0.32676	0.174000	0.22865	2.543000	0.45752	2.324000	0.78689	0.533000	0.62120	TGT		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		19	31	0	0	0	0	19	31				
HECW2	57520	broad.mit.edu	37	2	197092955	197092955	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:197092955C>A	ENST00000260983.3	-	22	3970	c.3788G>T	c.(3787-3789)aGa>aTa	p.R1263I	HECW2_ENST00000409111.1_Missense_Mutation_p.R907I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1263	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAAAACTCTCTAGAAGGCCC	0.363																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3787-3789)AGA>ATA		HECT, C2 and WW domain containing E3 ubiquitin							65.0	68.0	67.0					2																	197092955		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197092955C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3788G>T	2.37:g.197092955C>A	ENSP00000260983:p.Arg1263Ile					HECW2_uc002utl.1_Missense_Mutation_p.R907I	p.R1263I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			22	3971	-			1263			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3788G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079024	0.94050	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.54866	0.55;0.55	5.44	5.44	0.79542	HECT (3);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	H	0.98199	4.17	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89333	0.3648	10	0.87932	D	0	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	1263	Q9P2P5	HECW2_HUMAN	I	907;1263	ENSP00000386775:R907I;ENSP00000260983:R1263I	ENSP00000260983:R1263I	R	-	2	0	HECW2	196801200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.828000	0.97474	0.655000	0.94253	AGA		0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		20	29	1	0	8.1e-08	9.71e-08	20	29				
FZD7	8324	broad.mit.edu	37	2	202900651	202900651	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:202900651G>A	ENST00000286201.1	+	1	1342	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	427					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|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)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGTGCTGGCGCCTCTGTTCG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1279-1281)GCG>GCA		frizzled 7 precursor							87.0	71.0	77.0					2																	202900651		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900651G>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1281G>A	2.37:g.202900651G>A			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A427A	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1342	+			427			Helical; Name=5; (Potential).		O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.1281G>A	CCDS2351.1																																																																																				0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		4	78	0	0	0	0	4	78				
FZD5	7855	broad.mit.edu	37	2	208632914	208632914	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:208632914C>A	ENST00000295417.3	-	2	1103	c.550G>T	c.(550-552)Gct>Tct	p.A184S		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	184					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGGCCCCCAGCGGGGCATTCG	0.711																																						uc002vcj.2		NA																	0				ovary(2)|lung(1)	3						c.(550-552)GCT>TCT		frizzled 5 precursor							11.0	12.0	12.0					2																	208632914		2170	4281	6451	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632914C>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.550G>T	2.37:g.208632914C>A	ENSP00000354607:p.Ala184Ser						p.A184S	NM_003468	NP_003459	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	960	-			184			Extracellular (Potential).		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.550G>T	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	0.309	-0.969055	0.02232	.	.	ENSG00000163251	ENST00000295417	T	0.78924	-1.22	4.68	-0.518	0.11943	.	0.403373	0.22758	N	0.055995	T	0.46112	0.1376	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.38045	-0.9679	10	0.02654	T	1	.	4.3436	0.11122	0.2474:0.379:0.0:0.3736	.	184	Q13467	FZD5_HUMAN	S	184	ENSP00000354607:A184S	ENSP00000354607:A184S	A	-	1	0	FZD5	208341159	0.000000	0.05858	0.011000	0.14972	0.576000	0.36127	-0.071000	0.11505	-0.043000	0.13513	0.561000	0.74099	GCT		0.711	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		12	11	1	0	4.37e-10	5.47e-10	12	11				
CUL3	8452	broad.mit.edu	37	2	225371641	225371641	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:225371641C>G	ENST00000264414.4	-	7	1301	c.963G>C	c.(961-963)ttG>ttC	p.L321F	CUL3_ENST00000344951.4_Missense_Mutation_p.L255F|CUL3_ENST00000409777.1_Missense_Mutation_p.L297F|CUL3_ENST00000409096.1_Missense_Mutation_p.L297F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	321					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.L321F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGCTCCCTCAAATAGGAAC	0.378																																						uc002vny.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(961-963)TTG>TTC		cullin 3							98.0	91.0	93.0					2																	225371641		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371641C>G	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.963G>C	2.37:g.225371641C>G	ENSP00000264414:p.Leu321Phe					CUL3_uc010zls.1_Missense_Mutation_p.L255F|CUL3_uc010fwy.1_Missense_Mutation_p.L327F	p.L321F	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1347	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	321					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.963G>C	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572627	0.65765	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.69	1.39	0.22231	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.65207	-0.6224	10	0.87932	D	0	.	11.4784	0.50312	0.0:0.7151:0.0:0.2849	.	255;299;321	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	F	321;255;297;297	ENSP00000264414:L321F;ENSP00000343601:L255F;ENSP00000387200:L297F;ENSP00000386525:L297F	ENSP00000264414:L321F	L	-	3	2	CUL3	225079885	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.295000	0.19065	0.364000	0.24374	0.591000	0.81541	TTG		0.378	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			26	36	0	0	0	0	26	36				
SLC19A3	80704	broad.mit.edu	37	2	228563910	228563910	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228563910A>T	ENST00000258403.3	-	3	592	c.521T>A	c.(520-522)gTc>gAc	p.V174D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V170D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	174			V -> I (in dbSNP:rs59736804).		small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAAGGATATGACGTTGAGGTA	0.507																																						uc002vpi.2		NA																	0				ovary(2)	2						c.(520-522)GTC>GAC		solute carrier family 19, member 3	L-Cysteine(DB00151)						105.0	99.0	101.0					2																	228563910		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563910A>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.521T>A	2.37:g.228563910A>T	ENSP00000258403:p.Val174Asp					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.V170D	p.V174D	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	610	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	174			Helical; (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.521T>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572093	0.45798	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.81499	-1.5;-1.5	5.77	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);	0.360318	0.31301	N	0.007882	D	0.86301	0.5900	M	0.82323	2.585	0.58432	D	0.999994	D;D	0.65815	0.995;0.994	D;D	0.71656	0.939;0.974	T	0.82422	-0.0465	10	0.48119	T	0.1	-16.5642	3.7009	0.08382	0.5842:0.0:0.2503:0.1654	.	170;174	F5H2M8;Q9BZV2	.;S19A3_HUMAN	D	174;170	ENSP00000258403:V174D;ENSP00000445519:V170D	ENSP00000258403:V174D	V	-	2	0	SLC19A3	228272154	0.038000	0.19896	0.754000	0.31244	0.253000	0.25986	1.087000	0.30865	0.421000	0.25980	0.533000	0.62120	GTC		0.507	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			27	85	0	0	0	0	27	85				
SPHKAP	80309	broad.mit.edu	37	2	228890142	228890142	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:228890142C>T	ENST00000392056.3	-	5	455	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G137R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	137						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)		TGGAGATTTCCAGAGGCTAAC	0.378																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(409-411)GGA>AGA		sphingosine kinase type 1-interacting protein							111.0	108.0	109.0					2																	228890142		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228890142C>T		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.409G>A	2.37:g.228890142C>T	ENSP00000375909:p.Gly137Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.G137R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G137R	p.G137R	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)	5	456	-		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)	137					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.409G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411718	0.83340	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11930	2.73;2.73	5.93	5.05	0.67936	.	0.216045	0.47455	D	0.000235	T	0.20740	0.0499	L	0.27053	0.805	0.54753	D	0.999981	D;D	0.61697	0.99;0.976	P;P	0.59012	0.775;0.85	T	0.00316	-1.1823	10	0.72032	D	0.01	.	13.6377	0.62230	0.0:0.9268:0.0:0.0732	.	137;137	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	137	ENSP00000375909:G137R;ENSP00000339886:G137R	ENSP00000339886:G137R	G	-	1	0	SPHKAP	228598386	0.999000	0.42202	1.000000	0.80357	0.819000	0.46315	1.609000	0.36858	2.826000	0.97356	0.655000	0.94253	GGA		0.378	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		19	60	0	0	0	0	19	60				
TRIP12	9320	broad.mit.edu	37	2	230652349	230652349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:230652349G>A	ENST00000283943.5	-	32	4820	c.4642C>T	c.(4642-4644)Caa>Taa	p.Q1548*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q1278*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1596*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1548	K-box.				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)		AAAAGCATTTGCCGGGTATCA	0.353																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4642-4644)CAA>TAA		thyroid hormone receptor interactor 12							74.0	74.0	74.0					2																	230652349		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230652349G>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.4642C>T	2.37:g.230652349G>A	ENSP00000283943:p.Gln1548*					TRIP12_uc002vpx.1_Nonsense_Mutation_p.Q1596*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Q1278*	p.Q1548*	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)	32	4751	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1548			K-box.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.4642C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	45	11.758543	0.99599	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.7584	0.91840	0.0:0.0:1.0:0.0	.	.	.	.	X	1548;1278;1596	.	ENSP00000283943:Q1548X	Q	-	1	0	TRIP12	230360593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.416000	0.81992	0.557000	0.71058	CAA		0.353	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		14	31	0	0	0	0	14	31				
COL6A3	1293	broad.mit.edu	37	2	238277511	238277511	+	Missense_Mutation	SNP	G	G	T	rs372247515		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:238277511G>T	ENST00000295550.4	-	10	5047	c.4595C>A	c.(4594-4596)gCg>gAg	p.A1532E	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1326E|COL6A3_ENST00000472056.1_Missense_Mutation_p.A925E|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1331E|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1326E|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1332E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1532	Nonhelical region.|VWFA 8. {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)		GCGACTCCCCGCAGACTTAAC	0.597																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4594-4596)GCG>GAG		alpha 3 type VI collagen isoform 1 precursor							66.0	66.0	66.0					2																	238277511		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277511G>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.4595C>A	2.37:g.238277511G>T	ENSP00000295550:p.Ala1532Glu					COL6A3_uc002vwo.2_Missense_Mutation_p.A1326E|COL6A3_uc010znj.1_Missense_Mutation_p.A925E	p.A1532E	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)	10	4880	-		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)	1532			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4595C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106130	0.37145	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.36	3.53	0.40419	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000046	D	0.86205	0.5877	L	0.49571	1.57	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.97110	1.0;1.0;0.87	T	0.81705	-0.0811	10	0.21540	T	0.41	.	10.6419	0.45598	0.0695:0.0:0.7982:0.1324	.	925;1326;1532	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	1532;1331;1326;925;1326;1332	ENSP00000295550:A1532E;ENSP00000315609:A1331E;ENSP00000315873:A1326E;ENSP00000418285:A925E;ENSP00000386844:A1326E;ENSP00000295546:A1332E	ENSP00000295550:A1532E	A	-	2	0	COL6A3	237942250	1.000000	0.71417	0.321000	0.25320	0.372000	0.29890	7.900000	0.87376	0.611000	0.30052	0.655000	0.94253	GCG		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		34	46	1	0	3.9e-15	5.24e-15	34	46				
GAL3ST2	64090	broad.mit.edu	37	2	242741244	242741244	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr2:242741244C>T	ENST00000192314.6	+	3	299	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	56					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACATCATGTTCCTGAAGACGC	0.662																																						uc002wcj.1		NA																	0					0						c.(166-168)TTC>TTT		galactose-3-O-sulfotransferase 2							50.0	46.0	47.0					2																	242741244		2203	4297	6500	SO:0001819	synonymous_variant	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242741244C>T	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.168C>T	2.37:g.242741244C>T							p.F56F	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	299	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	56			Lumenal (Potential).		Q17RK0|Q57Z52	Silent	SNP	ENST00000192314.6	37	c.168C>T	CCDS33427.1																																																																																				0.662	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		18	33	0	0	0	0	18	33				
C20orf27	54976	broad.mit.edu	37	20	3735131	3735131	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:3735131C>G	ENST00000379772.3	-	5	1147	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	C20orf27_ENST00000217195.8_Missense_Mutation_p.E138Q	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	113										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						AGGACGCCCTCTTTGTGCGCC	0.632																																						uc002wji.1		NA																	0					0						c.(337-339)GAG>CAG		hypothetical protein LOC54976							124.0	100.0	108.0					20																	3735131		2203	4300	6503	SO:0001583	missense	54976							g.chr20:3735131C>G	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.337G>C	20.37:g.3735131C>G	ENSP00000369097:p.Glu113Gln					C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.E138Q	p.E113Q	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN			5	566	-			113					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.337G>C	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265030	0.80358	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672	.	.	.	4.82	4.82	0.62117	.	0.000000	0.64402	U	0.000002	T	0.78227	0.4250	M	0.74881	2.28	0.54753	D	0.999982	D;D	0.89917	0.999;1.0	D;D	0.74674	0.967;0.984	T	0.80544	-0.1335	9	0.72032	D	0.01	-5.1088	15.8093	0.78543	0.0:1.0:0.0:0.0	.	113;138	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	Q	113;138;113	.	ENSP00000217195:E138Q	E	-	1	0	C20orf27	3683131	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	6.276000	0.72601	2.677000	0.91161	0.561000	0.74099	GAG		0.632	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		24	53	0	0	0	0	24	53				
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	T	rs267606070		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:9561116G>T	ENST00000378429.3	-	5	1212	c.666C>A	c.(664-666)gcC>gcA	p.A222A	PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.				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)			AGCTACTCGAGGCTCTCTGAT	0.488																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(664-666)GCC>GCA		p21-activated kinase 7							75.0	73.0	74.0					20																	9561116		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561116G>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.666C>A	20.37:g.9561116G>T						PAK7_uc002wnk.2_Silent_p.A222A|PAK7_uc002wnj.2_Silent_p.A222A|PAK7_uc010gby.1_Silent_p.A222A	p.A222A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1211	-			222			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.666C>A	CCDS13107.1																																																																																				0.488	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			20	43	1	0	2.39e-15	3.23e-15	20	43				
CCM2L	140706	broad.mit.edu	37	20	30610545	30610545	+	Missense_Mutation	SNP	G	G	T	rs541586241		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:30610545G>T	ENST00000300415.8	+	6	1029	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	CCM2L_ENST00000262659.8_Missense_Mutation_p.R339L			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	339								p.R339Q(2)									TGTGTGGACCGGGCTGGCTAC	0.587																																						uc002wxf.2		NA																	2	Substitution - Missense(2)		prostate(2)	central_nervous_system(3)|ovary(1)	4						c.(1015-1017)CGG>CTG		hypothetical protein LOC140706							109.0	84.0	93.0					20																	30610545		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30610545G>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1016G>T	20.37:g.30610545G>T	ENSP00000300415:p.Arg339Leu					C20orf160_uc002wxg.2_5'UTR	p.R339L	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			6	1029	+			339					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1016G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.406564	0.96051	.	.	ENSG00000101331	ENST00000300415;ENST00000262659;ENST00000452892	T;T;T	0.42131	0.98;0.98;0.98	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	M	0.80422	2.495	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.72384	-0.4310	10	0.87932	D	0	-38.2045	17.7483	0.88427	0.0:0.0:1.0:0.0	.	339	Q9NUG4-2	.	L	339;339;92	ENSP00000300415:R339L;ENSP00000262659:R339L;ENSP00000392448:R92L	ENSP00000262659:R339L	R	+	2	0	C20orf160	30074206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.254000	0.95512	2.536000	0.85505	0.462000	0.41574	CGG		0.587	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		15	46	1	0	2.62e-11	3.36e-11	15	46				
BPIFB1	92747	broad.mit.edu	37	20	31877739	31877739	+	Silent	SNP	G	G	T	rs377293496		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:31877739G>T	ENST00000253354.1	+	4	467	c.306G>T	c.(304-306)tcG>tcT	p.S102S		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	102					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGAAGCCCTCGGCCAATGACC	0.542																																						uc002wyw.1		NA																	0				central_nervous_system(2)|skin(2)	4						c.(304-306)TCG>TCT		LPLUNC1 protein precursor							133.0	107.0	115.0					20																	31877739		2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31877739G>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.306G>T	20.37:g.31877739G>T						C20orf114_uc010gej.1_Silent_p.S102S	p.S102S	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			4	467	+			102					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.306G>T	CCDS13218.1																																																																																				0.542	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		17	47	1	0	9.17e-09	1.12e-08	17	47				
BPI	671	broad.mit.edu	37	20	36952317	36952317	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:36952317C>T	ENST00000262865.4	+	8	903	c.814C>T	c.(814-816)Cca>Tca	p.P272S	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	272					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCCTTTGCTCCACCAGTGAT	0.522																																						uc002xib.2		NA																	0				ovary(4)	4						c.(814-816)CCA>TCA		bactericidal/permeability-increasing protein							134.0	110.0	118.0					20																	36952317		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952317C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.814C>T	20.37:g.36952317C>T	ENSP00000262865:p.Pro272Ser						p.P272S	NM_001725	NP_001716	P17213	BPI_HUMAN			8	876	+		Myeloproliferative disorder(115;0.00878)	272					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.814C>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624245	0.46840	.	.	ENSG00000101425	ENST00000262865	T	0.10005	2.92	4.5	1.27	0.21489	Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000003	T	0.31482	0.0798	M	0.78344	2.41	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11616	-1.0580	10	0.66056	D	0.02	-26.669	13.56	0.61784	0.0:0.549:0.451:0.0	.	272	P17213	BPI_HUMAN	S	272	ENSP00000262865:P272S	ENSP00000262865:P272S	P	+	1	0	BPI	36385731	0.761000	0.28439	0.002000	0.10522	0.028000	0.11728	2.392000	0.44433	0.195000	0.20347	0.655000	0.94253	CCA		0.522	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		23	45	0	0	0	0	23	45				
ACTR5	79913	broad.mit.edu	37	20	37378668	37378668	+	Missense_Mutation	SNP	C	C	T	rs376328133		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:37378668C>T	ENST00000243903.4	+	2	428	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	131					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGTTGATCATCCCATAGTTTT	0.413																																						uc002xjd.2		NA																	0					0						c.(391-393)CCC>TCC		ARP5 actin-related protein 5 homolog							99.0	88.0	91.0					20																	37378668		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37378668C>T	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.391C>T	20.37:g.37378668C>T	ENSP00000243903:p.Pro131Ser						p.P131S	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			2	416	+		Myeloproliferative disorder(115;0.00878)	131					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.391C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287867	0.80803	.	.	ENSG00000101442	ENST00000243903	D	0.97811	-4.55	4.19	4.19	0.49359	.	0.055265	0.85682	D	0.000000	D	0.98451	0.9484	M	0.85542	2.76	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	D	0.99441	1.0938	10	0.72032	D	0.01	-21.6572	17.0855	0.86610	0.0:1.0:0.0:0.0	.	131	Q9H9F9	ARP5_HUMAN	S	131	ENSP00000243903:P131S	ENSP00000243903:P131S	P	+	1	0	ACTR5	36812082	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.241000	0.78201	2.326000	0.78906	0.563000	0.77884	CCC		0.413	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		23	55	0	0	0	0	23	55				
ZNF831	128611	broad.mit.edu	37	20	57769304	57769304	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:57769304G>T	ENST00000371030.2	+	1	3230	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1077							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)					CGTATCCATCGCCTCTGCATG	0.637																																						uc002yan.2		NA																	0		p.R1077C(1)		skin(13)|ovary(1)	14						c.(3229-3231)CGC>CTC		zinc finger protein 831							33.0	36.0	35.0					20																	57769304		2044	4207	6251	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769304G>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.3230G>T	20.37:g.57769304G>T	ENSP00000360069:p.Arg1077Leu						p.R1077L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3230	+	all_lung(29;0.0085)		1077					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3230G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501124	0.26861	.	.	ENSG00000124203	ENST00000371030	T	0.04360	3.64	4.54	-6.56	0.01848	.	0.922336	0.09157	N	0.840794	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.27013	0.166	B	0.22880	0.042	T	0.47368	-0.9123	10	0.10377	T	0.69	0.0304	6.5997	0.22693	0.3197:0.2634:0.4169:0.0	.	1077	Q5JPB2	ZN831_HUMAN	L	1077	ENSP00000360069:R1077L	ENSP00000360069:R1077L	R	+	2	0	ZNF831	57202699	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.119000	0.10676	-1.631000	0.01543	-0.320000	0.08662	CGC		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	32	1	0	1.77e-08	2.14e-08	10	32				
TAF4	6874	broad.mit.edu	37	20	60581806	60581806	+	Silent	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:60581806T>C	ENST00000252996.4	-	7	1982	c.1983A>G	c.(1981-1983)ttA>ttG	p.L661L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	661	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGGCGGGTAAGCTCCTCT	0.587																																						uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1981-1983)TTA>TTG		TBP-associated factor 4							30.0	40.0	36.0					20																	60581806		2194	4247	6441	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581806T>C	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1983A>G	20.37:g.60581806T>C							p.L661L	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	1983	-	Breast(26;1e-08)		661			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.1983A>G	CCDS33500.1																																																																																				0.587	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		16	27	0	0	0	0	16	27				
ZNF512B	57473	broad.mit.edu	37	20	62597874	62597874	+	Silent	SNP	G	G	A	rs373702537		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:62597874G>A	ENST00000450537.1	-	5	714	c.654C>T	c.(652-654)gtC>gtT	p.V218V	ZNF512B_ENST00000217130.3_Silent_p.V218V|ZNF512B_ENST00000369888.1_Silent_p.V218V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	218					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGGTCTGCCGACCGAGACTG	0.597																																						uc002yhl.1		NA																	0					0						c.(652-654)GTC>GTT		zinc finger protein 512B		G		0,4406		0,0,2203	250.0	243.0	245.0		654	-1.8	0.0	20		245	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF512B	NM_020713.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		218/893	62597874	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597874G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.654C>T	20.37:g.62597874G>A							p.V218V	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			5	708	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		218					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.654C>T	CCDS13548.1																																																																																				0.597	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		65	165	0	0	0	0	65	165				
KRTAP6-2	337967	broad.mit.edu	37	21	31971084	31971084	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:31971084C>G	ENST00000334897.3	-	1	135	c.110G>C	c.(109-111)tGc>tCc	p.C37S	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	37						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCAGGAGCTATA	0.562																																						uc011adc.1		NA																	0					0						c.(109-111)TGC>TCC		keratin associated protein 6-2							125.0	105.0	112.0					21																	31971084		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971084C>G	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.110G>C	21.37:g.31971084C>G	ENSP00000334560:p.Cys37Ser					KRTAP22-1_uc011add.1_5'Flank	p.C37S	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			1	110	-			37						Missense_Mutation	SNP	ENST00000334897.3	37	c.110G>C	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	0.219	-1.029801	0.02045	.	.	ENSG00000186930	ENST00000334897	T	0.09255	3.0	4.05	-0.179	0.13299	.	1.589570	0.04728	U	0.420555	T	0.08758	0.0217	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.41088	-0.9528	9	0.87932	D	0	.	3.8431	0.08923	0.0:0.4758:0.1809:0.3433	.	37	Q3LI66	KRA62_HUMAN	S	37	ENSP00000334560:C37S	ENSP00000334560:C37S	C	-	2	0	KRTAP6-2	30892955	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.465000	0.35299	-0.028000	0.13850	-0.181000	0.13052	TGC		0.562	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			14	39	0	0	0	0	14	39				
SYNJ1	8867	broad.mit.edu	37	21	34018775	34018775	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:34018775C>A	ENST00000322229.7	-	23	3174	c.3175G>T	c.(3175-3177)Ggt>Tgt	p.G1059C	SYNJ1_ENST00000382491.3_Missense_Mutation_p.G1054C|SYNJ1_ENST00000382499.2_Missense_Mutation_p.G1098C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1098C|SYNJ1_ENST00000357345.3_Missense_Mutation_p.G1059C			O43426	SYNJ1_HUMAN	synaptojanin 1	1059	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTACAGGACCCTCTGATATT	0.517																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(3292-3294)GGT>TGT		synaptojanin 1 isoform a							184.0	179.0	181.0					21																	34018775		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34018775C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3175G>T	21.37:g.34018775C>A	ENSP00000322234:p.Gly1059Cys					SYNJ1_uc011ads.1_Missense_Mutation_p.G1054C|SYNJ1_uc002yqf.2_Missense_Mutation_p.G1059C|SYNJ1_uc002yqg.2_Missense_Mutation_p.G1054C|SYNJ1_uc002yqi.2_Missense_Mutation_p.G1098C	p.G1098C	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			24	3292	-			1059			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3292G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661697	0.47572	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93811	-2.43;-3.26;-3.29;-2.46;-2.45	5.31	1.23	0.21249	.	0.881349	0.10077	N	0.718900	D	0.89181	0.6642	L	0.27053	0.805	0.09310	N	1	B;P;B;P;P	0.45348	0.39;0.856;0.006;0.82;0.8	B;B;B;P;B	0.45406	0.224;0.219;0.004;0.479;0.303	T	0.79522	-0.1769	10	0.56958	D	0.05	.	8.7206	0.34439	0.3989:0.5324:0.0:0.0687	.	1054;1098;1059;1059;1059	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	C	1054;1059;1098;1098;1059	ENSP00000371931:G1054C;ENSP00000349903:G1059C;ENSP00000371939:G1098C;ENSP00000409667:G1098C;ENSP00000322234:G1059C	ENSP00000322234:G1059C	G	-	1	0	SYNJ1	32940646	0.521000	0.26258	0.007000	0.13788	0.457000	0.32468	2.067000	0.41461	-0.055000	0.13244	-0.122000	0.15005	GGT		0.517	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				61	99	1	0	3.96e-38	5.78e-38	61	99				
CLIC6	54102	broad.mit.edu	37	21	36042977	36042977	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:36042977G>C	ENST00000360731.3	+	1	1290	c.1290G>C	c.(1288-1290)gcG>gcC	p.A430A	CLIC6_ENST00000349499.2_Silent_p.A430A			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	430						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGAGGCCGCGCGCGTGAACG	0.741																																						uc010gmt.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1288-1290)GCG>GCC		chloride intracellular channel 6							6.0	10.0	9.0					21																	36042977		1874	3757	5631	SO:0001819	synonymous_variant	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36042977G>C	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1290G>C	21.37:g.36042977G>C						CLIC6_uc002yuf.1_Silent_p.A430A	p.A430A	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			1	1290	+			430					A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37	c.1290G>C																																																																																					0.741	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			5	4	0	0	0	0	5	4				
DSCAM	1826	broad.mit.edu	37	21	41505903	41505903	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:41505903T>A	ENST00000400454.1	-	19	3917	c.3440A>T	c.(3439-3441)cAg>cTg	p.Q1147L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1147	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CAGTGAAGGCTGTGTGGTGGT	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3439-3441)CAG>CTG		Down syndrome cell adhesion molecule isoform							90.0	96.0	94.0					21																	41505903		2103	4257	6360	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.chr21:41505903T>A	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.3440A>T	21.37:g.41505903T>A	ENSP00000383303:p.Gln1147Leu					DSCAM_uc002yyr.1_RNA	p.Q1147L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			19	3892	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1147			Extracellular (Potential).|Fibronectin type-III 3.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3440A>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629596	0.67015	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57107	0.42;0.42	5.39	5.39	0.77823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.115653	0.64402	D	0.000015	T	0.45816	0.1361	L	0.41573	1.285	0.47094	D	0.999317	P	0.34837	0.472	B	0.34536	0.185	T	0.42464	-0.9450	10	0.38643	T	0.18	.	15.4031	0.74858	0.0:0.0:0.0:1.0	.	1147	O60469	DSCAM_HUMAN	L	1147;899	ENSP00000383303:Q1147L;ENSP00000385342:Q899L	ENSP00000383303:Q1147L	Q	-	2	0	DSCAM	40427773	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.093000	0.71422	2.033000	0.60031	0.533000	0.62120	CAG		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		18	38	0	0	0	0	18	38				
MCM3AP	8888	broad.mit.edu	37	21	47704494	47704494	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704494C>G	ENST00000397708.1	-	2	961	c.707G>C	c.(706-708)aGa>aCa	p.R236T	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R236T|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	236	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTAGGTCCTCTCTTCTCTTC	0.393																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(706-708)AGA>ACA		minichromosome maintenance complex component 3							85.0	89.0	88.0					21																	47704494		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704494C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.707G>C	21.37:g.47704494C>G	ENSP00000380820:p.Arg236Thr					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.R236T	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	743	-	Breast(49;0.112)		236					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.707G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890560	0.33348	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.17854	2.25;2.25	5.42	2.62	0.31277	.	0.398375	0.28618	N	0.014714	T	0.09949	0.0244	L	0.29908	0.895	0.30511	N	0.769438	B	0.19706	0.038	B	0.19391	0.025	T	0.16988	-1.0384	10	0.22109	T	0.4	-16.5336	4.2907	0.10878	0.0:0.5137:0.1612:0.3251	.	236	O60318	MCM3A_HUMAN	T	236	ENSP00000380820:R236T;ENSP00000291688:R236T	ENSP00000291688:R236T	R	-	2	0	MCM3AP	46528922	0.990000	0.36364	0.740000	0.30986	0.930000	0.56654	0.691000	0.25467	0.655000	0.30866	0.563000	0.77884	AGA		0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		22	67	0	0	0	0	22	67				
MCM3AP	8888	broad.mit.edu	37	21	47704507	47704507	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47704507C>G	ENST00000397708.1	-	2	948	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E232Q|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	232	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCTCTTCCTCTACATTTTGG	0.388																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(694-696)GAG>CAG		minichromosome maintenance complex component 3							83.0	88.0	86.0					21																	47704507		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704507C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.694G>C	21.37:g.47704507C>G	ENSP00000380820:p.Glu232Gln					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.E232Q	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	730	-	Breast(49;0.112)		232					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.694G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009351	0.54361	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18338	2.22;2.22	5.55	4.66	0.58398	.	0.305164	0.30732	N	0.008990	T	0.21674	0.0522	L	0.29908	0.895	0.31502	N	0.664681	D	0.69078	0.997	P	0.60789	0.879	T	0.01178	-1.1427	10	0.09338	T	0.73	-31.1733	12.7592	0.57354	0.0:0.92:0.0:0.08	.	232	O60318	MCM3A_HUMAN	Q	232	ENSP00000380820:E232Q;ENSP00000291688:E232Q	ENSP00000291688:E232Q	E	-	1	0	MCM3AP	46528935	0.953000	0.32496	0.991000	0.47740	0.875000	0.50365	2.172000	0.42463	2.606000	0.88127	0.655000	0.94253	GAG		0.388	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		21	61	0	0	0	0	21	61				
ZNF280B	140883	broad.mit.edu	37	22	22843555	22843555	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:22843555C>G	ENST00000406426.1	-	4	911	c.169G>C	c.(169-171)Gtt>Ctt	p.V57L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.V57L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTTGAAACGACTGGTTTT	0.408																																						uc002zwc.1		NA																	0				ovary(2)	2						c.(169-171)GTT>CTT		zinc finger protein 280B							144.0	131.0	135.0					22																	22843555		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843555C>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.169G>C	22.37:g.22843555C>G	ENSP00000385998:p.Val57Leu					LOC96610_uc011aim.1_Intron	p.V57L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	945	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	57						Missense_Mutation	SNP	ENST00000406426.1	37	c.169G>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133104	0.56828	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.22336	1.96;1.96	4.55	2.48	0.30137	.	.	.	.	.	T	0.20495	0.0493	L	0.56769	1.78	0.22975	N	0.998488	P	0.35011	0.48	B	0.35114	0.196	T	0.17501	-1.0367	9	0.59425	D	0.04	.	6.2558	0.20874	0.0:0.7801:0.0:0.2199	.	57	Q86YH2	Z280B_HUMAN	L	57	ENSP00000385998:V57L;ENSP00000353586:V57L	ENSP00000353586:V57L	V	-	1	0	ZNF280B	21173555	0.919000	0.31177	0.998000	0.56505	0.994000	0.84299	0.786000	0.26844	1.270000	0.44297	0.585000	0.79938	GTT		0.408	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		30	56	0	0	0	0	30	56				
GNAZ	2781	broad.mit.edu	37	22	23465617	23465617	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:23465617G>A	ENST00000248996.4	+	3	1733	c.1067G>A	c.(1066-1068)tGa>tAa	p.*356*	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	0					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)		GGCCTTTGCTGAGGAGCTGGG	0.587																																						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(1066-1068)TGA>TAA		guanine nucleotide binding protein, alpha z							42.0	34.0	36.0					22																	23465617		2202	4300	6502	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.chr22:23465617G>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.1067G>A	22.37:g.23465617G>A						RTDR1_uc002zwt.2_Intron	p.*356*	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1604	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		356					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.1067G>A	CCDS13804.1																																																																																				0.587	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		6	4	0	0	0	0	6	4				
SUSD2	56241	broad.mit.edu	37	22	24584279	24584279	+	Missense_Mutation	SNP	C	C	A	rs150371467		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24584279C>A	ENST00000358321.3	+	14	2689	c.2428C>A	c.(2428-2430)Cgc>Agc	p.R810S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	810					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTGCTGCGCCGCAGGAAGGG	0.657																																						uc002zzn.1		NA																	0				skin(1)	1						c.(2428-2430)CGC>AGC		sushi domain containing 2 precursor							62.0	65.0	64.0					22																	24584279		2203	4299	6502	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24584279C>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2428C>A	22.37:g.24584279C>A	ENSP00000351075:p.Arg810Ser						p.R810S	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			14	2472	+			810			Cytoplasmic (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.2428C>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491347	0.26774	.	.	ENSG00000099994	ENST00000358321	T	0.22336	1.96	4.71	2.41	0.29592	.	0.688144	0.13197	N	0.406262	T	0.14227	0.0344	L	0.27053	0.805	0.09310	N	1	P	0.38827	0.649	B	0.34824	0.19	T	0.12477	-1.0546	10	0.66056	D	0.02	-29.7141	10.2863	0.43568	0.351:0.649:0.0:0.0	.	810	Q9UGT4	SUSD2_HUMAN	S	810	ENSP00000351075:R810S	ENSP00000351075:R810S	R	+	1	0	SUSD2	22914279	0.007000	0.16637	0.327000	0.25402	0.238000	0.25445	1.744000	0.38268	1.100000	0.41517	0.555000	0.69702	CGC		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		8	20	1	0	0.00621372	0.00653871	8	20				
GGT5	2687	broad.mit.edu	37	22	24622662	24622662	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:24622662C>G	ENST00000327365.4	-	7	1391	c.975G>C	c.(973-975)acG>acC	p.T325T	GGT5_ENST00000418439.2_Silent_p.T248T|GGT5_ENST00000263112.7_Silent_p.T293T|GGT5_ENST00000398292.3_Silent_p.T325T	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	325					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.T325T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAAACTTGAGCGTCTCTACAA	0.612																																						uc002zzo.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(973-975)ACG>ACC		gamma-glutamyltransferase 5 isoform b							122.0	110.0	114.0					22																	24622662		2203	4300	6503	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622662C>G	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.975G>C	22.37:g.24622662C>G						GGT5_uc002zzp.3_Silent_p.T325T|GGT5_uc002zzr.3_Silent_p.T293T|GGT5_uc002zzq.3_Silent_p.T293T|GGT5_uc011ajm.1_Silent_p.T248T|GGT5_uc011ajn.1_RNA	p.T325T	NM_004121	NP_004112	P36269	GGT5_HUMAN			7	1392	-			325			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.975G>C	CCDS13825.1																																																																																				0.612	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		21	61	0	0	0	0	21	61				
CRYBB1	1414	broad.mit.edu	37	22	26995525	26995525	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:26995525G>T	ENST00000215939.2	-	6	818	c.688C>A	c.(688-690)Cgt>Agt	p.R230S	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	230	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGCAGGCGACGCAGGGACTGC	0.627																																						uc003acy.1		NA																	0				ovary(1)	1						c.(688-690)CGT>AGT		crystallin, beta B1							70.0	60.0	63.0					22																	26995525		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26995525G>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.688C>A	22.37:g.26995525G>T	ENSP00000215939:p.Arg230Ser						p.R230S	NM_001887	NP_001878	P53674	CRBB1_HUMAN			6	758	-			230			Beta/gamma crystallin 'Greek key' 4.			Missense_Mutation	SNP	ENST00000215939.2	37	c.688C>A	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234511	0.79800	.	.	ENSG00000100122	ENST00000215939	D	0.82081	-1.57	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96272	0.9199	10	0.87932	D	0	.	16.1035	0.81203	0.0:0.0:1.0:0.0	.	230	P53674	CRBB1_HUMAN	S	230	ENSP00000215939:R230S	ENSP00000215939:R230S	R	-	1	0	CRYBB1	25325525	1.000000	0.71417	0.942000	0.38095	0.867000	0.49689	4.975000	0.63777	2.351000	0.79841	0.563000	0.77884	CGT		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		21	45	1	0	8.1e-08	9.71e-08	21	45				
RFPL1	5988	broad.mit.edu	37	22	29835041	29835041	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:29835041G>A	ENST00000354373.2	+	1	470	c.261G>A	c.(259-261)aaG>aaA	p.K87K	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	87							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTCTCAGAAGAACAAAATCA	0.517																																						uc003afn.2		NA																	0					0						c.(259-261)AAG>AAA		ret finger protein-like 1							139.0	129.0	133.0					22																	29835041		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29835041G>A	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.261G>A	22.37:g.29835041G>A						RFPL1S_uc003afm.1_RNA	p.K87K	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	470	+			87					Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.261G>A	CCDS13857.2																																																																																				0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		28	70	0	0	0	0	28	70				
DUSP18	150290	broad.mit.edu	37	22	31059931	31059931	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:31059931G>C	ENST00000334679.3	-	2	565	c.60C>G	c.(58-60)ctC>ctG	p.L20L	DUSP18_ENST00000403268.1_Silent_p.L20L|DUSP18_ENST00000407308.1_Silent_p.L20L|DUSP18_ENST00000404885.1_Silent_p.L20L|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	20					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TTATCTGCGAGAGGCCGCTGA	0.552																																						uc003aiu.2		NA																	0					0						c.(58-60)CTC>CTG		dual specificity phosphatase 18							73.0	67.0	69.0					22																	31059931		2203	4300	6503	SO:0001819	synonymous_variant	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059931G>C	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.60C>G	22.37:g.31059931G>C						SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.L20L	p.L20L	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN			2	561	-			20					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.60C>G	CCDS13883.1																																																																																				0.552	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			15	40	0	0	0	0	15	40				
GTSE1	51512	broad.mit.edu	37	22	46722418	46722418	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:46722418C>T	ENST00000454366.1	+	9	1803	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	512					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTCAGCCTTGCCCACACCCGC	0.652																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NA																	0				ovary(1)	1						c.(1591-1593)CCC>TCC		G-2 and S-phase expressed 1							47.0	43.0	44.0					22																	46722418		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46722418C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1591C>T	22.37:g.46722418C>T	ENSP00000415430:p.Pro531Ser					GTSE1_uc011aqz.1_Missense_Mutation_p.P378S|GTSE1_uc003bhl.1_Missense_Mutation_p.P156S|GTSE1_uc003bhm.1_Missense_Mutation_p.P156S|GTSE1_uc003bhn.2_5'Flank	p.P531S	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	9	1803	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	512					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1591C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132204	0.56828	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.60548	0.18	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.78801	2.425	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79569	-0.1749	10	0.87932	D	0	-23.7521	15.0423	0.71799	0.0:1.0:0.0:0.0	.	512;491	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	S	531;491	ENSP00000415430:P531S	ENSP00000354634:P491S	P	+	1	0	GTSE1	45101082	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	3.643000	0.54374	2.454000	0.82982	0.491000	0.48974	CCC		0.652	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		21	37	0	0	0	0	21	37				
PLCL2	23228	broad.mit.edu	37	3	17052928	17052928	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:17052928G>C	ENST00000418129.2	+	2	2177	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	PLCL2_ENST00000396755.2_Missense_Mutation_p.C571S|PLCL2_ENST00000432376.1_Missense_Mutation_p.C571S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	697					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAATGTGGTTGCCAAATTGTA	0.418																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2065-2067)TGC>TCC		phospholipase C-like 2 isoform 1							90.0	92.0	91.0					3																	17052928		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052928G>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1712G>C	3.37:g.17052928G>C	ENSP00000409637:p.Cys571Ser					PLCL2_uc011awd.1_Missense_Mutation_p.C571S	p.C689S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2171	+			697			PI-PLC Y-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2066G>C	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.064642|3.064642	0.55432|0.55432	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.69040	.|-0.37;-0.37;-0.37	5.36|5.36	4.49|4.49	0.54785|0.54785	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81664|0.81664	0.4870|0.4870	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.84113|0.84113	0.0402|0.0402	4|9	.|0.66056	.|D	.|0.02	.|.	14.0851|14.0851	0.64951|0.64951	0.0726:0.0:0.9274:0.0|0.0726:0.0:0.9274:0.0	.|.	.|697	.|Q9UPR0	.|PLCL2_HUMAN	P|S	315|571;698;571;571	.|ENSP00000409637:C571S;ENSP00000379979:C571S;ENSP00000412836:C571S	.|ENSP00000285094:C698S	A|C	+|+	1|2	0|0	PLCL2|PLCL2	17027932|17027932	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.993000|0.993000	0.82548|0.82548	9.869000|9.869000	0.99810|0.99810	1.263000|1.263000	0.44181|0.44181	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			29	31	0	0	0	0	29	31				
LYZL4	131375	broad.mit.edu	37	3	42445602	42445602	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:42445602T>C	ENST00000287748.3	-	4	582	c.307A>G	c.(307-309)Aat>Gat	p.N103D	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.N103D	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	103					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TTCTCTAAATTAGGATTCAGT	0.388																																						uc003cle.2		NA																	0				central_nervous_system(1)	1						c.(307-309)AAT>GAT		lysozyme-like 4 precursor							146.0	133.0	138.0					3																	42445602		2203	4300	6503	SO:0001583	missense	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42445602T>C	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.307A>G	3.37:g.42445602T>C	ENSP00000287748:p.Asn103Asp						p.N103D	NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	4	556	-			103						Missense_Mutation	SNP	ENST00000287748.3	37	c.307A>G	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	T	0.724	-0.782511	0.02907	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.36520	1.25;1.25	4.41	-3.54	0.04653	Lysozyme-like domain (1);Glycoside hydrolase, family 22, conserved site (1);	0.315821	0.27567	N	0.018794	T	0.12987	0.0315	N	0.04636	-0.2	0.18873	N	0.999983	B	0.13594	0.008	B	0.18263	0.021	T	0.32481	-0.9905	10	0.10377	T	0.69	-8.17	11.3988	0.49858	0.0:0.6635:0.0:0.3365	.	103	Q96KX0	LYZL4_HUMAN	D	103	ENSP00000287748:N103D;ENSP00000387897:N103D	ENSP00000287748:N103D	N	-	1	0	LYZL4	42420606	0.000000	0.05858	0.373000	0.26003	0.062000	0.15995	-1.257000	0.02866	-0.604000	0.05760	-0.263000	0.10527	AAT		0.388	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		18	15	0	0	0	0	18	15				
ACKR2	1238	broad.mit.edu	37	3	42906247	42906247	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:42906247C>G	ENST00000422265.1	+	3	428	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	ACKR2_ENST00000442925.1_Missense_Mutation_p.L85V|ACKR2_ENST00000273145.2_Missense_Mutation_p.L85V|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	85					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGAGATCTATCTGCTGAATCT	0.537																																						uc003cme.2		NA																	0				lung(4)|skin(1)	5						c.(253-255)CTG>GTG		chemokine binding protein 2							178.0	158.0	165.0					3																	42906247		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906247C>G	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.253C>G	3.37:g.42906247C>G	ENSP00000416996:p.Leu85Val					CCBP2_uc003cmd.1_Missense_Mutation_p.L85V|CCBP2_uc003cmf.2_Missense_Mutation_p.L85V|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.L85V	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	432	+			85			Cytoplasmic (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.253C>G	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350824	0.61183	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.51574	0.7;0.7;0.7	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	N	0.001653	T	0.67505	0.2900	M	0.71920	2.185	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.69307	0.963;0.912	T	0.67639	-0.5619	9	.	.	.	.	17.4851	0.87685	0.0:1.0:0.0:0.0	.	85;85	O00590;Q7Z7I1	CCBP2_HUMAN;.	V	85	ENSP00000396150:L85V;ENSP00000416996:L85V;ENSP00000273145:L85V	.	L	+	1	2	CCBP2	42881251	0.403000	0.25319	0.999000	0.59377	0.650000	0.38633	1.068000	0.30629	2.477000	0.83638	0.563000	0.77884	CTG		0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		53	51	0	0	0	0	53	51				
TCAIM	285343	broad.mit.edu	37	3	44449031	44449031	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44449031G>C	ENST00000342649.4	+	11	1775	c.1348G>C	c.(1348-1350)Gtg>Ctg	p.V450L	TCAIM_ENST00000417237.1_Missense_Mutation_p.V450L	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	450						mitochondrion (GO:0005739)											TATACAAATGGTGGATTGTTG	0.358																																						uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1348-1350)GTG>CTG		hypothetical protein LOC285343 isoform 1							102.0	105.0	104.0					3																	44449031		2203	4300	6503	SO:0001583	missense	285343					mitochondrion		g.chr3:44449031G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1348G>C	3.37:g.44449031G>C	ENSP00000341539:p.Val450Leu					C3orf23_uc003cnd.3_Missense_Mutation_p.V450L|C3orf23_uc003cne.3_Missense_Mutation_p.V306L	p.V450L	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	11	1593	+			450					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1348G>C	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626555	0.66901	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.51325	0.71;0.71	6.07	5.02	0.67125	.	0.227073	0.42420	D	0.000718	T	0.34366	0.0895	L	0.36672	1.1	0.40803	D	0.983351	B	0.28850	0.225	B	0.26517	0.07	T	0.26467	-1.0102	10	0.52906	T	0.07	.	7.0515	0.25075	0.2306:0.0:0.7694:0.0	.	450	Q8N3R3	CC023_HUMAN	L	450	ENSP00000402581:V450L;ENSP00000341539:V450L	ENSP00000341539:V450L	V	+	1	0	C3orf23	44424035	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	3.825000	0.55730	2.884000	0.98904	0.655000	0.94253	GTG		0.358	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		19	28	0	0	0	0	19	28				
ZNF660	285349	broad.mit.edu	37	3	44636619	44636619	+	Missense_Mutation	SNP	C	C	T	rs549519379		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44636619C>T	ENST00000322734.2	+	3	1267	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAAAGCCTATCGGTATAGTTC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19589	0.001		0.0	False		,,,				2504	0.0					uc003cnl.1		NA																	0					0						c.(934-936)CGG>TGG		zinc finger protein 660							70.0	71.0	71.0					3																	44636619		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636619C>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.934C>T	3.37:g.44636619C>T	ENSP00000324605:p.Arg312Trp						p.R312W	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1267	+			312			C2H2-type 10.		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.934C>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877644	0.51801	.	.	ENSG00000144792	ENST00000322734	T	0.18174	2.23	4.21	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44244	0.1284	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.48885	-0.8995	8	.	.	.	.	7.5786	0.27950	0.0:0.7295:0.1722:0.0982	.	312	Q6AZW8	ZN660_HUMAN	W	312	ENSP00000324605:R312W	.	R	+	1	2	ZNF660	44611623	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.354000	0.07681	2.330000	0.79161	0.650000	0.86243	CGG		0.408	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		14	29	0	0	0	0	14	29				
TGM4	7047	broad.mit.edu	37	3	44945437	44945437	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:44945437G>A	ENST00000296125.4	+	9	1101	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	345					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGGCTACGACGGCTGGCAGGC	0.652																																						uc003coc.3		NA																	0				ovary(1)	1						c.(1033-1035)GGC>AGC		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						85.0	89.0	87.0					3																	44945437		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44945437G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1033G>A	3.37:g.44945437G>A	ENSP00000296125:p.Gly345Ser						p.G345S	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	9	1106	+			345					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1033G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253533	0.59212	.	.	ENSG00000163810	ENST00000296125	D	0.86097	-2.07	1.91	-0.327	0.12694	Transglutaminase-like (2);	0.000000	0.45361	U	0.000364	D	0.91908	0.7438	M	0.91920	3.255	0.51012	D	0.999908	D	0.89917	1.0	D	0.97110	1.0	D	0.89303	0.3627	10	0.87932	D	0	.	8.3175	0.32108	0.2013:0.0:0.7987:0.0	.	345	P49221	TGM4_HUMAN	S	345	ENSP00000296125:G345S	ENSP00000296125:G345S	G	+	1	0	TGM4	44920441	1.000000	0.71417	0.022000	0.16811	0.011000	0.07611	4.057000	0.57455	-0.388000	0.07797	-0.657000	0.03884	GGC		0.652	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		35	46	0	0	0	0	35	46				
USP19	10869	broad.mit.edu	37	3	49149744	49149744	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:49149744C>A	ENST00000398888.2	-	18	2747	c.2429G>T	c.(2428-2430)cGg>cTg	p.R810L	USP19_ENST00000398896.1_Missense_Mutation_p.R618L|USP19_ENST00000417901.1_Missense_Mutation_p.R913L|USP19_ENST00000398892.3_Missense_Mutation_p.R850L|USP19_ENST00000453664.1_Missense_Mutation_p.R901L|USP19_ENST00000434032.2_Missense_Mutation_p.R911L|USP19_ENST00000398898.2_Missense_Mutation_p.R850L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	810	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)		ACGGTAGCACCGGGTACAGCG	0.617																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2428-2430)CGG>CTG		ubiquitin thioesterase 19							45.0	53.0	51.0					3																	49149744		2077	4201	6278	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.chr3:49149744C>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.2429G>T	3.37:g.49149744C>A	ENSP00000381863:p.Arg810Leu					USP19_uc003cwa.2_Missense_Mutation_p.R618L|USP19_uc003cvz.3_Missense_Mutation_p.R913L|USP19_uc011bcg.1_Missense_Mutation_p.R901L|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R568L|USP19_uc011bch.1_Missense_Mutation_p.R911L	p.R810L	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)	18	2590	-			810			Cytoplasmic (Potential).|MYND-type.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2429G>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095885	0.94197	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.25085	1.86;1.82;1.93;1.93;1.82;1.95;1.93	5.8	5.8	0.92144	Zinc finger, MYND-type (3);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.108379	0.64402	D	0.000012	T	0.59918	0.2229	M	0.87381	2.88	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.985	T	0.65138	-0.6241	10	0.87932	D	0	-26.5088	19.6455	0.95775	0.0:1.0:0.0:0.0	.	911;901;810;850;618	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	L	618;850;913;901;850;810;911	ENSP00000381870:R618L;ENSP00000381872:R850L;ENSP00000395260:R913L;ENSP00000400090:R901L;ENSP00000381867:R850L;ENSP00000381863:R810L;ENSP00000401197:R911L	ENSP00000381863:R810L	R	-	2	0	USP19	49124748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.976000	0.70484	2.739000	0.93911	0.561000	0.74099	CGG		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		4	6	1	0	1.24e-05	1.4e-05	4	6				
FEZF2	55079	broad.mit.edu	37	3	62358002	62358002	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:62358002G>C	ENST00000283268.3	-	2	836	c.542C>G	c.(541-543)cCg>cGg	p.P181R	PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.P181R|FEZF2_ENST00000475839.1_Missense_Mutation_p.P181R	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	181					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTCAGACGGCGGGTACGCGGT	0.672																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2		NA																	0				lung(1)	1						c.(541-543)CCG>CGG		FEZ family zinc finger 2							17.0	23.0	21.0					3																	62358002		2200	4291	6491	SO:0001583	missense	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358002G>C	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.542C>G	3.37:g.62358002G>C	ENSP00000283268:p.Pro181Arg					FEZF2_uc003dli.2_Missense_Mutation_p.P181R	p.P181R	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	1	749	-		Lung SC(41;0.0262)	181					A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.542C>G	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899809	0.33535	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08008	3.14;3.14;3.14	5.15	5.15	0.70609	.	0.117629	0.64402	D	0.000011	T	0.12135	0.0295	L	0.60455	1.87	0.45822	D	0.998699	P	0.46220	0.874	B	0.38296	0.27	T	0.02431	-1.1160	10	0.87932	D	0	-10.2731	18.2083	0.89861	0.0:0.0:1.0:0.0	.	181	Q8TBJ5	FEZF2_HUMAN	R	181	ENSP00000418589:P181R;ENSP00000283268:P181R;ENSP00000418804:P181R	ENSP00000283268:P181R	P	-	2	0	FEZF2	62333042	0.998000	0.40836	0.999000	0.59377	0.964000	0.63967	2.098000	0.41757	2.412000	0.81896	0.555000	0.69702	CCG		0.672	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		5	2	0	0	0	0	5	2				
DPPA4	55211	broad.mit.edu	37	3	109047837	109047837	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:109047837T>A	ENST00000335658.6	-	6	832	c.778A>T	c.(778-780)Aag>Tag	p.K260*	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	260					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTCTTGCTTTTCTGGAACC	0.517																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(778-780)AAG>TAG		developmental pluripotency associated 4							68.0	59.0	62.0					3																	109047837		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109047837T>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.778A>T	3.37:g.109047837T>A	ENSP00000335306:p.Lys260*					DPPA4_uc011bho.1_Missense_Mutation_p.K161I	p.K260*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	833	-			260					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.778A>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169208	0.78339	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.91	2.57	0.30868	.	0.679700	0.14204	N	0.334491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4528	5.8429	0.18643	0.0:0.2049:0.0:0.7951	.	.	.	.	X	260	.	ENSP00000335306:K260X	K	-	1	0	DPPA4	110530527	0.014000	0.17966	0.008000	0.14137	0.984000	0.73092	1.089000	0.30890	0.997000	0.38969	0.383000	0.25322	AAG		0.517	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		22	19	0	0	0	0	22	19				
SEMA5B	54437	broad.mit.edu	37	3	122662294	122662294	+	Silent	SNP	G	G	T	rs367552115		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:122662294G>T	ENST00000357599.3	-	4	803	c.417C>A	c.(415-417)atC>atA	p.I139I	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000195173.4_Silent_p.I139I|SEMA5B_ENST00000451055.2_Silent_p.I193I	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	139	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGCTCCCACGATGAGCTGGT	0.602																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(415-417)ATC>ATA		semaphorin 5B isoform 1							35.0	38.0	37.0					3																	122662294		2203	4299	6502	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122662294G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.417C>A	3.37:g.122662294G>T						SEMA5B_uc011bju.1_Silent_p.I81I|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.I139I|SEMA5B_uc010hro.1_Silent_p.I81I|SEMA5B_uc010hrp.1_Intron	p.I139I	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	4	721	-			139			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.417C>A	CCDS35491.1																																																																																				0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		9	16	1	0	1.77e-08	2.14e-08	9	16				
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:123333078G>A	ENST00000475616.1	-	31	5618	c.5619C>T	c.(5617-5619)tgC>tgT	p.C1873C	MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000360772.3_Silent_p.C1822C|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000359169.1_Silent_p.C1822C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(5617-5619)TGC>TGT		myosin light chain kinase isoform 1							189.0	187.0	188.0					3																	123333078		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333078G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5619C>T	3.37:g.123333078G>A						uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.C113C|MYLK_uc003egm.2_Silent_p.C112C|MYLK_uc010hrr.2_Silent_p.C308C|MYLK_uc011bjv.1_Silent_p.C673C|MYLK_uc011bjw.1_Silent_p.C1872C|MYLK_uc003egp.2_Silent_p.C1804C|MYLK_uc003egq.2_Silent_p.C1822C|MYLK_uc003egr.2_Silent_p.C1753C|MYLK_uc003egs.2_Silent_p.C1697C	p.C1873C	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5901	-		Lung NSC(201;0.0496)	1873			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5619C>T	CCDS46896.1																																																																																				0.498	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	156	0	0	0	0	4	156				
ZNF148	7707	broad.mit.edu	37	3	125032301	125032301	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:125032301C>T	ENST00000360647.4	-	4	669	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.E62K|ZNF148_ENST00000484491.1_Missense_Mutation_p.E62K|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.E62K	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	62					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGTAACACTTCATCTGCAGCA	0.443																																						uc003ehx.3		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(184-186)GAA>AAA		zinc finger protein 148							318.0	267.0	284.0					3																	125032301		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:125032301C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.184G>A	3.37:g.125032301C>T	ENSP00000353863:p.Glu62Lys					ZNF148_uc003ehz.3_Missense_Mutation_p.E62K|ZNF148_uc010hsa.2_Missense_Mutation_p.E62K|ZNF148_uc003eia.3_Missense_Mutation_p.E62K|ZNF148_uc003ehy.2_Intron	p.E62K	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			4	670	-			62					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.184G>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932405	0.73442	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763;ENST00000495019	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.0	5.0	0.66597	.	0.055187	0.64402	D	0.000001	T	0.06600	0.0169	N	0.19112	0.55	0.80722	D	1	P	0.46987	0.888	B	0.41374	0.355	T	0.40608	-0.9554	10	0.07990	T	0.79	-20.8464	18.4925	0.90853	0.0:1.0:0.0:0.0	.	62	Q9UQR1	ZN148_HUMAN	K	62	ENSP00000353863:E62K;ENSP00000420335:E62K;ENSP00000419322:E62K;ENSP00000420448:E62K	ENSP00000353863:E62K	E	-	1	0	ZNF148	126514991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.845000	0.69437	2.589000	0.87451	0.650000	0.86243	GAA		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		96	52	0	0	0	0	96	52				
RHO	6010	broad.mit.edu	37	3	129249874	129249874	+	Missense_Mutation	SNP	G	G	C	rs139731264		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:129249874G>C	ENST00000296271.3	+	2	611	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	173					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACCCCCACTCGCCGGCTGGTC	0.612																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(517-519)GCC>CCC		rhodopsin	Halothane(DB01159)						62.0	56.0	58.0					3																	129249874		2202	4300	6502	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249874G>C	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.517G>C	3.37:g.129249874G>C	ENSP00000296271:p.Ala173Pro						p.A173P	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	612	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	173			Helical; Name=4; (Potential).		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.517G>C	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	6.094	0.385673	0.11524	.	.	ENSG00000163914	ENST00000296271	T	0.72394	-0.65	5.26	-1.57	0.08506	GPCR, rhodopsin-like superfamily (1);	0.971987	0.08510	N	0.935079	T	0.56046	0.1959	L	0.34521	1.04	0.09310	N	1	B	0.30406	0.278	B	0.33568	0.166	T	0.51888	-0.8648	10	0.87932	D	0	.	3.2941	0.06960	0.1248:0.1418:0.3234:0.4101	.	173	P08100	OPSD_HUMAN	P	173	ENSP00000296271:A173P	ENSP00000296271:A173P	A	+	1	0	RHO	130732564	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.033000	0.13754	-0.296000	0.08947	-2.048000	0.00412	GCC		0.612	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		15	36	0	0	0	0	15	36				
COL6A6	131873	broad.mit.edu	37	3	130293227	130293227	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:130293227G>A	ENST00000358511.6	+	7	3436	c.3405G>A	c.(3403-3405)gtG>gtA	p.V1135V	COL6A6_ENST00000453409.2_Silent_p.V1135V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1135	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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						TCTACTCCGTGGGCATTGGGG	0.552																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3403-3405)GTG>GTA		collagen type VI alpha 6 precursor							73.0	80.0	78.0					3																	130293227		2009	4179	6188	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293227G>A	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.3405G>A	3.37:g.130293227G>A							p.V1135V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3436	+			1135			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3405G>A	CCDS46911.1																																																																																				0.552	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		45	28	0	0	0	0	45	28				
CLSTN2	64084	broad.mit.edu	37	3	140167468	140167468	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:140167468A>T	ENST00000458420.3	+	6	1085	c.895A>T	c.(895-897)Aca>Tca	p.T299S	RP11-68L1.2_ENST00000502712.1_RNA|RP11-68L1.2_ENST00000509191.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	299					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						CCAGATCGTCACAGAGCTGCA	0.532										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(895-897)ACA>TCA		calsyntenin 2 precursor							144.0	143.0	143.0					3																	140167468		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140167468A>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.895A>T	3.37:g.140167468A>T	ENSP00000402460:p.Thr299Ser	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.T299S	p.T299S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			6	1085	+			299			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.895A>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362670	0.24684	.	.	ENSG00000158258	ENST00000458420	T	0.42513	0.97	5.2	1.82	0.25136	.	0.589866	0.17172	N	0.184260	T	0.23133	0.0559	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19353	-1.0308	10	0.87932	D	0	-10.5283	10.6072	0.45400	0.872:0.0:0.128:0.0	.	299	Q9H4D0	CSTN2_HUMAN	S	299	ENSP00000402460:T299S	ENSP00000402460:T299S	T	+	1	0	CLSTN2	141650158	0.141000	0.22595	0.128000	0.21923	0.340000	0.28889	1.230000	0.32612	-0.129000	0.11620	-0.215000	0.12644	ACA		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		35	127	0	0	0	0	35	127				
MME	4311	broad.mit.edu	37	3	154802866	154802866	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:154802866C>G	ENST00000460393.1	+	3	299	c.179C>G	c.(178-180)tCa>tGa	p.S60*	MME_ENST00000462745.1_Nonsense_Mutation_p.S60*|MME_ENST00000493237.1_Nonsense_Mutation_p.S60*|MME_ENST00000492661.1_Nonsense_Mutation_p.S60*|MME_ENST00000382989.3_Nonsense_Mutation_p.S60*|MME_ENST00000360490.2_Nonsense_Mutation_p.S60*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	60					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	tgcaagtcatcagactgcata	0.244																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(178-180)TCA>TGA		membrane metallo-endopeptidase	Candoxatril(DB00616)						35.0	38.0	37.0					3																	154802866		2182	4254	6436	SO:0001587	stop_gained	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802866C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.179C>G	3.37:g.154802866C>G	ENSP00000418525:p.Ser60*					MME_uc003fab.1_Nonsense_Mutation_p.S60*|MME_uc003fac.1_Nonsense_Mutation_p.S60*|MME_uc003fad.1_Nonsense_Mutation_p.S60*|MME_uc003fae.1_Nonsense_Mutation_p.S60*	p.S60*	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		3	390	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	60			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Nonsense_Mutation	SNP	ENST00000460393.1	37	c.179C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240577	0.95240	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	.	.	.	4.31	4.31	0.51392	.	0.555498	0.17964	N	0.156077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	1.7719	12.6588	0.56801	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000353679:S60X	S	+	2	0	MME	156285560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.321000	0.51999	2.122000	0.65172	0.462000	0.41574	TCA		0.244	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		42	12	0	0	0	0	42	12				
VEPH1	79674	broad.mit.edu	37	3	157146169	157146169	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:157146169G>T	ENST00000362010.2	-	5	945	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Missense_Mutation_p.P213Q|VEPH1_ENST00000392833.2_Missense_Mutation_p.P213Q|VEPH1_ENST00000392832.2_Missense_Mutation_p.P213Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	213						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTACTGTTCTGGCTGTTCCAG	0.443																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(637-639)CCA>CAA		ventricular zone expressed PH domain homolog 1							198.0	179.0	186.0					3																	157146169		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157146169G>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.638C>A	3.37:g.157146169G>T	ENSP00000354919:p.Pro213Gln					VEPH1_uc003fbk.1_Missense_Mutation_p.P213Q|VEPH1_uc010hvu.1_Missense_Mutation_p.P213Q	p.P213Q	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	955	-			213					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.638C>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425284	0.11987	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.40225	1.28;1.28;1.28;1.28;1.04	5.57	5.57	0.84162	.	0.419668	0.28360	N	0.015623	T	0.30854	0.0778	N	0.11427	0.14	0.80722	D	1	P;P	0.46220	0.874;0.8	P;B	0.45071	0.468;0.388	T	0.11372	-1.0590	10	0.40728	T	0.16	-30.8329	15.0905	0.72188	0.0:0.1412:0.8588:0.0	.	213;213	Q14D04-2;Q14D04	.;MELT_HUMAN	Q	213;213;213;213;101	ENSP00000376578:P213Q;ENSP00000354919:P213Q;ENSP00000446258:P213Q;ENSP00000376577:P213Q;ENSP00000418963:P101Q	ENSP00000354919:P213Q	P	-	2	0	VEPH1	158628863	0.993000	0.37304	0.116000	0.21606	0.104000	0.19210	4.770000	0.62309	2.599000	0.87857	0.650000	0.86243	CCA		0.443	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		102	28	1	0	5.84e-33	8.49e-33	102	28				
SI	6476	broad.mit.edu	37	3	164724621	164724621	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164724621C>A	ENST00000264382.3	-	37	4451	c.4389G>T	c.(4387-4389)caG>caT	p.Q1463H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1463	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAGGTTTCATCTGTGACCATC	0.358										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4387-4389)CAG>CAT		sucrase-isomaltase	Acarbose(DB00284)						133.0	120.0	125.0					3																	164724621		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724621C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4389G>T	3.37:g.164724621C>A	ENSP00000264382:p.Gln1463His	HNSCC(35;0.089)					p.Q1463H	NM_001041	NP_001032	P14410	SUIS_HUMAN			37	4451	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1463			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4389G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215781	0.22373	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.62	-6.1	0.02138	Glycoside hydrolase, superfamily (1);	0.147219	0.48286	D	0.000197	D	0.89522	0.6739	L	0.46947	1.48	0.23144	N	0.998225	P	0.43542	0.81	P	0.49953	0.627	D	0.85663	0.1290	10	0.62326	D	0.03	.	12.4608	0.55731	0.1041:0.6133:0.0:0.2826	.	1463	P14410	SUIS_HUMAN	H	1463	ENSP00000264382:Q1463H	ENSP00000264382:Q1463H	Q	-	3	2	SI	166207315	0.003000	0.15002	0.002000	0.10522	0.285000	0.27093	-0.115000	0.10741	-1.099000	0.03034	-1.438000	0.01074	CAG		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		40	14	1	0	3.77e-25	5.39e-25	40	14				
SI	6476	broad.mit.edu	37	3	164785240	164785240	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164785240G>C	ENST00000264382.3	-	6	585	c.523C>G	c.(523-525)Cag>Gag	p.Q175E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	175	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTACATACTGATGAGGAACT	0.338										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(523-525)CAG>GAG		sucrase-isomaltase	Acarbose(DB00284)						110.0	116.0	114.0					3																	164785240		2203	4298	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164785240G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.523C>G	3.37:g.164785240G>C	ENSP00000264382:p.Gln175Glu	HNSCC(35;0.089)					p.Q175E	NM_001041	NP_001032	P14410	SUIS_HUMAN			6	585	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	175			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.523C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.715392	0.00706	.	.	ENSG00000090402	ENST00000264382	T	0.13307	2.6	4.92	3.98	0.46160	Glycoside hydrolase-type carbohydrate-binding (1);	0.110176	0.64402	D	0.000011	T	0.03827	0.0108	N	0.02129	-0.67	0.30114	N	0.80634	B	0.15473	0.013	B	0.04013	0.001	T	0.33879	-0.9851	10	0.02654	T	1	.	8.7525	0.34626	0.0:0.3288:0.54:0.1312	.	175	P14410	SUIS_HUMAN	E	175	ENSP00000264382:Q175E	ENSP00000264382:Q175E	Q	-	1	0	SI	166267934	1.000000	0.71417	0.994000	0.49952	0.076000	0.17211	4.101000	0.57769	2.426000	0.82243	0.573000	0.79308	CAG		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		26	147	0	0	0	0	26	147				
SLITRK3	22865	broad.mit.edu	37	3	164907946	164907946	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:164907946T>A	ENST00000475390.1	-	2	1116	c.673A>T	c.(673-675)Atg>Ttg	p.M225L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225					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						TGGAGCTCCATCAGGCTTCTG	0.438										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(673-675)ATG>TTG		slit and trk like 3 protein precursor							71.0	75.0	74.0					3																	164907946		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907946T>A	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.673A>T	3.37:g.164907946T>A	ENSP00000420091:p.Met225Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.M225L	p.M225L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1117	-			225			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.673A>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617156	0.46736	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50277	0.75;0.75	5.86	5.86	0.93980	.	0.000000	0.45867	D	0.000328	T	0.57844	0.2081	L	0.40543	1.245	0.40325	D	0.978869	P	0.40032	0.699	P	0.58130	0.833	T	0.52064	-0.8625	10	0.22706	T	0.39	-24.8247	16.2433	0.82426	0.0:0.0:0.0:1.0	.	225	O94933	SLIK3_HUMAN	L	225	ENSP00000420091:M225L;ENSP00000241274:M225L	ENSP00000241274:M225L	M	-	1	0	SLITRK3	166390640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.289000	0.72696	2.242000	0.73789	0.459000	0.35465	ATG		0.438	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		60	80	0	0	0	0	60	80				
ZBBX	79740	broad.mit.edu	37	3	167068208	167068208	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:167068208C>A	ENST00000392766.2	-	9	868	c.528G>T	c.(526-528)caG>caT	p.Q176H	ZBBX_ENST00000455345.2_Splice_Site_p.Q176H|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Splice_Site_p.Q176H|ZBBX_ENST00000307529.5_Splice_Site_p.Q176H|ZBBX_ENST00000392764.1_Splice_Site_p.Q147H	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGCCATACCTGCAAAAGAG	0.343																																						uc003fep.2		NA																	0				ovary(2)	2						c.(526-528)CAG>CAT		zinc finger, B-box domain containing							166.0	162.0	163.0					3																	167068208		1816	4073	5889	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167068208C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.528+1G>T	3.37:g.167068208C>A						ZBBX_uc011bpc.1_Missense_Mutation_p.Q176H|ZBBX_uc003feq.2_Missense_Mutation_p.Q147H	p.Q176H	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			9	851	-			176					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.528G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551182	0.45383	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.54	5.54	0.83059	.	0.000000	0.31041	U	0.008373	T	0.51702	0.1690	L	0.59436	1.845	0.48040	D	0.999575	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.927	T	0.42616	-0.9441	9	.	.	.	-7.4776	16.9884	0.86347	0.0:1.0:0.0:0.0	.	176;176	A8MT70-2;A8MT70	.;ZBBX_HUMAN	H	176;176;176;176;147	ENSP00000376519:Q176H;ENSP00000376520:Q176H;ENSP00000390232:Q176H;ENSP00000305065:Q176H;ENSP00000376517:Q147H	.	Q	-	3	2	ZBBX	168550902	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	5.092000	0.64511	2.599000	0.87857	0.460000	0.39030	CAG		0.343	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Missense_Mutation	53	242	1	0	8.13e-46	1.19e-45	53	242				
MECOM	2122	broad.mit.edu	37	3	168834254	168834254	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:168834254T>C	ENST00000464456.1	-	7	2042	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	MECOM_ENST00000472280.1_Missense_Mutation_p.Y282C|MECOM_ENST00000494292.1_Missense_Mutation_p.Y469C|MECOM_ENST00000433243.2_Missense_Mutation_p.Y282C|MECOM_ENST00000264674.3_Missense_Mutation_p.Y346C|MECOM_ENST00000468789.1_Missense_Mutation_p.Y281C|MECOM_ENST00000460814.1_Missense_Mutation_p.Y281C|MECOM_ENST00000392736.3_Missense_Mutation_p.Y281C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGCGCCAAAATAGTCAGCAAG	0.493																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(841-843)TAT>TGT		MDS1 and EVI1 complex locus isoform b							322.0	279.0	293.0					3																	168834254		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168834254T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.842A>G	3.37:g.168834254T>C	ENSP00000419770:p.Tyr281Cys					MECOM_uc010hwk.1_Missense_Mutation_p.Y304C|MECOM_uc003ffj.3_Missense_Mutation_p.Y346C|MECOM_uc011bpi.1_Missense_Mutation_p.Y282C|MECOM_uc003ffn.3_Missense_Mutation_p.Y281C|MECOM_uc003ffk.2_Missense_Mutation_p.Y281C|MECOM_uc003ffl.2_Missense_Mutation_p.Y441C|MECOM_uc011bpj.1_Missense_Mutation_p.Y469C|MECOM_uc011bpk.1_Missense_Mutation_p.Y271C|MECOM_uc010hwn.2_Missense_Mutation_p.Y469C	p.Y281C	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1111	-			281					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.842A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904995	0.52333	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07567	3.23;3.23;3.18;3.32;3.19;3.23;3.18;3.32	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000011	T	0.27278	0.0669	L	0.58810	1.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.997	T	0.00300	-1.1835	10	0.87932	D	0	-15.7646	16.5582	0.84512	0.0:0.0:0.0:1.0	.	469;282;469;346;281	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	C	346;281;281;282;469;281;281;282	ENSP00000264674:Y346C;ENSP00000376493:Y281C;ENSP00000419770:Y281C;ENSP00000420048:Y282C;ENSP00000417899:Y469C;ENSP00000419995:Y281C;ENSP00000420466:Y281C;ENSP00000394302:Y282C	ENSP00000264674:Y346C	Y	-	2	0	MECOM	170316948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	TAT		0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	79	0	0	0	0	15	79				
TNIK	23043	broad.mit.edu	37	3	170843830	170843830	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:170843830C>A	ENST00000436636.2	-	17	2228	c.1884G>T	c.(1882-1884)gtG>gtT	p.V628V	TNIK_ENST00000460047.1_Silent_p.V573V|TNIK_ENST00000470834.1_Silent_p.V599V|TNIK_ENST00000369326.5_Silent_p.V599V|TNIK_ENST00000475336.1_Silent_p.V544V|TNIK_ENST00000488470.1_Silent_p.V573V|TNIK_ENST00000284483.8_Silent_p.V628V|TNIK_ENST00000357327.5_Silent_p.V599V|TNIK_ENST00000538048.1_Silent_p.V573V|TNIK_ENST00000341852.6_Silent_p.V544V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	628	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)			GGTGGGAGGTCACGTTCAGAG	0.577																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1882-1884)GTG>GTT		TRAF2 and NCK interacting kinase isoform 1							78.0	82.0	81.0					3																	170843830		1932	4126	6058	SO:0001819	synonymous_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.chr3:170843830C>A	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.1884G>T	3.37:g.170843830C>A						TNIK_uc003fhi.2_Silent_p.V573V|TNIK_uc003fhj.2_Silent_p.V599V|TNIK_uc003fhk.2_Silent_p.V628V|TNIK_uc003fhl.2_Silent_p.V544V|TNIK_uc003fhm.2_Silent_p.V573V|TNIK_uc003fhn.2_Silent_p.V599V|TNIK_uc003fho.2_Silent_p.V544V	p.V628V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2229	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		628			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.1884G>T	CCDS46956.1																																																																																				0.577	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		18	83	1	0	0.00121646	0.00130453	18	83				
MAP3K13	9175	broad.mit.edu	37	3	185161246	185161246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:185161246C>T	ENST00000265026.3	+	4	1007	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	snoU13_ENST00000459417.1_RNA|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.Q81*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.Q225*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.Q18*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTTGTACTCAGGCCCCATG	0.368																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(673-675)CAG>TAG		mitogen-activated protein kinase kinase kinase							134.0	122.0	126.0					3																	185161246		2203	4300	6503	SO:0001587	stop_gained	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185161246C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.673C>T	3.37:g.185161246C>T	ENSP00000265026:p.Gln225*					MAP3K13_uc011brt.1_Nonsense_Mutation_p.Q18*|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Nonsense_Mutation_p.Q81*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.Q225*|MAP3K13_uc010hyg.2_Intron	p.Q225*	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	939	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		225			Protein kinase.			Nonsense_Mutation	SNP	ENST00000265026.3	37	c.673C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	39	7.473790	0.98306	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	18;225;81;81;225	.	ENSP00000265026:Q225X	Q	+	1	0	MAP3K13	186643940	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	CAG		0.368	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		76	35	0	0	0	0	76	35				
DOK7	285489	broad.mit.edu	37	4	3494900	3494900	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3494900A>T	ENST00000340083.5	+	7	1252	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	DOK7_ENST00000389653.2_Missense_Mutation_p.Q396L|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	396					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)		GTCGAGTACCAGGTGCCCACC	0.692																																						uc003ghd.2		NA																	0				skin(1)	1						c.(1186-1188)CAG>CTG		downstream of tyrosine kinase 7 isoform 1							15.0	15.0	15.0					4																	3494900		2191	4293	6484	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3494900A>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.1187A>T	4.37:g.3494900A>T	ENSP00000344432:p.Gln396Leu					DOK7_uc003ghe.2_Missense_Mutation_p.Q258L|DOK7_uc003ghf.2_Missense_Mutation_p.R138W|DOK7_uc003ghg.1_Missense_Mutation_p.Q86L	p.Q396L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	7	1257	+			396					A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.1187A>T	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	A	12.87	2.067717	0.36470	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.70986	-0.53;-0.4	3.77	3.77	0.43336	.	0.071065	0.56097	D	0.000024	T	0.78175	0.4242	L	0.55834	1.745	0.33563	D	0.59759	D;D;P	0.63046	0.99;0.992;0.895	P;D;P	0.72982	0.871;0.979;0.533	T	0.81963	-0.0692	10	0.34782	T	0.22	-7.3999	11.8998	0.52675	1.0:0.0:0.0:0.0	.	396;258;396	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	L	396	ENSP00000374304:Q396L;ENSP00000344432:Q396L	ENSP00000344432:Q396L	Q	+	2	0	DOK7	3464698	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.635000	0.83286	1.600000	0.50102	0.454000	0.30748	CAG		0.692	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		6	10	0	0	0	0	6	10				
LRPAP1	4043	broad.mit.edu	37	4	3516631	3516631	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:3516631T>A	ENST00000500728.2	-	7	1005	c.859A>T	c.(859-861)Aaa>Taa	p.K287*	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	287	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTCTCGATTTTGGCTTCGAAG	0.592																																						uc003ghi.2		NA																	0				ovary(1)|skin(1)	2						c.(859-861)AAA>TAA		low density lipoprotein receptor-related protein							196.0	156.0	169.0					4																	3516631		2203	4300	6503	SO:0001587	stop_gained	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516631T>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.859A>T	4.37:g.3516631T>A	ENSP00000421922:p.Lys287*						p.K287*	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	7	944	-			287			LDL receptor binding (Potential).|Potential.		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Nonsense_Mutation	SNP	ENST00000500728.2	37	c.859A>T	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	T	36	5.778451	0.96929	.	.	ENSG00000163956	ENST00000500728	.	.	.	4.07	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2703	7.6718	0.28463	0.0:0.1032:0.0:0.8968	.	.	.	.	X	287	.	ENSP00000421922:K287X	K	-	1	0	LRPAP1	3486429	1.000000	0.71417	0.072000	0.20136	0.761000	0.43186	6.753000	0.74904	0.614000	0.30107	0.459000	0.35465	AAA		0.592	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			43	92	0	0	0	0	43	92				
ZNF518B	85460	broad.mit.edu	37	4	10444812	10444812	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:10444812G>A	ENST00000326756.3	-	3	3579	c.3141C>T	c.(3139-3141)gaC>gaT	p.D1047D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1047					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)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTCTTCCTGGTCTTCATACA	0.413																																						uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3139-3141)GAC>GAT		zinc finger protein 518B							104.0	100.0	101.0					4																	10444812		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444812G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.3141C>T	4.37:g.10444812G>A							p.D1047D	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	3628	-			1047			C2H2-type 3.		Q96LN8	Silent	SNP	ENST00000326756.3	37	c.3141C>T	CCDS33960.1																																																																																				0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		31	80	0	0	0	0	31	80				
KCNIP4	80333	broad.mit.edu	37	4	21305453	21305454	+	Intron	DNP	CC	CC	AG			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:21305453_21305454CC>AG	ENST00000382152.2	-	2	229				KCNIP4_ENST00000447367.2_Intron|RP11-120A1.1_ENST00000515680.2_RNA|KCNIP4_ENST00000382150.4_Missense_Mutation_p.G26L|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TTCAATCAGCCCAAACTGTTCC	0.396																																						uc003gqf.1		NA																	0					0						c.(76-78)GGG>CTG		Kv channel interacting protein 4 isoform 4																																				SO:0001627	intron_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:21305453_21305454CC>AG	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.62_62delinsAG	4.37:g.21305453_21305454delinsAG						KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron	p.G26L	NM_147183	NP_671712	Q6PIL6	KCIP4_HUMAN			1	76_77	-		Breast(46;0.134)	Error:Variant_position_missing_in_Q6PIL6_after_alignment					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	DNP	ENST00000382152.2	37	c.76_77GG>CT	CCDS43216.1																																																																																				0.396	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		8	37	0	0	0	0	8	37				
ARAP2	116984	broad.mit.edu	37	4	36075423	36075423	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:36075423G>C	ENST00000303965.4	-	32	5120	c.4631C>G	c.(4630-4632)cCa>cGa	p.P1544R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1544					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTTCCAGCTGGTGGCCATAT	0.413																																						uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4630-4632)CCA>CGA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							148.0	138.0	142.0					4																	36075423		2203	4299	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36075423G>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4631C>G	4.37:g.36075423G>C	ENSP00000302895:p.Pro1544Arg					ARAP2_uc003gso.2_RNA	p.P1544R	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			32	4969	-			1544					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4631C>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655742	0.47467	.	.	ENSG00000047365	ENST00000303965	T	0.08193	3.12	5.56	5.56	0.83823	.	0.321515	0.30227	N	0.010119	T	0.06325	0.0163	L	0.32530	0.975	0.42783	D	0.99387	P	0.42785	0.79	B	0.33690	0.168	T	0.46925	-0.9156	10	0.13108	T	0.6	.	15.0249	0.71663	0.0:0.0:1.0:0.0	.	1544	Q8WZ64	ARAP2_HUMAN	R	1544	ENSP00000302895:P1544R	ENSP00000302895:P1544R	P	-	2	0	ARAP2	35751818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.395000	0.66291	2.621000	0.88768	0.591000	0.81541	CCA		0.413	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		36	67	0	0	0	0	36	67				
PHOX2B	8929	broad.mit.edu	37	4	41749478	41749478	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:41749478G>C	ENST00000226382.2	-	2	676	c.317C>G	c.(316-318)aCc>aGc	p.T106S	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	106					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGGCACTGGTGAAAGTGGT	0.572			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(316-318)ACC>AGC		paired-like homeobox 2b							74.0	78.0	77.0					4																	41749478		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41749478G>C	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.317C>G	4.37:g.41749478G>C	ENSP00000226382:p.Thr106Ser						p.T106S	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			2	677	-			106			Homeobox.		Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.317C>G	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.750750|3.750750	0.69533|0.69533	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000510424|ENST00000226382	.|D	.|0.96774	.|-4.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96156|0.96156	0.8747|0.8747	N|N	0.21448|0.21448	0.665|0.665	0.80722|0.80722	D|D	1|1	.|D	.|0.55605	.|0.972	.|P	.|0.62184	.|0.899	D|D	0.96542|0.96542	0.9401|0.9401	5|10	.|0.56958	.|D	.|0.05	.|.	19.3659|19.3659	0.94461|0.94461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|106	.|Q99453	.|PHX2B_HUMAN	A|S	46|106	.|ENSP00000226382:T106S	.|ENSP00000226382:T106S	P|T	-|-	1|2	0|0	PHOX2B|PHOX2B	41444235|41444235	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.737000|0.737000	0.42083|0.42083	9.588000|9.588000	0.98232|0.98232	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.572	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			23	59	0	0	0	0	23	59				
PDGFRA	5156	broad.mit.edu	37	4	55156559	55156559	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55156559C>A	ENST00000257290.5	+	22	3291	c.2960C>A	c.(2959-2961)gCa>gAa	p.A987E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A747E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	987					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCAGACAATGCATACATTGGT	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2959-2961)GCA>GAA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173.0	148.0	156.0					4																	55156559		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156559C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2960C>A	4.37:g.55156559C>A	ENSP00000257290:p.Ala987Glu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.A747E	p.A987E	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3291	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		987			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2960C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363121	0.24684	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.76578	-1.03;-0.85	5.77	5.77	0.91146	.	0.261873	0.20061	U	0.100091	T	0.72285	0.3441	L	0.53249	1.67	0.80722	D	1	B	0.24258	0.1	B	0.18561	0.022	T	0.68311	-0.5442	10	0.02654	T	1	.	19.9922	0.97370	0.0:1.0:0.0:0.0	.	987	P16234	PGFRA_HUMAN	E	747;987	ENSP00000423325:A747E;ENSP00000257290:A987E	ENSP00000423325:A747E	A	+	2	0	FIP1L1;PDGFRA	54851316	0.548000	0.26473	0.169000	0.22859	0.006000	0.05464	5.168000	0.64978	2.740000	0.93945	0.557000	0.71058	GCA		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		28	82	1	0	2.13e-12	2.77e-12	28	82				
KIT	3815	broad.mit.edu	37	4	55592133	55592133	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55592133A>T	ENST00000288135.5	+	9	1554	c.1457A>T	c.(1456-1458)aAt>aTt	p.N486I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	486	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D479fs*2(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCAAGCACAATGGCACGGTT	0.403		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Deletion - Frameshift(1)	p.N486D(1)|p.D479fs*2(1)	soft_tissue(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1456-1458)AAT>ATT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						139.0	123.0	129.0					4																	55592133		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55592133A>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1457A>T	4.37:g.55592133A>T	ENSP00000288135:p.Asn486Ile					KIT_uc010igs.2_Missense_Mutation_p.N486I|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	p.N486I	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	9	1544	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		486			Extracellular (Potential).|Ig-like C2-type 5.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1457A>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453583	0.63290	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.03524	3.9;3.9	6.02	6.02	0.97574	Immunoglobulin-like fold (1);	0.084638	0.49916	D	0.000122	T	0.13586	0.0329	M	0.81802	2.56	0.44899	D	0.997912	B;P	0.45531	0.234;0.86	B;P	0.53266	0.118;0.722	T	0.00157	-1.1977	10	0.49607	T	0.09	.	11.9507	0.52954	0.8451:0.1549:0.0:0.0	.	486;486	P10721-2;P10721	.;KIT_HUMAN	I	486	ENSP00000288135:N486I;ENSP00000390987:N486I	ENSP00000288135:N486I	N	+	2	0	KIT	55286890	0.997000	0.39634	1.000000	0.80357	0.816000	0.46133	3.710000	0.54860	2.311000	0.77944	0.533000	0.62120	AAT		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			24	50	0	0	0	0	24	50				
KDR	3791	broad.mit.edu	37	4	55987310	55987310	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:55987310C>T	ENST00000263923.4	-	2	410	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	39					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D39Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTAAGTATGTCTTTTTGTATG	0.333			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		large_intestine(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(115-117)GAC>AAC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						134.0	138.0	137.0					4																	55987310		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987310C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.115G>A	4.37:g.55987310C>T	ENSP00000263923:p.Asp39Asn	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.D39N|KDR_uc011bzx.1_Missense_Mutation_p.D39N	p.D39N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	417	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		39			Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.115G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382597	0.42207	.	.	ENSG00000128052	ENST00000263923	T	0.32753	1.44	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.408165	0.28952	N	0.013618	T	0.32164	0.0820	M	0.70275	2.135	0.27919	N	0.938311	B;B	0.20550	0.046;0.001	B;B	0.19946	0.027;0.002	T	0.16482	-1.0401	10	0.35671	T	0.21	.	9.3387	0.38067	0.1445:0.7809:0.0:0.0746	.	39;39	P35968-2;P35968	.;VGFR2_HUMAN	N	39	ENSP00000263923:D39N	ENSP00000263923:D39N	D	-	1	0	KDR	55682067	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.327000	0.33746	2.759000	0.94783	0.650000	0.86243	GAC		0.333	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			16	62	0	0	0	0	16	62				
KIAA1211	57482	broad.mit.edu	37	4	57190344	57190344	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:57190344A>G	ENST00000504228.1	+	8	3558	c.3453A>G	c.(3451-3453)ccA>ccG	p.P1151P	KIAA1211_ENST00000264229.6_Silent_p.P1151P|KIAA1211_ENST00000541073.1_Silent_p.P1144P			Q6ZU35	K1211_HUMAN	KIAA1211	1151										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGCTCTGCCAGAAGAGAAGA	0.572																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(3451-3453)CCA>CCG		hypothetical protein LOC57482							57.0	63.0	61.0					4																	57190344		2120	4251	6371	SO:0001819	synonymous_variant	57482							g.chr4:57190344A>G	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3453A>G	4.37:g.57190344A>G						KIAA1211_uc010iha.2_Silent_p.P1144P	p.P1151P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			10	3844	+	Glioma(25;0.08)|all_neural(26;0.101)		1151					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3453A>G	CCDS43230.1																																																																																				0.572	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		16	37	0	0	0	0	16	37				
TECRL	253017	broad.mit.edu	37	4	65180375	65180375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:65180375G>A	ENST00000381210.3	-	5	652	c.542C>T	c.(541-543)cCa>cTa	p.P181L	TECRL_ENST00000507440.1_Missense_Mutation_p.P181L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438																																						uc003hcv.2		NA																	0					0						c.(541-543)CCA>CTA		steroid 5 alpha-reductase 2-like 2							93.0	86.0	89.0					4																	65180375		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65180375G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.542C>T	4.37:g.65180375G>A	ENSP00000370607:p.Pro181Leu					TECRL_uc003hcw.2_Missense_Mutation_p.P181L	p.P181L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			5	651	-			181						Missense_Mutation	SNP	ENST00000381210.3	37	c.542C>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424067	0.25639	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.39997	1.05;1.05	5.7	4.86	0.63082	.	0.254563	0.39210	N	0.001435	T	0.31358	0.0794	L	0.39566	1.225	0.49299	D	0.999778	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.003	T	0.08889	-1.0700	10	0.09843	T	0.71	-0.5415	11.737	0.51771	0.0823:0.0:0.9177:0.0	.	181;181	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	181	ENSP00000426043:P181L;ENSP00000370607:P181L	ENSP00000370607:P181L	P	-	2	0	TECRL	64862970	1.000000	0.71417	0.953000	0.39169	0.498000	0.33706	3.129000	0.50500	1.411000	0.46957	0.591000	0.81541	CCA		0.438	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		19	42	0	0	0	0	19	42				
TMPRSS11F	389208	broad.mit.edu	37	4	68919654	68919654	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:68919654A>G	ENST00000356291.2	-	10	1349	c.1290T>C	c.(1288-1290)gaT>gaC	p.D430D	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	430	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGGCAATCCAATCTCGATACT	0.408																																						uc003hdt.1		NA																	0				ovary(1)	1						c.(1288-1290)GAT>GAC		transmembrane protease, serine 11F							203.0	174.0	184.0					4																	68919654		2203	4300	6503	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68919654A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1290T>C	4.37:g.68919654A>G						LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.D430D	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			10	1339	-			430			Peptidase S1.|Extracellular (Potential).		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.1290T>C	CCDS3520.1																																																																																				0.408	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		33	60	0	0	0	0	33	60				
UGT2B10	7365	broad.mit.edu	37	4	69693223	69693223	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69693223A>G	ENST00000265403.7	+	5	1291	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	UGT2B10_ENST00000458688.2_Missense_Mutation_p.T338A	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	422					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGTCGAGTACAGACCTGCT	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	0				skin(3)|ovary(2)	5						c.(1264-1266)ACA>GCA		UDP glucuronosyltransferase 2B10 isoform 1							200.0	215.0	209.0					4																	69693223		1511	2707	4218	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693223A>G	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1264A>G	4.37:g.69693223A>G	ENSP00000265403:p.Thr422Ala					UGT2B10_uc011cam.1_Missense_Mutation_p.T338A	p.T422A	NM_001075	NP_001066	P36537	UDB10_HUMAN			5	1289	+			422					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1264A>G		.	.	.	.	.	.	.	.	.	.	a	0.063	-1.218663	0.01542	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.60797	0.16;3.38	2.25	-2.75	0.05914	.	0.785565	0.10856	U	0.626622	T	0.27866	0.0686	N	0.11789	0.175	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.14559	-1.0468	10	0.20519	T	0.43	.	0.5583	0.00674	0.2579:0.2081:0.3289:0.2052	.	338;422	B4DPP1;P36537	.;UDB10_HUMAN	A	422;338	ENSP00000265403:T422A;ENSP00000413420:T338A	ENSP00000265403:T422A	T	+	1	0	UGT2B10	69727812	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.008000	0.13197	-0.463000	0.06973	0.155000	0.16302	ACA		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		53	91	0	0	0	0	53	91				
UGT2B7	7364	broad.mit.edu	37	4	69978304	69978304	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:69978304C>A	ENST00000305231.7	+	6	1486	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	480					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGTTGCAGCCCACGACCTCA	0.483																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1438-1440)GCC>GCA		UDP glucuronosyltransferase 2B7 precursor							170.0	161.0	164.0					4																	69978304		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978304C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1440C>A	4.37:g.69978304C>A						UGT2B7_uc010ihq.2_3'UTR	p.A480A	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1486	+			480					B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	37	c.1440C>A	CCDS3526.1																																																																																				0.483	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		52	118	1	0	4.26e-23	6e-23	52	118				
GC	2638	broad.mit.edu	37	4	72622457	72622457	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72622457C>A	ENST00000273951.8	-	8	1349	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000513476.1_Missense_Mutation_p.D336Y|GC_ENST00000504199.1_Missense_Mutation_p.D355Y|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	336	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTTCCTGGATCACACACATCT	0.453																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1006-1008)GAT>TAT		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						103.0	95.0	98.0					4																	72622457		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72622457C>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1006G>T	4.37:g.72622457C>A	ENSP00000273951:p.Asp336Tyr					GC_uc003hgd.2_Missense_Mutation_p.D214Y|GC_uc010iie.2_Missense_Mutation_p.D336Y|GC_uc010iif.2_Missense_Mutation_p.D355Y	p.D336Y	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		8	1159	-		all_hematologic(202;0.107)	336			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1006G>T	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521151	0.44866	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.86432	-2.12;-2.12;-2.12	5.76	1.58	0.23477	.	0.780294	0.12418	N	0.470664	D	0.88662	0.6497	M	0.65975	2.015	0.09310	N	1	D;D	0.63880	0.993;0.991	P;P	0.53102	0.718;0.547	T	0.78932	-0.2009	10	0.62326	D	0.03	.	9.1888	0.37187	0.0:0.6437:0.0:0.3563	.	355;336	D6RAK8;D6RF35	.;.	Y	336;355;336	ENSP00000273951:D336Y;ENSP00000421725:D355Y;ENSP00000426683:D336Y	ENSP00000273951:D336Y	D	-	1	0	GC	72841321	0.001000	0.12720	0.046000	0.18839	0.009000	0.06853	-0.097000	0.11042	0.462000	0.27095	-0.150000	0.13652	GAT		0.453	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			8	33	1	0	5.18e-06	5.92e-06	8	33				
GC	2638	broad.mit.edu	37	4	72629169	72629169	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:72629169G>C	ENST00000273951.8	-	6	1000	c.657C>G	c.(655-657)gtC>gtG	p.V219V	GC_ENST00000513476.1_Silent_p.V219V|GC_ENST00000504199.1_Silent_p.V238V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	219	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	ATTGTGAGCAGACTCTATTTG	0.368																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(655-657)GTC>GTG		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						115.0	109.0	111.0					4																	72629169		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629169G>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.657C>G	4.37:g.72629169G>C						GC_uc003hgd.2_Silent_p.V97V|GC_uc010iie.2_Silent_p.V219V|GC_uc010iif.2_Silent_p.V238V	p.V219V	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		6	810	-		all_hematologic(202;0.107)	219			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.657C>G	CCDS3550.1																																																																																				0.368	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			16	39	0	0	0	0	16	39				
NAA11	84779	broad.mit.edu	37	4	80247017	80247017	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:80247017G>C	ENST00000286794.4	-	1	187	c.15C>G	c.(13-15)aaC>aaG	p.N5K	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	5	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTGGCTGAGCGTTGCGGATGT	0.512																																						uc003hlt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(13-15)AAC>AAG		alpha-N-acetyltransferase 1B							67.0	64.0	65.0					4																	80247017		2193	4299	6492	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80247017G>C		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.15C>G	4.37:g.80247017G>C	ENSP00000286794:p.Asn5Lys						p.N5K	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	155	-			5			Interaction with NAA15 (By similarity).|N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.15C>G	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.559171	0.00910	.	.	ENSG00000156269	ENST00000286794	T	0.41065	1.01	5.04	-3.03	0.05429	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.103173	0.64402	N	0.000006	T	0.15998	0.0385	N	0.11201	0.11	0.48395	D	0.999646	B	0.13594	0.008	B	0.15052	0.012	T	0.07693	-1.0759	9	.	.	.	-4.5092	5.4876	0.16759	0.3967:0.0:0.4508:0.1525	.	5	Q9BSU3	NAA11_HUMAN	K	5	ENSP00000286794:N5K	.	N	-	3	2	NAA11	80466041	0.765000	0.28485	0.871000	0.34182	0.013000	0.08279	0.053000	0.14184	-0.352000	0.08237	-0.251000	0.11542	AAC		0.512	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			13	24	0	0	0	0	13	24				
ETNPPL	64850	broad.mit.edu	37	4	109674060	109674060	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:109674060A>T	ENST00000296486.3	-	6	763	c.609T>A	c.(607-609)agT>agA	p.S203R	ETNPPL_ENST00000512646.1_Missense_Mutation_p.S145R|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S163R|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S197R	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	203						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CCTTCCTTCCACTGTTATGAG	0.363																																						uc003hzc.2		NA																	0				ovary(1)	1						c.(607-609)AGT>AGA		alanine-glyoxylate aminotransferase 2-like 1							193.0	184.0	187.0					4																	109674060		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109674060A>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.609T>A	4.37:g.109674060A>T	ENSP00000296486:p.Ser203Arg					AGXT2L1_uc010imc.2_Missense_Mutation_p.S197R|AGXT2L1_uc011cfm.1_Missense_Mutation_p.S163R|AGXT2L1_uc011cfn.1_Missense_Mutation_p.S130R|AGXT2L1_uc011cfo.1_Missense_Mutation_p.S145R	p.S203R	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	6	790	-			203					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.609T>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858928	0.32884	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.46	-7.48	0.01360	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.966466	0.08608	N	0.920466	T	0.14056	0.0340	N	0.05414	-0.055	0.21527	N	0.999658	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.002	T	0.20140	-1.0284	9	.	.	.	0.7718	1.1284	0.01740	0.2548:0.2165:0.3181:0.2106	.	145;197;203	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	R	203;197;145;163	ENSP00000296486:S203R;ENSP00000392269:S197R;ENSP00000427065:S145R;ENSP00000423240:S163R	.	S	-	3	2	AGXT2L1	109893509	0.000000	0.05858	0.002000	0.10522	0.607000	0.37147	-1.112000	0.03299	-1.264000	0.02452	0.533000	0.62120	AGT		0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		33	86	0	0	0	0	33	86				
ENPEP	2028	broad.mit.edu	37	4	111452358	111452358	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:111452358A>G	ENST00000265162.5	+	11	2074	c.1732A>G	c.(1732-1734)Aca>Gca	p.T578A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	578					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)		ttttaGTTATACATGGAATAT	0.204																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(1732-1734)ACA>GCA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						19.0	20.0	20.0					4																	111452358		2086	4180	6266	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111452358A>G	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.1732A>G	4.37:g.111452358A>G	ENSP00000265162:p.Thr578Ala						p.T578A	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	11	2074	+		Hepatocellular(203;0.217)	578			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1732A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452251	0.26074	.	.	ENSG00000138792	ENST00000265162	T	0.01379	4.96	5.32	5.32	0.75619	.	0.271361	0.42548	D	0.000692	T	0.01870	0.0059	M	0.69463	2.115	0.26697	N	0.971248	P	0.35174	0.488	B	0.27380	0.079	T	0.41124	-0.9526	10	0.09338	T	0.73	.	11.9399	0.52894	1.0:0.0:0.0:0.0	.	578	Q07075	AMPE_HUMAN	A	578	ENSP00000265162:T578A	ENSP00000265162:T578A	T	+	1	0	ENPEP	111671807	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.013000	0.57138	2.131000	0.65755	0.460000	0.39030	ACA		0.204	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	22	0	0	0	0	15	22				
ANK2	287	broad.mit.edu	37	4	114214656	114214656	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:114214656C>A	ENST00000357077.4	+	22	2490	c.2437C>A	c.(2437-2439)Ctg>Atg	p.L813M	ANK2_ENST00000264366.6_Missense_Mutation_p.L813M|ANK2_ENST00000506722.1_Missense_Mutation_p.L792M|ANK2_ENST00000509550.1_Missense_Mutation_p.L22M|ANK2_ENST00000394537.3_Missense_Mutation_p.L813M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	813					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)		GGTCGACACCCTGAAGGTTGT	0.478																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2437-2439)CTG>ATG		ankyrin 2 isoform 1							146.0	132.0	137.0					4																	114214656		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.chr4:114214656C>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.2437C>A	4.37:g.114214656C>A	ENSP00000349588:p.Leu813Met					ANK2_uc003ibd.3_Missense_Mutation_p.L792M|ANK2_uc003ibf.3_Missense_Mutation_p.L813M|ANK2_uc011cgc.1_Missense_Mutation_p.L22M|ANK2_uc003ibc.2_Missense_Mutation_p.L789M|ANK2_uc011cgb.1_Missense_Mutation_p.L828M	p.L813M	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2537	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	813			ANK 24.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2437C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074620	0.76415	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;D	0.91945	1.32;1.32;1.32;1.32;-1.32;1.32;1.32;-2.94	5.29	5.29	0.74685	Ankyrin repeat-containing domain (3);	0.000000	0.40640	N	0.001056	D	0.96018	0.8703	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;1.0;0.999;0.944	D;D;D;D;D;D	0.91635	0.997;0.998;0.999;0.999;0.999;0.987	D	0.96014	0.9004	10	0.72032	D	0.01	.	9.6309	0.39778	0.0:0.8451:0.0:0.1549	.	22;813;813;813;792;792	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	M	792;759;792;828;813;813;813;792;22	ENSP00000423799:L792M;ENSP00000421011:L759M;ENSP00000421067:L792M;ENSP00000424722:L828M;ENSP00000378044:L813M;ENSP00000349588:L813M;ENSP00000264366:L813M;ENSP00000426944:L22M	ENSP00000264366:L813M	L	+	1	2	ANK2	114434105	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.333000	0.52090	2.455000	0.83008	0.655000	0.94253	CTG		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		17	26	1	0	5.39e-06	6.14e-06	17	26				
JADE1	79960	broad.mit.edu	37	4	129770159	129770159	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:129770159C>T	ENST00000226319.6	+	5	601	c.321C>T	c.(319-321)ctC>ctT	p.L107L	PHF17_ENST00000413543.2_Silent_p.L107L|PHF17_ENST00000452328.2_Intron|PHF17_ENST00000511647.1_Silent_p.L107L|PHF17_ENST00000512960.1_Silent_p.L107L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGAAATCCCTCATGTTCATCA	0.517																																						uc003igk.2		NA																	0					0						c.(319-321)CTC>CTT		PHD finger protein 17 long isoform							176.0	157.0	164.0					4																	129770159		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770159C>T																												ENST00000226319.6:c.321C>T	4.37:g.129770159C>T						PHF17_uc003igj.2_Silent_p.L107L|PHF17_uc003igl.2_Intron|PHF17_uc011cgy.1_Silent_p.L107L|PHF17_uc003igm.2_Silent_p.L107L	p.L107L	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			5	601	+			107						Silent	SNP	ENST00000226319.6	37	c.321C>T	CCDS34062.1																																																																																				0.517	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			28	64	0	0	0	0	28	64				
PCDH18	54510	broad.mit.edu	37	4	138452706	138452706	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:138452706A>T	ENST00000344876.4	-	1	923	c.537T>A	c.(535-537)aaT>aaA	p.N179K	PCDH18_ENST00000412923.2_Missense_Mutation_p.N179K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)					TAAAAAAATCATTGGCAGAGA	0.483																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(535-537)AAT>AAA		protocadherin 18 precursor							60.0	59.0	60.0					4																	138452706		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452706A>T	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.537T>A	4.37:g.138452706A>T	ENSP00000355082:p.Asn179Lys					PCDH18_uc003ihf.3_Missense_Mutation_p.N172K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	p.N179K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	924	-	all_hematologic(180;0.24)		179			Extracellular (Potential).|Cadherin 2.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.537T>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072697	0.36566	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.50813	0.73;0.73	5.89	0.536	0.17138	Cadherin (4);Cadherin-like (1);	0.000000	0.46145	D	0.000304	T	0.65544	0.2701	M	0.87827	2.91	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.61201	0.885;0.739	T	0.69476	-0.5135	10	0.87932	D	0	.	10.9316	0.47222	0.5396:0.0:0.4604:0.0	.	179;179	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	K	179	ENSP00000355082:N179K;ENSP00000390688:N179K	ENSP00000355082:N179K	N	-	3	2	PCDH18	138672156	1.000000	0.71417	0.930000	0.37139	0.304000	0.27724	1.063000	0.30567	0.078000	0.16900	0.455000	0.32223	AAT		0.483	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	40	0	0	0	0	17	40				
RNF150	57484	broad.mit.edu	37	4	142053645	142053645	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:142053645G>T	ENST00000515673.2	-	1	351	c.318C>A	c.(316-318)acC>acA	p.T106T	RNF150_ENST00000507500.1_Silent_p.T106T|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000306799.3_Silent_p.T106T			Q9ULK6	RN150_HUMAN	ring finger protein 150	106	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CGGCGAACTTGGTGTTGGGGT	0.672																																						uc003iio.1		NA																	0				ovary(1)	1						c.(316-318)ACC>ACA		ring finger protein 150 precursor							29.0	28.0	28.0					4																	142053645		2202	4300	6502	SO:0001819	synonymous_variant	57484					integral to membrane	zinc ion binding	g.chr4:142053645G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.318C>A	4.37:g.142053645G>T						RNF150_uc010iok.1_Silent_p.T106T|RNF150_uc003iip.1_Silent_p.T106T	p.T106T	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			1	972	-	all_hematologic(180;0.162)		106			Extracellular (Potential).|PA.		Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	c.318C>A	CCDS34065.1																																																																																				0.672	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		8	10	1	0	5.18e-06	5.92e-06	8	10				
GUCY1A3	2982	broad.mit.edu	37	4	156629432	156629432	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:156629432A>C	ENST00000296518.7	+	5	571	c.362A>C	c.(361-363)cAa>cCa	p.Q121P	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q121P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q121P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	121					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTGCAGAGCAAGCAGTTGCA	0.274																																						uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(361-363)CAA>CCA		guanylate cyclase 1, soluble, alpha 3 isoform A							47.0	53.0	51.0					4																	156629432		2203	4297	6500	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156629432A>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.362A>C	4.37:g.156629432A>C	ENSP00000296518:p.Gln121Pro					GUCY1A3_uc003iou.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q121P|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q121P|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q121P	p.Q121P	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	898	+	all_hematologic(180;0.24)	Renal(120;0.0854)	121					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.362A>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515187	0.44763	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.9	4.73	0.59995	Heme-NO binding (1);	0.419844	0.22835	N	0.055052	T	0.34337	0.0894	L	0.36672	1.1	0.26193	N	0.979552	B;B;B	0.19935	0.04;0.011;0.04	B;B;B	0.28465	0.09;0.09;0.09	T	0.24368	-1.0162	10	0.33940	T	0.23	.	10.2439	0.43330	0.9248:0.0:0.0752:0.0	.	121;121;121	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	P	121	ENSP00000424361:Q121P;ENSP00000421493:Q121P;ENSP00000426968:Q121P;ENSP00000412201:Q121P;ENSP00000296518:Q121P;ENSP00000426040:Q121P	ENSP00000296518:Q121P	Q	+	2	0	GUCY1A3	156848882	0.996000	0.38824	0.813000	0.32504	0.855000	0.48748	4.144000	0.58057	1.084000	0.41184	0.451000	0.29950	CAA		0.274	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			29	56	0	0	0	0	29	56				
NPY1R	4886	broad.mit.edu	37	4	164247365	164247365	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:164247365C>G	ENST00000296533.2	-	2	873	c.342G>C	c.(340-342)aaG>aaC	p.K114N	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	114					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGGATTCAACTTACACATCG	0.443																																						uc003iqm.1		NA																	0				lung(1)|pancreas(1)	2						c.(340-342)AAG>AAC		neuropeptide Y receptor Y1							138.0	116.0	123.0					4																	164247365		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247365C>G		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.342G>C	4.37:g.164247365C>G	ENSP00000354652:p.Lys114Asn					NPY1R_uc011cjj.1_Intron	p.K114N	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	608	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	114			Extracellular (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.342G>C	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095093	0.56075	.	.	ENSG00000164128	ENST00000296533	T	0.73258	-0.73	5.84	-0.479	0.12089	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86103	0.1557	10	0.72032	D	0.01	.	12.1224	0.53900	0.0:0.4635:0.0:0.5365	.	114	P25929	NPY1R_HUMAN	N	114	ENSP00000354652:K114N	ENSP00000354652:K114N	K	-	3	2	NPY1R	164466815	0.001000	0.12720	0.926000	0.36857	0.997000	0.91878	-0.198000	0.09505	-0.025000	0.13918	0.655000	0.94253	AAG		0.443	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			19	46	0	0	0	0	19	46				
TRIM60	166655	broad.mit.edu	37	4	165962140	165962140	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:165962140C>A	ENST00000512596.1	+	3	1132	c.916C>A	c.(916-918)Cct>Act	p.P306T	TRIM60_ENST00000508504.1_Missense_Mutation_p.P306T|TRIM60_ENST00000341062.5_Missense_Mutation_p.P306T	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	306	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CACAGCACATCCTCAACTTCT	0.383																																						uc003iqy.1		NA																	0				skin(1)	1						c.(916-918)CCT>ACT		ring finger protein 129							88.0	93.0	91.0					4																	165962140		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962140C>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.916C>A	4.37:g.165962140C>A	ENSP00000421142:p.Pro306Thr					TRIM60_uc010iqx.1_Missense_Mutation_p.P306T	p.P306T	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1086	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	306			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.916C>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	C	7.366	0.625782	0.14257	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.14391	2.51;2.51;2.51	2.31	2.31	0.28768	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.565787	0.13809	U	0.361245	T	0.18676	0.0448	M	0.62154	1.92	0.19775	N	0.999955	P	0.52316	0.952	P	0.49597	0.616	T	0.07404	-1.0774	10	0.33940	T	0.23	.	6.3423	0.21330	0.2939:0.7061:0.0:0.0	.	306	Q495X7	TRI60_HUMAN	T	306	ENSP00000421142:P306T;ENSP00000426496:P306T;ENSP00000343765:P306T	ENSP00000343765:P306T	P	+	1	0	TRIM60	166181590	0.007000	0.16637	0.010000	0.14722	0.020000	0.10135	2.101000	0.41787	1.608000	0.50180	0.655000	0.94253	CCT		0.383	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		36	77	1	0	9.46e-24	1.34e-23	36	77				
DDX60L	91351	broad.mit.edu	37	4	169305796	169305796	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169305796G>T	ENST00000511577.1	-	30	4330	c.4083C>A	c.(4081-4083)tcC>tcA	p.S1361S	DDX60L_ENST00000260184.7_Silent_p.S1361S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1361							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATCTCCCTTGGAAGCCAGCA	0.547																																						uc003irq.3		NA																	0				ovary(1)	1						c.(4081-4083)TCC>TCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							65.0	65.0	65.0					4																	169305796		2203	4298	6501	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169305796G>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4083C>A	4.37:g.169305796G>T							p.S1361S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	30	4304	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1361					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.4083C>A																																																																																					0.547	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	22	1	0	9.7e-10	1.21e-09	10	22				
PALLD	23022	broad.mit.edu	37	4	169630280	169630280	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr4:169630280C>A	ENST00000505667.1	+	9	1776	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	PALLD_ENST00000261509.6_Missense_Mutation_p.Q535K|PALLD_ENST00000335742.7_Missense_Mutation_p.Q153K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q153K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	535	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGCCCAGCTGGTTGT	0.498									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	0				ovary(1)	1						c.(1603-1605)CAG>AAG		palladin isoform 2							98.0	90.0	93.0					4																	169630280		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169630280C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1603C>A	4.37:g.169630280C>A	ENSP00000425556:p.Gln535Lys					PALLD_uc003iru.2_Missense_Mutation_p.Q535K|PALLD_uc003irv.2_Missense_Mutation_p.Q153K	p.Q535K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	9	1814	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	535			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1603C>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833229	0.32421	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.23	4.34	0.51931	.	0.297270	0.18204	U	0.148403	T	0.51601	0.1684	N	0.10809	0.05	0.34242	D	0.677751	B;P;B	0.46784	0.21;0.884;0.127	B;P;B	0.51657	0.212;0.676;0.212	T	0.57780	-0.7752	10	0.26408	T	0.33	.	12.1922	0.54278	0.1315:0.741:0.1275:0.0	.	535;153;535	B7ZMM5;B3KTG2;B2RTX2	.;.;.	K	535;153;535;153	ENSP00000261509:Q535K;ENSP00000336735:Q153K;ENSP00000425556:Q535K;ENSP00000426947:Q153K	ENSP00000261509:Q535K	Q	+	1	0	PALLD	169866855	0.994000	0.37717	0.999000	0.59377	0.264000	0.26372	3.149000	0.50655	2.602000	0.87976	0.561000	0.74099	CAG		0.498	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		23	45	1	0	9.58e-11	1.22e-10	23	45				
IRX1	79192	broad.mit.edu	37	5	3599662	3599663	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:3599662_3599663GG>CT	ENST00000302006.3	+	2	652_653	c.600_601GG>CT	c.(598-603)caGGaa>caCTaa	p.200_201QE>H*	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAAGGACCAGGAAGATGGAGC	0.624																																						uc003jde.2		NA																	0				ovary(1)|pancreas(1)	2						c.(598-603)CAGGAA>CACTAA		iroquois homeobox protein 1																																				SO:0001587	stop_gained	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599662_3599663GG>CT	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	Exception_encountered	5.37:g.3599662_3599663delinsCT	ENSP00000305244:p.Q200_E201delinsH*						p.200_201QE>H*	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	652_653	+			200_201					Q7Z2F8|Q8N312	Nonsense_Mutation	DNP	ENST00000302006.3	37	c.600_601GG>CT	CCDS34132.1																																																																																				0.624	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		35	56	0	0	0	0	35	56				
SEMA5A	9037	broad.mit.edu	37	5	9154600	9154600	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:9154600C>A	ENST00000382496.5	-	12	2146	c.1481G>T	c.(1480-1482)aGc>aTc	p.S494I		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	494				S -> R (in Ref. 2; AAC14668). {ECO:0000305}.	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						GATGCCCTACCTGCGTGTGCG	0.612																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1480-1482)AGC>ATC		semaphorin 5A precursor							47.0	42.0	44.0					5																	9154600		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154600C>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.1481+1G>T	5.37:g.9154600C>A							p.S494I	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			12	2193	-			494	S -> R (in Ref. 2; AAC14668).		Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1481G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105356	0.56291	.	.	ENSG00000112902	ENST00000382496	T	0.22134	1.97	5.47	5.47	0.80525	.	0.213447	0.53938	N	0.000054	T	0.20820	0.0501	L	0.41356	1.27	0.58432	D	0.999996	B	0.18310	0.027	B	0.25759	0.063	T	0.03773	-1.1005	9	.	.	.	.	16.8081	0.85711	0.0:1.0:0.0:0.0	.	494	Q13591	SEM5A_HUMAN	I	494	ENSP00000371936:S494I	.	S	-	2	0	SEMA5A	9207600	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	6.599000	0.74127	2.584000	0.87258	0.591000	0.81541	AGC		0.612	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Missense_Mutation	38	39	1	0	3.28e-08	3.96e-08	38	39				
ADAMTS12	81792	broad.mit.edu	37	5	33535075	33535075	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:33535075C>A	ENST00000504830.1	-	23	4804	c.4469G>T	c.(4468-4470)gGc>gTc	p.G1490V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1405V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1490	TSP type-1 8. {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						CTTCTGAAAGCCACCTCCACA	0.493										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4468-4470)GGC>GTC		ADAM metallopeptidase with thrombospondin type 1							89.0	84.0	86.0					5																	33535075		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535075C>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.4469G>T	5.37:g.33535075C>A	ENSP00000422554:p.Gly1490Val	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1405V	p.G1490V	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4632	-			1490			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4469G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959281	0.74016	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.83755	-1.76;-1.76	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95258	0.8462	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96926	0.9677	10	0.87932	D	0	.	14.1242	0.65210	0.0:1.0:0.0:0.0	.	1405;1490	P58397-3;P58397	.;ATS12_HUMAN	V	1490;1405	ENSP00000422554:G1490V;ENSP00000344847:G1405V	ENSP00000344847:G1405V	G	-	2	0	ADAMTS12	33570832	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	4.089000	0.57685	2.470000	0.83445	0.563000	0.77884	GGC		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		32	44	1	0	1.56e-22	2.2e-22	32	44				
WDR70	55100	broad.mit.edu	37	5	37727134	37727134	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:37727134C>T	ENST00000265107.4	+	17	2020	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	622							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGGTTTCTCCAGCATATTC	0.383																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1864-1866)CCA>TCA		WD repeat domain 70							68.0	66.0	66.0					5																	37727134		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37727134C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1864C>T	5.37:g.37727134C>T	ENSP00000265107:p.Pro622Ser						p.P622S	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	1922	+	all_lung(31;0.000285)		622					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1864C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707862	0.89018	.	.	ENSG00000082068	ENST00000265107	T	0.67698	-0.28	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.81293	-0.0998	10	0.56958	D	0.05	-52.2925	19.7297	0.96177	0.0:1.0:0.0:0.0	.	622	Q9NW82	WDR70_HUMAN	S	622	ENSP00000265107:P622S	ENSP00000265107:P622S	P	+	1	0	WDR70	37762891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.246000	0.78247	2.658000	0.90341	0.650000	0.86243	CCA		0.383	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		68	88	0	0	0	0	68	88				
C9	735	broad.mit.edu	37	5	39306836	39306836	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:39306836G>C	ENST00000263408.4	-	9	1394	c.1299C>G	c.(1297-1299)acC>acG	p.T433T		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	433	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CATATTTTCTGGTTCCACCTC	0.403																																						uc003jlv.3		NA																	0					0						c.(1297-1299)ACC>ACG		complement component 9 precursor							121.0	103.0	109.0					5																	39306836		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306836G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1299C>G	5.37:g.39306836G>C							p.T433T	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1388	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	433			MACPF.			Silent	SNP	ENST00000263408.4	37	c.1299C>G	CCDS3929.1																																																																																				0.403	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			32	73	0	0	0	0	32	73				
CARD6	84674	broad.mit.edu	37	5	40843302	40843302	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:40843302G>C	ENST00000254691.5	+	2	531	c.332G>C	c.(331-333)aGc>aCc	p.S111T	CARD6_ENST00000381677.3_Missense_Mutation_p.S111T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	111					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGGGCAAGCAGTAATTCA	0.383																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(331-333)AGC>ACC		caspase recruitment domain family, member 6							57.0	63.0	61.0					5																	40843302		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843302G>C	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.332G>C	5.37:g.40843302G>C	ENSP00000254691:p.Ser111Thr						p.S111T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	407	+			111					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.332G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059896	0.36373	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32515	2.67;1.45	5.01	-4.69	0.03299	.	1.076880	0.07090	N	0.838572	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	P	0.38922	0.651	B	0.27262	0.078	T	0.18023	-1.0350	10	0.33141	T	0.24	2.9185	7.9664	0.30102	0.6288:0.1283:0.2429:0.0	.	111	Q9BX69	CARD6_HUMAN	T	111	ENSP00000254691:S111T;ENSP00000371093:S111T	ENSP00000254691:S111T	S	+	2	0	CARD6	40879059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.881000	0.03992	-0.345000	0.07892	AGC		0.383	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			50	83	0	0	0	0	50	83				
C6	729	broad.mit.edu	37	5	41160245	41160245	+	Splice_Site	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:41160245G>T	ENST00000263413.3	-	11	1947	c.1683C>A	c.(1681-1683)tcC>tcA	p.S561S	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Splice_Site_p.S561S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	561					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)				GATACTTACTGGATTTATAAT	0.408																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1681-1683)TCC>TCA		complement component 6 precursor							78.0	78.0	78.0					5																	41160245		2203	4300	6503	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160245G>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.1684+1C>A	5.37:g.41160245G>T						C6_uc003jml.1_Silent_p.S561S	p.S561S	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1893	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	561						Silent	SNP	ENST00000263413.3	37	c.1683C>A	CCDS3936.1																																																																																				0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Silent	50	94	1	0	3.68e-26	5.27e-26	50	94				
HMGCS1	3157	broad.mit.edu	37	5	43298817	43298817	+	Missense_Mutation	SNP	T	T	C	rs372815381		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:43298817T>C	ENST00000325110.6	-	3	457	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.Y84C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	84					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AATGCAATCATAGGAAAGGTT	0.428																																						uc003jnr.3		NA																	0					0						c.(250-252)TAT>TGT		hydroxymethylglutaryl-CoA synthase 1		T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	128.0	126.0	127.0		251,251	6.0	1.0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HMGCS1	NM_001098272.1,NM_002130.6	194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	84/521,84/521	43298817	1,13005	2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298817T>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.251A>G	5.37:g.43298817T>C	ENSP00000322706:p.Tyr84Cys					HMGCS1_uc003jnq.3_Missense_Mutation_p.Y84C	p.Y84C	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			3	458	-			84					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.251A>G	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010701	0.75046	0.0	1.16E-4	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;D	0.89343	-2.5;-2.5;-2.5	6.02	6.02	0.97574	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94547	0.7750	10	0.40728	T	0.16	-17.0288	16.542	0.84395	0.0:0.0:0.0:1.0	.	84	Q01581	HMCS1_HUMAN	C	84	ENSP00000322706:Y84C;ENSP00000399402:Y84C;ENSP00000427339:Y84C	ENSP00000322706:Y84C	Y	-	2	0	HMGCS1	43334574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.778000	0.62368	2.304000	0.77564	0.528000	0.53228	TAT		0.428	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			70	116	0	0	0	0	70	116				
HCN1	348980	broad.mit.edu	37	5	45262356	45262356	+	Silent	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45262356G>C	ENST00000303230.4	-	8	2397	c.2340C>G	c.(2338-2340)acC>acG	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2338-2340)ACC>ACG		hyperpolarization activated cyclic							73.0	70.0	71.0					5																	45262356		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262356G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2340C>G	5.37:g.45262356G>C							p.T780T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2365	-			780			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2340C>G	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		22	61	0	0	0	0	22	61				
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:45396681G>T	ENST00000303230.4	-	4	1200	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1141-1143)GTC>GTA		hyperpolarization activated cyclic							90.0	76.0	81.0					5																	45396681		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396681G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1143C>A	5.37:g.45396681G>T							p.V381V	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1168	-			381			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000303230.4	37	c.1143C>A	CCDS3952.1																																																																																				0.507	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	75	1	0	5.04e-11	6.44e-11	18	75				
BDP1	55814	broad.mit.edu	37	5	70798483	70798483	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:70798483A>G	ENST00000358731.4	+	15	2369	c.2106A>G	c.(2104-2106)gtA>gtG	p.V702V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	702					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGACCTGTACAAGTGAGGG	0.383																																						uc003kbp.1		NA																	0				skin(2)	2						c.(2104-2106)GTA>GTG		transcription factor-like nuclear regulator							82.0	77.0	78.0					5																	70798483		1834	4087	5921	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70798483A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2106A>G	5.37:g.70798483A>G						BDP1_uc003kbn.1_Silent_p.V702V|BDP1_uc003kbo.2_Silent_p.V702V	p.V702V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2369	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	702					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.2106A>G	CCDS43328.1																																																																																				0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		23	14	0	0	0	0	23	14				
MAP1B	4131	broad.mit.edu	37	5	71492996	71492996	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:71492996C>A	ENST00000296755.7	+	5	4112	c.3814C>A	c.(3814-3816)Ctg>Atg	p.L1272M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1272					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAGACCCCCCTGGGTGAACG	0.517																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(3814-3816)CTG>ATG		microtubule-associated protein 1B							66.0	67.0	66.0					5																	71492996		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492996C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3814C>A	5.37:g.71492996C>A	ENSP00000296755:p.Leu1272Met					MAP1B_uc010iyw.1_Missense_Mutation_p.L1289M|MAP1B_uc010iyx.1_Missense_Mutation_p.L1146M|MAP1B_uc010iyy.1_Missense_Mutation_p.L1146M	p.L1272M	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4055	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1272					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3814C>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	5.955	0.360161	0.11296	.	.	ENSG00000131711	ENST00000296755	T	0.03358	3.96	5.79	2.98	0.34508	.	0.000000	0.48767	D	0.000178	T	0.02342	0.0072	N	0.08118	0	0.21386	N	0.9997	P;P	0.45902	0.868;0.868	P;P	0.45506	0.483;0.483	T	0.47873	-0.9083	10	0.25751	T	0.34	-10.8616	5.8063	0.18442	0.1245:0.6103:0.0:0.2652	.	1146;1272	A2BDK6;P46821	.;MAP1B_HUMAN	M	1272	ENSP00000296755:L1272M	ENSP00000296755:L1272M	L	+	1	2	MAP1B	71528752	0.011000	0.17503	0.928000	0.36995	0.732000	0.41865	0.162000	0.16501	0.811000	0.34303	-0.140000	0.14226	CTG		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		51	23	1	0	3.86e-30	5.59e-30	51	23				
NSA2	10412	broad.mit.edu	37	5	74069717	74069717	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:74069717G>C	ENST00000296802.5	+	5	916	c.547G>C	c.(547-549)Gta>Cta	p.V183L		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	183					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GAAAGCCCATGTAACACATCC	0.403																																						uc003kdk.1		NA																	0				ovary(1)	1						c.(547-549)GTA>CTA		NSA2 ribosome biogenesis homolog							84.0	75.0	78.0					5																	74069717		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74069717G>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.547G>C	5.37:g.74069717G>C	ENSP00000296802:p.Val183Leu						p.V183L	NM_014886	NP_055701	O95478	NSA2_HUMAN			5	630	+			183						Missense_Mutation	SNP	ENST00000296802.5	37	c.547G>C	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250583	0.80135	.	.	ENSG00000164346	ENST00000296802	T	0.37752	1.18	5.4	5.4	0.78164	.	0.054555	0.64402	N	0.000001	T	0.49983	0.1589	M	0.87180	2.865	0.80722	D	1	B	0.20780	0.048	B	0.20955	0.032	T	0.55029	-0.8204	10	0.87932	D	0	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	183	O95478	NSA2_HUMAN	L	183	ENSP00000296802:V183L	ENSP00000296802:V183L	V	+	1	0	NSA2	74105473	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.345000	0.97053	2.686000	0.91538	0.555000	0.69702	GTA		0.403	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		31	20	0	0	0	0	31	20				
MEF2C	4208	broad.mit.edu	37	5	88119602	88119603	+	Start_Codon_SNP	DNP	CC	CC	AA			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:88119602_88119603CC>AA	ENST00000437473.2	-	2	420_421	c.3_4GG>TT	c.(1-6)atGGgg>atTTgg	p.1_2MG>IW	MEF2C_ENST00000504921.2_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000539796.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000508569.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000510942.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000506554.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000514015.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000514028.1_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000340208.5_Start_Codon_SNP_p.1_2MG>IW|MEF2C_ENST00000424173.2_Start_Codon_SNP_p.1_2MG>IW	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	1					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTTCTCCCCATAGTCCCCG	0.342										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(1-6)ATGGGG>ATTTGG		myocyte enhancer factor 2C isoform 1																																				SO:0001582	initiator_codon_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119602_88119603CC>AA	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.3_4delinsAA	5.37:g.88119602_88119603delinsAA	ENSP00000396219:p.M1_G2delinsIW	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjk.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjm.2_Missense_Mutation_p.1_2MG>IW|MEF2C_uc003kjl.2_Missense_Mutation_p.1_2MG>IW	p.1_2MG>IW	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	676_677	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	1_2					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	DNP	ENST00000437473.2	37	c.3_4GG>TT	CCDS47245.1																																																																																				0.342	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	Missense_Mutation	136	137	0	0	0	0	136	137				
GPR98	84059	broad.mit.edu	37	5	89986666	89986666	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:89986666G>A	ENST00000405460.2	+	31	6855	c.6759G>A	c.(6757-6759)aaG>aaA	p.K2253K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2253	Calx-beta 16. {ECO:0000255}.				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)		ACTCAGTGAAGGTAAACCTGC	0.428																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6757-6759)AAG>AAA		G protein-coupled receptor 98 precursor							54.0	52.0	53.0					5																	89986666		1881	4102	5983	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.chr5:89986666G>A	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.6759G>A	5.37:g.89986666G>A						GPR98_uc003kjt.2_5'UTR	p.K2253K	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)	31	6855	+		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)	2253			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6759G>A	CCDS47246.1																																																																																				0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		17	10	0	0	0	0	17	10				
POU5F2	134187	broad.mit.edu	37	5	93076445	93076445	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:93076445C>T	ENST00000510627.4	-	1	898	c.825G>A	c.(823-825)cgG>cgA	p.R275R	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCACAATCTCCCGTGGGGAAG	0.577																																						uc003kkl.1		NA																	0					0						c.(823-825)CGG>CGA		POU domain class 5, transcription factor 2							37.0	41.0	39.0					5																	93076445		1971	4137	6108	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076445C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.825G>A	5.37:g.93076445C>T						FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	p.R275R	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	865	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	275					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.825G>A	CCDS59489.1																																																																																				0.577	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		6	16	0	0	0	0	6	16				
LMNB1	4001	broad.mit.edu	37	5	126154638	126154638	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:126154638C>G	ENST00000261366.5	+	6	1325	c.964C>G	c.(964-966)Caa>Gaa	p.Q322E	LMNB1_ENST00000395354.1_Missense_Mutation_p.Q322E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	322	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGAAAGGATTCAAGAATTAGA	0.388																																						uc003kud.1		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(964-966)CAA>GAA		lamin B1							102.0	105.0	104.0					5																	126154638		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126154638C>G	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.964C>G	5.37:g.126154638C>G	ENSP00000261366:p.Gln322Glu					LMNB1_uc003kuc.2_Missense_Mutation_p.Q322E|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.Q112E	p.Q322E	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	6	1332	+		all_cancers(142;0.103)|Prostate(80;0.081)	322			Rod.|Coil 2.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.964C>G	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670184	0.47677	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.88124	-2.34;-2.34	5.74	4.88	0.63580	Filament (1);	0.615477	0.17787	N	0.162031	T	0.81088	0.4750	L	0.28400	0.85	0.39746	D	0.97182	B	0.21753	0.06	B	0.23150	0.044	T	0.76198	-0.3047	10	0.27082	T	0.32	.	15.0508	0.71867	0.0:0.9319:0.0:0.0681	.	322	P20700	LMNB1_HUMAN	E	322	ENSP00000261366:Q322E;ENSP00000378761:Q322E	ENSP00000261366:Q322E	Q	+	1	0	LMNB1	126182537	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.274000	0.51631	1.576000	0.49790	0.563000	0.77884	CAA		0.388	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		69	41	0	0	0	0	69	41				
FBN2	2201	broad.mit.edu	37	5	127595187	127595187	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127595187C>A	ENST00000508053.1	-	71	9673	c.8699G>T	c.(8698-8700)gGg>gTg	p.G2900V	FBN2_ENST00000262464.4_Missense_Mutation_p.G2900V			P35556	FBN2_HUMAN	fibrillin 2	2900					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)		GAGAGCCTCCCCAAGCTCCCC	0.493																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8698-8700)GGG>GTG		fibrillin 2 precursor							120.0	115.0	117.0					5																	127595187		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.chr5:127595187C>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.8699G>T	5.37:g.127595187C>A	ENSP00000424571:p.Gly2900Val						p.G2900V	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)	65	9138	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2900					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8699G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312912	0.60414	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.85629	-2.01;-2.01	5.49	5.49	0.81192	.	0.099877	0.44097	D	0.000483	D	0.91754	0.7392	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	D	0.91984	0.5597	10	0.87932	D	0	.	19.5617	0.95375	0.0:1.0:0.0:0.0	.	2900	P35556	FBN2_HUMAN	V	2900	ENSP00000262464:G2900V;ENSP00000424571:G2900V	ENSP00000262464:G2900V	G	-	2	0	FBN2	127623086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.522000	0.81844	2.859000	0.98148	0.591000	0.81541	GGG		0.493	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		62	44	1	0	9.54e-28	1.37e-27	62	44				
FBN2	2201	broad.mit.edu	37	5	127702106	127702106	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:127702106A>T	ENST00000508053.1	-	23	3240	c.2266T>A	c.(2266-2268)Tgt>Agt	p.C756S	FBN2_ENST00000262464.4_Missense_Mutation_p.C756S|FBN2_ENST00000508989.1_Missense_Mutation_p.C723S|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	756	TB 3.				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)		CCACTACTACAAAGGCCGTGG	0.323																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2266-2268)TGT>AGT		fibrillin 2 precursor							58.0	56.0	57.0					5																	127702106		2203	4295	6498	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.chr5:127702106A>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2266T>A	5.37:g.127702106A>T	ENSP00000424571:p.Cys756Ser					FBN2_uc003kuv.2_Missense_Mutation_p.C723S	p.C756S	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)	17	2705	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	756			TB 3.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2266T>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068753	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99933	-8.27;-8.27;-8.27	4.73	4.73	0.59995	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.64402	D	0.000001	D	0.99937	0.9972	M	0.91140	3.18	0.58432	D	0.999997	D;P	0.89917	1.0;0.932	D;P	0.83275	0.996;0.879	D	0.95447	0.8531	10	0.87932	D	0	.	14.9228	0.70854	1.0:0.0:0.0:0.0	.	723;756	D6RJI3;P35556	.;FBN2_HUMAN	S	756;756;723	ENSP00000262464:C756S;ENSP00000424571:C756S;ENSP00000425596:C723S	ENSP00000262464:C756S	C	-	1	0	FBN2	127730005	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.430000	0.90283	2.077000	0.62373	0.477000	0.44152	TGT		0.323	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		19	16	0	0	0	0	19	16				
TGFBI	7045	broad.mit.edu	37	5	135379745	135379745	+	Splice_Site	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135379745A>G	ENST00000442011.2	+	3	394		c.e3-1		TGFBI_ENST00000504185.1_Splice_Site|TGFBI_ENST00000305126.8_Splice_Site	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTGTTACAGAGTCATCAG	0.537																																						uc003lbf.3		NA																	0				breast(3)|ovary(1)	4						c.e3-2		transforming growth factor, beta-induced, 68kDa							178.0	179.0	179.0					5																	135379745		2044	4194	6238	SO:0001630	splice_region_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135379745A>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.234-1A>G	5.37:g.135379745A>G						TGFBI_uc003lbg.3_Splice_Site|TGFBI_uc003lbh.3_Splice_Site|TGFBI_uc011cyb.1_5'Flank	p.T78_splice	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	395	+								D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Splice_Site	SNP	ENST00000442011.2	37	c.234_splice	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750372	0.69533	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8382	0.78814	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGFBI	135407644	1.000000	0.71417	0.989000	0.46669	0.673000	0.39480	9.027000	0.93706	2.143000	0.66587	0.533000	0.62120	.		0.537	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		Intron	95	51	0	0	0	0	95	51				
TRPC7	57113	broad.mit.edu	37	5	135692763	135692763	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:135692763G>A	ENST00000513104.1	-	2	595	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	TRPC7_ENST00000426057.2_Missense_Mutation_p.R105W|TRPC7_ENST00000355180.3_Missense_Mutation_p.R105W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	105					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R105W(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCCCACCCGTGCCAGGTTC	0.652																																						uc003lbn.1		NA																	2	Substitution - Missense(2)		large_intestine(2)		0						c.(310-312)CGG>TGG		transient receptor potential cation channel,							56.0	65.0	62.0					5																	135692763		2203	4300	6503	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692763G>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.313C>T	5.37:g.135692763G>A	ENSP00000426070:p.Arg105Trp					TRPC7_uc010jef.1_Missense_Mutation_p.R96W|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R96W|TRPC7_uc010jei.1_Missense_Mutation_p.R96W|TRPC7_uc010jej.1_Translation_Start_Site	p.R104W	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	313	-			105			Cytoplasmic (Potential).|ANK 2.		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.310C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.540262|3.540262	0.65085|0.65085	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.71103|.	-0.54;-0.54;-0.54|.	5.0|5.0	4.06|4.06	0.47325|0.47325	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71854|0.71854	0.3389|0.3389	M|M	0.78637|0.78637	2.42|2.42	0.33398|0.33398	D|D	0.576973|0.576973	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.993;0.982;0.999;0.998|.	T|T	0.79364|0.79364	-0.1834|-0.1834	10|5	0.87932|.	D|.	0|.	-15.3684|-15.3684	16.0147|16.0147	0.80427|0.80427	0.0:0.0:0.8568:0.1432|0.0:0.0:0.8568:0.1432	.|.	105;105;105;105|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	W|M	105|104	ENSP00000347312:R105W;ENSP00000441628:R105W;ENSP00000426070:R105W|.	ENSP00000265193:R105W|.	R|T	-|-	1|2	2|0	TRPC7|TRPC7	135720662|135720662	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	3.406000|3.406000	0.52637|0.52637	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.652	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		37	21	0	0	0	0	37	21				
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1351-1353)AAC>AAT		protocadherin alpha 4 isoform 1 precursor							78.0	79.0	79.0					5																	140188125		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188125C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1353C>T	5.37:g.140188125C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N451N|PCDHA4_uc011daa.1_Silent_p.N451N	p.N451N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1454	+			451			Cadherin 4.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1353C>T	CCDS54916.1																																																																																				0.647	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		62	28	0	0	0	0	62	28				
PCDHA6	56142	broad.mit.edu	37	5	140209711	140209711	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140209711T>A	ENST00000529310.1	+	1	2149	c.2035T>A	c.(2035-2037)Tca>Aca	p.S679T	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	679					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAAGGCGTCATCACGGGC	0.677																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2035-2037)TCA>ACA		protocadherin alpha 6 isoform 1 precursor							38.0	44.0	42.0					5																	140209711		2199	4298	6497	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209711T>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2035T>A	5.37:g.140209711T>A	ENSP00000433378:p.Ser679Thr					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_uc011dab.1_Missense_Mutation_p.S679T	p.S679T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2062	+			679			Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2035T>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235837	0.22626	.	.	ENSG00000081842	ENST00000529310	T	0.51325	0.71	3.98	3.98	0.46160	.	0.268055	0.19503	U	0.112681	T	0.54319	0.1851	M	0.92169	3.28	0.21020	N	0.999804	B;B	0.27765	0.188;0.059	B;B	0.32762	0.152;0.018	T	0.56727	-0.7931	10	0.45353	T	0.12	.	4.3124	0.10977	0.0:0.1066:0.2058:0.6876	.	679;679	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	679	ENSP00000433378:S679T	ENSP00000433378:S679T	S	+	1	0	PCDHA6	140189895	0.059000	0.20769	0.010000	0.14722	0.007000	0.05969	1.420000	0.34804	1.798000	0.52647	0.254000	0.18369	TCA		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		40	29	0	0	0	0	40	29				
PCDHA10	56139	broad.mit.edu	37	5	140236619	140236619	+	Missense_Mutation	SNP	T	T	C	rs374158544		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140236619T>C	ENST00000307360.5	+	1	986	c.986T>C	c.(985-987)aTg>aCg	p.M329T	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.M329T|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCACCTATGGTTGGTCAC	0.408																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(985-987)ATG>ACG		protocadherin alpha 10 isoform 1 precursor		T	,THR/MET,,,,,,,,,,,THR/MET,THR/MET	1,4391	2.1+/-5.4	0,1,2195	134.0	127.0	129.0		,986,,,,,,,,,,,986,986	3.1	1.0	5		129	0,8544		0,0,4272	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,81,,,,,,,,,,,81,81	0,1,6467	CC,CT,TT		0.0,0.0228,0.0077	,,,,,,,,,,,,,	,329/949,,,,,,,,,,,329/845,329/686	140236619	1,12935	2196	4272	6468	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236619T>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.986T>C	5.37:g.140236619T>C	ENSP00000304234:p.Met329Thr					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_Missense_Mutation_p.M329T|PCDHA10_uc011dad.1_Missense_Mutation_p.M329T	p.M329T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	986	+			329			Cadherin 3.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.986T>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809232	0.31961	2.28E-4	0.0	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.50813	0.73;0.73	4.29	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63908	0.2551	M	0.82823	2.61	0.09310	N	1	D;D;P	0.59767	0.98;0.986;0.935	P;P;P	0.60068	0.841;0.868;0.796	T	0.54063	-0.8349	9	0.87932	D	0	.	7.2458	0.26121	0.0:0.0797:0.1461:0.7742	.	329;329;329	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	329	ENSP00000421030:M329T;ENSP00000304234:M329T	ENSP00000304234:M329T	M	+	2	0	PCDHA10	140216803	0.695000	0.27747	0.994000	0.49952	0.992000	0.81027	3.520000	0.53465	0.758000	0.33059	0.459000	0.35465	ATG		0.408	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		34	39	0	0	0	0	34	39				
PCDHA10	56139	broad.mit.edu	37	5	140237225	140237225	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140237225A>T	ENST00000307360.5	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.Q531L|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCTACAGTTCCAGGTG	0.677																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1591-1593)CAG>CTG		protocadherin alpha 10 isoform 1 precursor							60.0	67.0	65.0					5																	140237225		2196	4265	6461	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237225A>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1592A>T	5.37:g.140237225A>T	ENSP00000304234:p.Gln531Leu					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_Missense_Mutation_p.Q531L|PCDHA10_uc011dad.1_Missense_Mutation_p.Q531L	p.Q531L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1592	+			531			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1592A>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767255	0.31320	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.60040	0.22;0.65	3.63	1.12	0.20585	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.65678	0.2714	L	0.50993	1.605	0.27475	N	0.952749	D;D;D	0.65815	0.991;0.979;0.995	D;P;D	0.70016	0.967;0.876;0.931	T	0.55642	-0.8109	9	0.87932	D	0	.	7.2512	0.26150	0.796:0.0:0.204:0.0	.	531;531;531	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	531	ENSP00000421030:Q531L;ENSP00000304234:Q531L	ENSP00000304234:Q531L	Q	+	2	0	PCDHA10	140217409	0.001000	0.12720	0.998000	0.56505	0.494000	0.33585	1.240000	0.32731	0.110000	0.17919	-0.441000	0.05720	CAG		0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		80	49	0	0	0	0	80	49				
PCDHA12	56137	broad.mit.edu	37	5	140256339	140256339	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140256339C>A	ENST00000398631.2	+	1	1282	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R428W(1)		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)			GGTGACTGCGCGGGATGGGGG	0.637																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1282-1284)CGG>AGG		protocadherin alpha 12 isoform 1 precursor							158.0	162.0	161.0					5																	140256339		2203	4300	6503	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256339C>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.1282C>A	5.37:g.140256339C>A						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_Silent_p.R428R	p.R428R	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1409	+			428			Cadherin 4.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1282C>A	CCDS47285.1																																																																																				0.637	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		124	76	1	0	1.16e-64	1.71e-64	124	76				
PCDHB7	56129	broad.mit.edu	37	5	140554035	140554035	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140554035C>T	ENST00000231137.3	+	1	1793	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	540	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCCCCCGCGCTGAGCAGC	0.697																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1618-1620)GCG>GTG		protocadherin beta 7 precursor							44.0	50.0	48.0					5																	140554035		2201	4298	6499	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554035C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1619C>T	5.37:g.140554035C>T	ENSP00000231137:p.Ala540Val						p.A540V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1793	+			540			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1619C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	18.83	3.706627	0.68615	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03181	4.02	4.3	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11965	0.0291	L	0.50993	1.605	0.38575	D	0.950041	D	0.89917	1.0	D	0.77557	0.99	T	0.02691	-1.1123	9	0.59425	D	0.04	.	11.5719	0.50839	0.0:0.9097:0.0:0.0903	.	540	Q9Y5E2	PCDB7_HUMAN	V	540;323	ENSP00000231137:A540V	ENSP00000231137:A540V	A	+	2	0	PCDHB7	140534219	0.335000	0.24748	0.997000	0.53966	0.569000	0.35902	4.612000	0.61169	2.099000	0.63709	0.449000	0.29647	GCG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		45	32	0	0	0	0	45	32				
PCDHGA7	56108	broad.mit.edu	37	5	140762824	140762824	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140762824G>T	ENST00000518325.1	+	1	358	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCCTATAGACGTGGAAAT	0.418																																						uc003lka.1		NA																	0					0						c.(358-360)GAC>TAC		protocadherin gamma subfamily A, 7 isoform 1							59.0	68.0	65.0					5																	140762824		2005	4201	6206	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762824G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.358G>T	5.37:g.140762824G>T	ENSP00000430024:p.Asp120Tyr					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_uc003ljz.1_Missense_Mutation_p.D120Y	p.D120Y	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	358	+			120			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.358G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850937	0.32699	.	.	ENSG00000253537	ENST00000518325	T	0.49720	0.77	5.01	4.14	0.48551	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38612	0.1047	L	0.31371	0.925	0.27062	N	0.963528	B;B	0.33212	0.186;0.402	B;B	0.37144	0.212;0.242	T	0.37407	-0.9707	9	0.87932	D	0	.	9.0299	0.36252	0.0785:0.1498:0.7717:0.0	.	120;120	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	Y	120	ENSP00000430024:D120Y	ENSP00000430024:D120Y	D	+	1	0	PCDHGA7	140743008	0.015000	0.18098	0.998000	0.56505	0.987000	0.75469	2.136000	0.42121	1.220000	0.43490	0.655000	0.94253	GAC		0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		60	37	1	0	7.51e-29	1.08e-28	60	37				
PPP2R2B	5521	broad.mit.edu	37	5	146017900	146017900	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:146017900C>G	ENST00000394413.3	-	6	1274	c.704G>C	c.(703-705)tGc>tCc	p.C235S	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.C241S|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.C235S|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.C293S|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.C301S|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.C235S|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.C238S|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.C224S|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.C235S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	235					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)			GAAGGTGTTGCAATGATGGGG	0.542																																						uc003loe.2		NA																	0				ovary(1)|prostate(1)	2						c.(703-705)TGC>TCC		beta isoform of regulatory subunit B55, protein							155.0	112.0	127.0					5																	146017900		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.chr5:146017900C>G	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.704G>C	5.37:g.146017900C>G	ENSP00000377935:p.Cys235Ser					PPP2R2B_uc010jgm.2_Missense_Mutation_p.C224S|PPP2R2B_uc003log.3_Missense_Mutation_p.C235S|PPP2R2B_uc003lof.3_Missense_Mutation_p.C235S|PPP2R2B_uc003loi.3_Missense_Mutation_p.C238S|PPP2R2B_uc003loh.3_Missense_Mutation_p.C235S|PPP2R2B_uc003loj.3_Missense_Mutation_p.C215S|PPP2R2B_uc003lok.3_Missense_Mutation_p.C224S|PPP2R2B_uc011dbu.1_Missense_Mutation_p.C241S|PPP2R2B_uc011dbv.1_Missense_Mutation_p.C293S	p.C235S	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1229	-			235			WD 4.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.704G>C	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794687	0.90453	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.093305	0.85682	D	0.000000	T	0.57403	0.2051	M	0.86953	2.85	0.80722	D	1	P;P;P;P;D;P	0.62365	0.775;0.888;0.888;0.888;0.991;0.888	P;P;P;P;D;P	0.66351	0.506;0.626;0.626;0.626;0.943;0.626	T	0.65763	-0.6089	10	0.87932	D	0	-17.8608	18.865	0.92289	0.0:1.0:0.0:0.0	.	293;241;224;301;238;235	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	S	235;224;301;235;235;235;224;238;241;293	ENSP00000377935:C235S;ENSP00000431320:C224S;ENSP00000377936:C301S;ENSP00000377933:C235S;ENSP00000349283:C235S;ENSP00000398779:C235S;ENSP00000377932:C224S;ENSP00000336591:C238S;ENSP00000421396:C241S;ENSP00000377931:C293S	ENSP00000336591:C238S	C	-	2	0	AC011357.1	145998093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.377000	0.79668	2.458000	0.83093	0.650000	0.86243	TGC		0.542	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		43	21	0	0	0	0	43	21				
NSD1	64324	broad.mit.edu	37	5	176637520	176637520	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:176637520C>G	ENST00000439151.2	+	5	2165	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.S438*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S604*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S438*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	707					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTAGTAACTCACATACAGAC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(2119-2121)TCA>TGA		nuclear receptor binding SET domain protein 1							58.0	60.0	60.0					5																	176637520		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637520C>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2120C>G	5.37:g.176637520C>G	ENSP00000395929:p.Ser707*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.S438*|NSD1_uc003mfs.1_Nonsense_Mutation_p.S604*|NSD1_uc011dfx.1_Nonsense_Mutation_p.S355*	p.S707*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2258	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	707					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2120C>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019346	0.54576	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.1	5.1	0.69264	.	0.266613	0.27411	N	0.019491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1717	0.31258	0.0:0.8657:0.0:0.1343	.	.	.	.	X	438;438;707;438;604	.	.	S	+	2	0	NSD1	176570126	0.996000	0.38824	1.000000	0.80357	0.347000	0.29111	2.202000	0.42743	2.805000	0.96524	0.655000	0.94253	TCA		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		43	25	0	0	0	0	43	25				
RNF182	221687	broad.mit.edu	37	6	13977639	13977639	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:13977639G>A	ENST00000488300.1	+	3	812	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	RNF182_ENST00000544682.1_Missense_Mutation_p.G97R|RNF182_ENST00000537663.1_Missense_Mutation_p.G97R|RNF182_ENST00000537388.1_Missense_Mutation_p.G97R	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	97					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGGAGGCAAAGGGAAGAAGTG	0.542																																						uc003nbe.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(289-291)GGG>AGG		ring finger protein 182							84.0	83.0	83.0					6																	13977639		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977639G>A	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.289G>A	6.37:g.13977639G>A	ENSP00000420465:p.Gly97Arg					RNF182_uc003nbf.2_Missense_Mutation_p.G97R|RNF182_uc003nbg.2_Missense_Mutation_p.G97R	p.G97R	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	707	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	97					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.289G>A	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584861	0.46110	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000537388	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	5.54	5.54	0.83059	.	0.401664	0.29015	N	0.013419	T	0.71978	0.3404	N	0.22421	0.69	0.45528	D	0.998488	B	0.29432	0.244	B	0.27076	0.076	T	0.70450	-0.4868	9	.	.	.	-28.2631	19.4882	0.95039	0.0:0.0:1.0:0.0	.	97	Q8N6D2	RN182_HUMAN	R	97	ENSP00000443228:G97R;ENSP00000420465:G97R;ENSP00000442021:G97R;ENSP00000419329:G97R;ENSP00000441271:G97R	.	G	+	1	0	RNF182	14085618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.934000	0.56553	2.618000	0.88619	0.563000	0.77884	GGG		0.542	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		58	84	0	0	0	0	58	84				
GPLD1	2822	broad.mit.edu	37	6	24473885	24473885	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:24473885T>A	ENST00000230036.1	-	6	562	c.452A>T	c.(451-453)cAc>cTc	p.H151L	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATAGGAGCCGTGAAAATCAAT	0.393																																						uc003ned.1		NA																	0				ovary(2)|kidney(1)	3						c.(451-453)CAC>CTC		glycosylphosphatidylinositol specific							47.0	47.0	47.0					6																	24473885		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24473885T>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.452A>T	6.37:g.24473885T>A	ENSP00000230036:p.His151Leu					GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.H151L|GPLD1_uc003nee.2_Missense_Mutation_p.H151L	p.H151L	NM_001503	NP_001494	P80108	PHLD_HUMAN			6	563	-			151					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.452A>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530239	0.64860	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.39997	1.05	5.04	5.04	0.67666	.	0.157646	0.44097	D	0.000499	T	0.45756	0.1358	M	0.72118	2.19	0.35539	D	0.802896	B;P	0.51933	0.002;0.949	B;P	0.54590	0.007;0.756	T	0.53774	-0.8391	10	0.51188	T	0.08	-15.2608	13.7625	0.62975	0.0:0.0:0.0:1.0	.	151;151	P80108-2;P80108	.;PHLD_HUMAN	L	151	ENSP00000230036:H151L	ENSP00000230036:H151L	H	-	2	0	GPLD1	24581864	1.000000	0.71417	0.869000	0.34112	0.727000	0.41649	5.215000	0.65241	1.876000	0.54355	0.455000	0.32223	CAC		0.393	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		22	15	0	0	0	0	22	15				
SLC17A1	6568	broad.mit.edu	37	6	25830751	25830751	+	Splice_Site	SNP	C	C	T	rs183464900		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:25830751C>T	ENST00000244527.4	-	2	150		c.e2+1		SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000468082.1_Splice_Site|SLC17A1_ENST00000476801.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAAAGTGCTACCTTTTTTGGG	0.398																																						uc003nfh.3		NA																	0				ovary(3)|pancreas(1)	4						c.e2+1		solute carrier family 17 (sodium phosphate),							186.0	175.0	179.0					6																	25830751		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25830751C>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.34+1G>A	6.37:g.25830751C>T						SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Splice_Site_p.V10_splice|SLC17A1_uc010jqc.1_Intron	p.V12_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN			2	150	-								A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	37	c.34_splice	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321846	0.41096	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8591	0.41103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A1	25938730	1.000000	0.71417	0.988000	0.46212	0.450000	0.32258	2.477000	0.45180	2.015000	0.59207	0.563000	0.77884	.		0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Intron	66	73	0	0	0	0	66	73				
HIST1H3D	8351	broad.mit.edu	37	6	26197203	26197203	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:26197203C>A	ENST00000356476.2	-	1	275	c.276G>T	c.(274-276)gcG>gcT	p.A92A	HIST1H3D_ENST00000377831.5_Silent_p.A92A|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	92					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CCTCCTGCAGCGCCATCACCG	0.587																																					GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(274-276)GCG>GCT		histone cluster 1, H3d							75.0	71.0	72.0					6																	26197203		2203	4300	6503	SO:0001819	synonymous_variant	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197203C>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.276G>T	6.37:g.26197203C>A						HIST1H2BF_uc003ngx.2_5'Flank	p.A92A	NM_003530	NP_003521	P68431	H31_HUMAN			2	673	-		all_hematologic(11;0.196)	92					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000356476.2	37	c.276G>T	CCDS4590.1																																																																																				0.587	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		31	99	1	0	2.08e-15	2.82e-15	31	99				
HIST1H1B	3009	broad.mit.edu	37	6	27835170	27835170	+	Silent	SNP	C	C	T	rs374541448		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:27835170C>T	ENST00000331442.3	-	1	189	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	46	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.L46L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTGGTGATCAGCTCTGAGA	0.602																																						uc003njx.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(136-138)CTG>CTA		histone cluster 1, H1b		C		0,4404		0,0,2202	58.0	66.0	63.0		138	-3.0	0.9	6		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIST1H1B	NM_005322.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		46/227	27835170	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835170C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.138G>A	6.37:g.27835170C>T							p.L46L	NM_005322	NP_005313	P16401	H15_HUMAN			1	190	-			46			H15.		Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.138G>A	CCDS4635.1																																																																																				0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		25	87	0	0	0	0	25	87				
OR11A1	26531	broad.mit.edu	37	6	29394860	29394860	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:29394860C>A	ENST00000377149.1	-	5	1031	c.559G>T	c.(559-561)Ggc>Tgc	p.G187C	OR11A1_ENST00000377148.1_Missense_Mutation_p.G187C|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.G187C			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAGCCAGGCCCACGAAAAGC	0.507																																						uc003nmg.2		NA																	0				ovary(1)	1						c.(559-561)GGC>TGC		olfactory receptor, family 11, subfamily A,							50.0	50.0	50.0					6																	29394860		1510	2707	4217	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394860C>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.559G>T	6.37:g.29394860C>A	ENSP00000366354:p.Gly187Cys						p.G187C	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	650	-			187			Extracellular (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.559G>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825478	0.32237	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00107	8.72;8.72;8.72	3.78	-0.535	0.11879	GPCR, rhodopsin-like superfamily (1);	2.899710	0.01495	N	0.017254	T	0.00109	0.0003	L	0.35854	1.095	0.25751	N	0.985057	P	0.52170	0.951	P	0.58520	0.84	T	0.49986	-0.8880	10	0.66056	D	0.02	8.0E-4	8.7315	0.34503	0.0:0.3576:0.0:0.6424	.	187	Q9GZK7	O11A1_HUMAN	C	187	ENSP00000366353:G187C;ENSP00000366354:G187C;ENSP00000366352:G187C	ENSP00000366352:G187C	G	-	1	0	OR11A1	29502839	0.000000	0.05858	0.304000	0.25085	0.227000	0.25037	-0.676000	0.05221	-0.402000	0.07633	0.405000	0.27470	GGC		0.507	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			21	14	1	0	2.89e-11	3.7e-11	21	14				
DNAH8	1769	broad.mit.edu	37	6	38905924	38905924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:38905924C>A	ENST00000359357.3	+	76	11341	c.11087C>A	c.(11086-11088)aCa>aAa	p.T3696K	DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660K|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913K|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3696					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.T3696I(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						TTCCTCATCACAGAGATGAGC	0.522																																						uc003ooe.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(11086-11088)ACA>AAA		dynein, axonemal, heavy polypeptide 8							125.0	103.0	110.0					6																	38905924		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38905924C>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.11087C>A	6.37:g.38905924C>A	ENSP00000352312:p.Thr3696Lys					DNAH8_uc003oog.1_Missense_Mutation_p.T145K|uc003oof.1_Intron	p.T3696K	NM_001371	NP_001362					76	11687	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11087C>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.704891	0.88924	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.53640	0.61;0.61;0.61	5.61	5.61	0.85477	.	0.226096	0.46442	D	0.000294	T	0.66197	0.2765	M	0.82517	2.595	0.47341	D	0.999394	D;D	0.67145	0.996;0.992	D;P	0.65010	0.931;0.856	T	0.65561	-0.6138	10	0.44086	T	0.13	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	3660;3696	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	K	3901;3901;3696;3660	ENSP00000333363:T3901K;ENSP00000352312:T3696K;ENSP00000402294:T3660K	ENSP00000333363:T3901K	T	+	2	0	DNAH8	39013902	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	4.923000	0.63412	2.802000	0.96397	0.655000	0.94253	ACA		0.522	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		52	25	1	0	1.21e-23	1.72e-23	52	25				
DAAM2	23500	broad.mit.edu	37	6	39864638	39864638	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:39864638A>T	ENST00000398904.2	+	20	2574	c.2392A>T	c.(2392-2394)Atg>Ttg	p.M798L	DAAM2_ENST00000538976.1_Missense_Mutation_p.M798L|DAAM2_ENST00000274867.4_Missense_Mutation_p.M798L|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	798	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCTTAGACAGATGCTAGAGGT	0.622																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(2392-2394)ATG>TTG		dishevelled associated activator of							29.0	34.0	32.0					6																	39864638		1992	4170	6162	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864638A>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2392A>T	6.37:g.39864638A>T	ENSP00000381876:p.Met798Leu					DAAM2_uc003oox.2_Missense_Mutation_p.M798L	p.M798L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			20	2548	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		798			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2392A>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	4.456	0.084440	0.08583	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.09630	2.96;2.96;2.96	4.79	3.62	0.41486	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.190148	0.47093	D	0.000248	T	0.00580	0.0019	N	0.00131	-2.04	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.10450	0.0;0.005	T	0.50039	-0.8874	10	0.02654	T	1	.	9.2949	0.37808	0.6491:0.3509:0.0:0.0	.	798;798	G5EA45;Q86T65	.;DAAM2_HUMAN	L	798	ENSP00000274867:M798L;ENSP00000381876:M798L;ENSP00000437808:M798L	ENSP00000274867:M798L	M	+	1	0	DAAM2	39972616	1.000000	0.71417	0.989000	0.46669	0.849000	0.48306	1.727000	0.38095	2.017000	0.59298	0.459000	0.35465	ATG		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			18	8	0	0	0	0	18	8				
CUL9	23113	broad.mit.edu	37	6	43170895	43170895	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:43170895A>G	ENST00000252050.4	+	18	3886	c.3802A>G	c.(3802-3804)Aac>Gac	p.N1268D	CUL9_ENST00000354495.3_Missense_Mutation_p.N1158D|CUL9_ENST00000372647.2_Missense_Mutation_p.N1268D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1268	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.			N -> S (in Ref. 3; CAH18328). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGAGAACCTGAACCGCTTCTG	0.577																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(3802-3804)AAC>GAC		p53-associated parkin-like cytoplasmic protein							98.0	90.0	93.0					6																	43170895		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43170895A>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3802A>G	6.37:g.43170895A>G	ENSP00000252050:p.Asn1268Asp					CUL9_uc003oul.2_Missense_Mutation_p.N1268D|CUL9_uc010jyk.2_Missense_Mutation_p.N420D	p.N1268D	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			18	3877	+			1268	N -> S (in Ref. 3; CAH18328).		DOC.		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.3802A>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323178	0.60634	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72051	-0.62;-0.62;-0.62	5.2	5.2	0.72013	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.379178	0.31566	N	0.007425	T	0.43188	0.1236	N	0.19112	0.55	0.30353	N	0.784553	B;B;B	0.28933	0.228;0.07;0.07	B;B;B	0.36092	0.185;0.217;0.217	T	0.48614	-0.9020	10	0.87932	D	0	-5.9686	9.2768	0.37705	0.9181:0.0:0.0819:0.0	.	1158;1268;1268	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	D	1268;1158;1268	ENSP00000252050:N1268D;ENSP00000346490:N1158D;ENSP00000361730:N1268D	ENSP00000252050:N1268D	N	+	1	0	CUL9	43278873	1.000000	0.71417	0.994000	0.49952	0.750000	0.42670	5.909000	0.69923	2.094000	0.63399	0.459000	0.35465	AAC		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		23	28	0	0	0	0	23	28				
HMGCLL1	54511	broad.mit.edu	37	6	55443753	55443753	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:55443753G>T	ENST00000398661.2	-	1	232	c.101C>A	c.(100-102)cCc>cAc	p.P34H	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P34H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P34H|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P34H|HMGCLL1_ENST00000358072.5_Missense_Mutation_p.P34H	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	34					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCTGCGCGGGGTCGAGCGC	0.647																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(100-102)CCC>CAC		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							19.0	23.0	22.0					6																	55443753		2011	4180	6191	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55443753G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.101C>A	6.37:g.55443753G>T	ENSP00000381654:p.Pro34His					HMGCLL1_uc003pco.2_Missense_Mutation_p.P34H|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P34H|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P34H|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P34H|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P34H	p.P34H	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	260	-	Lung NSC(77;0.0875)		34					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.101C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392224	0.62066	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842;ENST00000358072	D;D;D;D;D;D	0.98135	-4.63;-4.74;-4.43;-3.85;-4.66;-3.56	5.24	5.24	0.73138	.	0.652853	0.14806	N	0.297366	D	0.96100	0.8729	N	0.19112	0.55	0.31624	N	0.649945	D;D;P;D;B;P	0.76494	0.999;0.997;0.525;0.992;0.373;0.89	P;P;B;P;B;B	0.62885	0.908;0.85;0.305;0.739;0.224;0.41	D	0.94251	0.7493	10	0.37606	T	0.19	5.3328	16.6056	0.84827	0.0:0.0:1.0:0.0	.	34;34;34;34;34;34	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	H	34	ENSP00000274901:P34H;ENSP00000381654:P34H;ENSP00000359887:P34H;ENSP00000424309:P34H;ENSP00000309737:P34H;ENSP00000412924:P34H	ENSP00000274901:P34H	P	-	2	0	HMGCLL1	55551712	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.676000	0.54612	2.439000	0.82584	0.557000	0.71058	CCC		0.647	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		5	3	1	0	1.02e-07	1.23e-07	5	3				
BAI3	577	broad.mit.edu	37	6	69666697	69666697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:69666697C>A	ENST00000370598.1	+	8	2342	c.1521C>A	c.(1519-1521)tgC>tgA	p.C507*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	507	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCAGCGATGCCCTGGTGAGA	0.423																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1519-1521)TGC>TGA		brain-specific angiogenesis inhibitor 3							111.0	112.0	112.0					6																	69666697		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666697C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1521C>A	6.37:g.69666697C>A	ENSP00000359630:p.Cys507*					BAI3_uc010kak.2_Nonsense_Mutation_p.C507*	p.C507*	NM_001704	NP_001695	O60242	BAI3_HUMAN			8	1969	+		all_lung(197;0.212)	507			TSP type-1 4.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.1521C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	46	12.210018	0.99646	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.19	-0.0314	0.13910	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4657	0.38811	0.0:0.3193:0.0:0.6807	.	.	.	.	X	507	.	ENSP00000359630:C507X	C	+	3	2	BAI3	69723418	0.979000	0.34478	0.994000	0.49952	0.944000	0.59088	0.135000	0.15952	0.123000	0.18342	0.650000	0.86243	TGC		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			39	30	1	0	1.5e-21	2.1e-21	39	30				
TBX18	9096	broad.mit.edu	37	6	85446515	85446515	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:85446515G>T	ENST00000369663.5	-	8	2049	c.1712C>A	c.(1711-1713)cCt>cAt	p.P571H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	571					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)		TCCTTCCACAGGGGGCAACAT	0.522																																						uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(1711-1713)CCT>CAT		T-box 18							54.0	56.0	56.0					6																	85446515		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446515G>T	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.1712C>A	6.37:g.85446515G>T	ENSP00000358677:p.Pro571His					TBX18_uc010kbq.1_Intron	p.P571H	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1712	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	571					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1712C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922990	0.73213	.	.	ENSG00000112837	ENST00000369663	D	0.86865	-2.18	5.26	5.26	0.73747	.	0.100726	0.64402	D	0.000002	D	0.82921	0.5142	N	0.14661	0.345	0.50467	D	0.999873	D	0.69078	0.997	P	0.56042	0.79	D	0.86952	0.2086	10	0.72032	D	0.01	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	571	O95935	TBX18_HUMAN	H	571	ENSP00000358677:P571H	ENSP00000358677:P571H	P	-	2	0	TBX18	85503234	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.842000	0.86851	2.453000	0.82957	0.585000	0.79938	CCT		0.522	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		40	18	1	0	4.05e-12	5.27e-12	40	18				
GPR63	81491	broad.mit.edu	37	6	97246760	97246760	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:97246760A>G	ENST00000229955.3	-	2	1193	c.848T>C	c.(847-849)aTa>aCa	p.I283T	GPR63_ENST00000417980.1_Missense_Mutation_p.I283T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCTGAGGCATATACCTTCAGG	0.473																																						uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(847-849)ATA>ACA		G protein-coupled receptor 63							91.0	89.0	89.0					6																	97246760		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246760A>G	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.848T>C	6.37:g.97246760A>G	ENSP00000229955:p.Ile283Thr					GPR63_uc003pou.2_Missense_Mutation_p.I283T	p.I283T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1326	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	283			Cytoplasmic (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.848T>C	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682607	0.29872	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.60672	0.17;0.17;0.17	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.057013	0.64402	D	0.000003	T	0.31071	0.0785	N	0.22421	0.69	0.58432	D	0.999997	P	0.42010	0.768	B	0.40256	0.324	T	0.14727	-1.0462	10	0.28530	T	0.3	-12.4248	15.3582	0.74443	1.0:0.0:0.0:0.0	.	283	Q9BZJ6	GPR63_HUMAN	T	307;283;283;283	ENSP00000393170:I283T;ENSP00000229955:I283T;ENSP00000358273:I283T	ENSP00000229955:I283T	I	-	2	0	GPR63	97353481	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	8.910000	0.92685	2.097000	0.63578	0.528000	0.53228	ATA		0.473	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			47	24	0	0	0	0	47	24				
PRDM1	639	broad.mit.edu	37	6	106547326	106547326	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:106547326A>T	ENST00000369096.4	+	4	797	c.563A>T	c.(562-564)aAg>aTg	p.K188M	PRDM1_ENST00000369091.2_Missense_Mutation_p.K152M|RP1-134E15.3_ENST00000602426.1_RNA|PRDM1_ENST00000369089.3_Missense_Mutation_p.K54M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	188	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TACACCATTAAGCCCATCCCT	0.502			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(562-564)AAG>ATG		PR domain containing 1, with ZNF domain isoform							112.0	97.0	102.0					6																	106547326		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106547326A>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.563A>T	6.37:g.106547326A>T	ENSP00000358092:p.Lys188Met					PRDM1_uc003pre.2_Missense_Mutation_p.K54M	p.K188M	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	4	797	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	188			SET.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.563A>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.941057	0.73557	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.75	5.75	0.90469	SET domain (3);	0.208186	0.49916	D	0.000131	D	0.92554	0.7635	M	0.93638	3.44	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.94421	0.7641	10	0.87932	D	0	-30.3966	16.0549	0.80794	1.0:0.0:0.0:0.0	.	54;188	Q86WM7;O75626	.;PRDM1_HUMAN	M	152;188;152;67;54	ENSP00000358087:K152M;ENSP00000358092:K188M;ENSP00000399772:K67M;ENSP00000358085:K54M	ENSP00000358085:K54M	K	+	2	0	PRDM1	106654019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.369000	0.73109	2.193000	0.70182	0.477000	0.44152	AAG		0.502	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			27	30	0	0	0	0	27	30				
GPRC6A	222545	broad.mit.edu	37	6	117127963	117127963	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:117127963C>A	ENST00000310357.3	-	3	926	c.905G>T	c.(904-906)aGt>aTt	p.S302I	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S302I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	302					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)		CCAATTATCACTAGCAATCCA	0.363																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(904-906)AGT>ATT		G protein-coupled receptor, family C, group 6,							112.0	111.0	111.0					6																	117127963		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117127963C>A	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.905G>T	6.37:g.117127963C>A	ENSP00000309493:p.Ser302Ile					GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S302I	p.S302I	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	927	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	302			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.905G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683374	0.68157	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.84516	-1.86;-1.86	6.16	5.28	0.74379	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000007	D	0.92479	0.7612	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.93781	0.7084	10	0.62326	D	0.03	.	17.5251	0.87798	0.0:0.8762:0.1238:0.0	.	302;302	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	I	302	ENSP00000309493:S302I;ENSP00000357537:S302I	ENSP00000309493:S302I	S	-	2	0	GPRC6A	117234656	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.934000	0.56553	1.582000	0.49881	0.650000	0.86243	AGT		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			44	41	1	0	9.39e-22	1.32e-21	44	41				
ENPP3	5169	broad.mit.edu	37	6	132043384	132043384	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132043384C>A	ENST00000414305.1	+	19	1913	c.1585C>A	c.(1585-1587)Cca>Aca	p.P529T	ENPP3_ENST00000358229.5_Missense_Mutation_p.P529T|ENPP3_ENST00000357639.3_Missense_Mutation_p.P529T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	529					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACGCATTCAACCAGCACCAAA	0.408																																						uc003qcu.3		NA																	0				ovary(3)|skin(1)	4						c.(1585-1587)CCA>ACA		ectonucleotide pyrophosphatase/phosphodiesterase							135.0	121.0	125.0					6																	132043384		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132043384C>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1585C>A	6.37:g.132043384C>A	ENSP00000406261:p.Pro529Thr					ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.P529T	p.P529T	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	19	1932	+	Breast(56;0.0753)		529			Extracellular (Potential).		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1585C>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330069	0.81690	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.79554	-1.22;-1.22;-1.28	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.93236	0.7845	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94184	0.7434	10	0.87932	D	0	-14.3758	20.1581	0.98126	0.0:1.0:0.0:0.0	.	529	O14638	ENPP3_HUMAN	T	529	ENSP00000406261:P529T;ENSP00000350265:P529T;ENSP00000350964:P529T	ENSP00000350265:P529T	P	+	1	0	ENPP3	132085077	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	6.311000	0.72835	2.937000	0.99478	0.650000	0.86243	CCA		0.408	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			29	23	1	0	3.67e-24	5.22e-24	29	23				
TAAR9	134860	broad.mit.edu	37	6	132859539	132859539	+	RNA	SNP	C	C	T	rs374883560		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:132859539C>T	ENST00000434551.1	+	0	111					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)		TCCTCTACGCCGTCCTTGGTT	0.478													c|||	1	0.000199681	0.0	0.0	5008	,	,		19305	0.0		0.001	False		,,,				2504	0.0				Colon(10;433 445 15992 45047 47213)	uc011eci.1		NA																	0					0						c.(109-111)GCC>GCT		trace amine associated receptor 9		T		0,4082		0,0,2041	123.0	120.0	121.0		111	-10.5	0.0	6		121	4,8442		0,4,4219	no	coding-synonymous	TAAR9	NM_175057.3		0,4,6260	TT,TC,CC		0.0474,0.0,0.0319		37/349	132859539	4,12524	2041	4223	6264			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859539C>T	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.132859539C>T							p.A37A	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	1	113	+	Breast(56;0.112)		37			Extracellular (Potential).			Silent	SNP	ENST00000434551.1	37	c.111C>T																																																																																					0.478	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		33	17	0	0	0	0	33	17				
GRM1	2911	broad.mit.edu	37	6	146755793	146755793	+	Missense_Mutation	SNP	C	C	T	rs555468415		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:146755793C>T	ENST00000282753.1	+	8	3681	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	GRM1_ENST00000361719.2_Missense_Mutation_p.S1149L|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1149	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACGCCTCCGTCGCCTTTCCGC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15778	0.0		0.0	False		,,,				2504	0.0					uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3445-3447)TCG>TTG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						38.0	42.0	41.0					6																	146755793		2202	4300	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755793C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3446C>T	6.37:g.146755793C>T	ENSP00000282753:p.Ser1149Leu					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.S1149L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3916	+		Ovarian(120;0.0387)	1149			Ser-rich.|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3446C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447193	0.96205	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.95918	-3.85;-3.85	5.82	5.82	0.92795	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97468	1.0039	10	0.87932	D	0	.	20.1054	0.97890	0.0:1.0:0.0:0.0	.	1149	Q13255	GRM1_HUMAN	L	1149	ENSP00000354896:S1149L;ENSP00000282753:S1149L	ENSP00000282753:S1149L	S	+	2	0	GRM1	146797486	1.000000	0.71417	0.973000	0.42090	0.910000	0.53928	7.482000	0.81143	2.757000	0.94681	0.655000	0.94253	TCG		0.657	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	43	0	0	0	0	5	43				
SASH1	23328	broad.mit.edu	37	6	148867161	148867161	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:148867161G>T	ENST00000367467.3	+	19	3834	c.3359G>T	c.(3358-3360)tGt>tTt	p.C1120F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1120					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)		CATGGCCGCTGTGGGATTCCT	0.522																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(3358-3360)TGT>TTT		SAM and SH3 domain containing 1							64.0	66.0	65.0					6																	148867161		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148867161G>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.3359G>T	6.37:g.148867161G>T	ENSP00000356437:p.Cys1120Phe					SASH1_uc003qmf.1_Missense_Mutation_p.C530F	p.C1120F	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	19	3834	+		Ovarian(120;0.0169)	1120					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3359G>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218764	0.79464	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.39229	1.09	5.46	5.46	0.80206	.	0.178272	0.64402	D	0.000006	T	0.34077	0.0885	L	0.27053	0.805	0.58432	D	0.999994	D	0.59767	0.986	P	0.56700	0.804	T	0.19778	-1.0295	10	0.59425	D	0.04	-14.1782	12.6224	0.56610	0.0752:0.0:0.9248:0.0	.	1120	O94885	SASH1_HUMAN	F	1120;530	ENSP00000356437:C1120F	ENSP00000356437:C1120F	C	+	2	0	SASH1	148908854	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.320000	0.79064	2.567000	0.86603	0.655000	0.94253	TGT		0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		39	19	1	0	1.75e-18	2.41e-18	39	19				
LATS1	9113	broad.mit.edu	37	6	150005102	150005102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:150005102G>A	ENST00000543571.1	-	4	1670	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	LATS1_ENST00000392273.3_Missense_Mutation_p.P375S|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.P375S	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)		AGAGGATATGGAGGTGGTGGC	0.478																																						uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.(1123-1125)CCA>TCA		LATS homolog 1							72.0	69.0	70.0					6																	150005102		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005102G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1123C>T	6.37:g.150005102G>A	ENSP00000437550:p.Pro375Ser					LATS1_uc010kif.1_Missense_Mutation_p.P270S|LATS1_uc003qmv.1_Missense_Mutation_p.P375S|LATS1_uc003qmw.2_Missense_Mutation_p.P375S|LATS1_uc010kig.1_Missense_Mutation_p.P270S	p.P375S	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1671	-		Ovarian(120;0.0164)	375			PPxY motif 1.			Missense_Mutation	SNP	ENST00000543571.1	37	c.1123C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130857	0.56828	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.53206	0.63;0.63;3.15	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000072	T	0.49864	0.1582	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;P	0.91635	0.937;0.999;0.88	T	0.41963	-0.9479	9	.	.	.	.	19.137	0.93431	0.0:0.0:1.0:0.0	.	227;375;375	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	S	375	ENSP00000437550:P375S;ENSP00000253339:P375S;ENSP00000444678:P375S	.	P	-	1	0	LATS1	150046795	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.426000	0.90273	2.535000	0.85469	0.655000	0.94253	CCA		0.478	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		40	30	0	0	0	0	40	30				
SYNE1	23345	broad.mit.edu	37	6	152605236	152605236	+	Silent	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152605236C>G	ENST00000367255.5	-	96	18685	c.18084G>C	c.(18082-18084)ctG>ctC	p.L6028L	SYNE1_ENST00000341594.5_Silent_p.L5640L|SYNE1_ENST00000423061.1_Silent_p.L5957L|SYNE1_ENST00000356820.4_Silent_p.L552L|SYNE1_ENST00000448038.1_Silent_p.L5957L|SYNE1_ENST00000265368.4_Silent_p.L6028L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6028					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCGGATACCAGCTCCTCTG	0.542										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18082-18084)CTG>CTC		spectrin repeat containing, nuclear envelope 1							78.0	74.0	75.0					6																	152605236		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152605236C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18084G>C	6.37:g.152605236C>G		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L552L|SYNE1_uc003qos.3_Silent_p.L552L|SYNE1_uc003qot.3_Silent_p.L5957L|SYNE1_uc003qou.3_Silent_p.L6028L|SYNE1_uc010kiy.1_Silent_p.L207L	p.L6028L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18686	-		Ovarian(120;0.0955)	6028			Spectrin 20.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18084G>C	CCDS5236.2																																																																																				0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		35	25	0	0	0	0	35	25				
SYNE1	23345	broad.mit.edu	37	6	152631122	152631122	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:152631122G>A	ENST00000367255.5	-	90	17651	c.17050C>T	c.(17050-17052)Ccg>Tcg	p.P5684S	SYNE1_ENST00000341594.5_Missense_Mutation_p.P5296S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5613S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P208S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5613S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P5684S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5684					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACCTTCGGCTTCAGTGAC	0.453										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(17050-17052)CCG>TCG		spectrin repeat containing, nuclear envelope 1							41.0	40.0	40.0					6																	152631122		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152631122G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17050C>T	6.37:g.152631122G>A	ENSP00000356224:p.Pro5684Ser	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.P208S|SYNE1_uc003qos.3_Missense_Mutation_p.P208S|SYNE1_uc003qot.3_Missense_Mutation_p.P5613S|SYNE1_uc003qou.3_Missense_Mutation_p.P5684S	p.P5684S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	90	17652	-		Ovarian(120;0.0955)	5684			Spectrin 18.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17050C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962949	0.92791	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.51071	1.36;1.36;1.36;1.36;0.72;1.36	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000009	T	0.47303	0.1438	M	0.68317	2.08	0.58432	D	0.999997	P;P;D	0.53462	0.932;0.932;0.96	B;B;P	0.48189	0.366;0.366;0.57	T	0.26430	-1.0103	10	0.24483	T	0.36	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5684;5684;5613	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	S	5684;5613;5684;5613;5296;208	ENSP00000356224:P5684S;ENSP00000396024:P5613S;ENSP00000265368:P5684S;ENSP00000390975:P5613S;ENSP00000341887:P5296S;ENSP00000349276:P208S	ENSP00000265368:P5684S	P	-	1	0	SYNE1	152672815	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	CCG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	19	0	0	0	0	30	19				
VIP	7432	broad.mit.edu	37	6	153077303	153077303	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:153077303C>A	ENST00000367244.3	+	5	542	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	VIP_ENST00000367243.3_Missense_Mutation_p.R123S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	124					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACCAGTCAAACGTCACTCAGA	0.383																																						uc003qpe.2		NA																	0					0						c.(370-372)CGT>AGT		vasoactive intestinal peptide isoform 1							94.0	100.0	98.0					6																	153077303		2203	4300	6503	SO:0001583	missense	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153077303C>A		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.370C>A	6.37:g.153077303C>A	ENSP00000356213:p.Arg124Ser					VIP_uc003qpf.2_Missense_Mutation_p.R123S|VIP_uc010kjd.2_Missense_Mutation_p.R123S	p.R124S	NM_003381	NP_003372	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	5	542	+		Ovarian(120;0.0654)	124					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.370C>A	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.972400|3.972400	0.74246|0.74246	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|.	0.67865|.	-0.23;-0.29|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.049279|.	0.85682|.	D|.	0.000000|.	D|D	0.85452|0.85452	0.5700|0.5700	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|D	0.86571|0.86571	0.1847|0.1847	10|5	0.87932|.	D|.	0|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;123;124|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	S|K	124;123|73	ENSP00000356213:R124S;ENSP00000356212:R123S|.	ENSP00000356212:R123S|.	R|T	+|+	1|2	0|0	VIP|VIP	153118996|153118996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.110000|0.110000	0.19582|0.19582	5.643000|5.643000	0.67895|0.67895	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|ACG		0.383	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			67	43	1	0	1.93e-29	2.79e-29	67	43				
SLC22A2	6582	broad.mit.edu	37	6	160668217	160668217	+	Splice_Site	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr6:160668217T>G	ENST00000366953.3	-	5	1214	c.956A>C	c.(955-957)cAg>cCg	p.Q319P	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Splice_Site_p.Q298P	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	319					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTGGCTCACCTGAAGGGAGGC	0.488																																						uc003qtf.2		NA																	0				breast(1)|skin(1)	2						c.(955-957)CAG>CCG		solute carrier family 22 member 2							94.0	88.0	90.0					6																	160668217		2203	4300	6503	SO:0001630	splice_region_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160668217T>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.957+1A>C	6.37:g.160668217T>G						SLC22A2_uc003qte.1_Missense_Mutation_p.Q319P	p.Q319P	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	5	1126	-		Breast(66;0.000776)|Ovarian(120;0.0303)	319			Cytoplasmic (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.956A>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172107	0.78452	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.74315	-0.83;-0.83	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.134007	0.52532	N	0.000077	T	0.71995	0.3406	L	0.46947	1.48	0.39240	D	0.963849	P;P	0.49961	0.853;0.93	P;P	0.56216	0.794;0.649	T	0.72312	-0.4331	10	0.35671	T	0.21	.	15.3802	0.74648	0.0:0.0:0.0:1.0	.	319;319	O15244;O15244-2	S22A2_HUMAN;.	P	319;298	ENSP00000355920:Q319P;ENSP00000355919:Q298P	ENSP00000355919:Q298P	Q	-	2	0	SLC22A2	160588207	1.000000	0.71417	0.960000	0.40013	0.965000	0.64279	3.401000	0.52601	2.083000	0.62718	0.533000	0.62120	CAG		0.488	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	Missense_Mutation	50	27	0	0	0	0	50	27				
MAD1L1	8379	broad.mit.edu	37	7	1937853	1937853	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:1937853C>T	ENST00000406869.1	-	18	2538	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	MAD1L1_ENST00000402746.1_Missense_Mutation_p.D569N|MAD1L1_ENST00000265854.7_Missense_Mutation_p.D661N|MAD1L1_ENST00000399654.2_Missense_Mutation_p.D661N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	661					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATGAGGCAGTCGCCTGGGTGC	0.627																																						uc003slh.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1981-1983)GAC>AAC		MAD1-like 1 protein							87.0	106.0	99.0					7																	1937853		2177	4273	6450	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937853C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1981G>A	7.37:g.1937853C>T	ENSP00000385334:p.Asp661Asn					MAD1L1_uc003sle.1_Missense_Mutation_p.D390N|MAD1L1_uc003slf.1_Missense_Mutation_p.D661N|MAD1L1_uc003slg.1_Missense_Mutation_p.D661N|MAD1L1_uc010ksh.1_Missense_Mutation_p.D661N|MAD1L1_uc003sli.1_Missense_Mutation_p.D569N|MAD1L1_uc010ksi.1_Missense_Mutation_p.D614N|MAD1L1_uc010ksj.2_Missense_Mutation_p.D661N|MAD1L1_uc003sld.1_Missense_Mutation_p.D117N	p.D661N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2247	-		Ovarian(82;0.0272)	661					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1981G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442768	0.83993	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.993	T	0.55823	-0.8080	10	0.45353	T	0.12	-51.7239	17.7612	0.88465	0.0:1.0:0.0:0.0	.	660;569;661	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	N	569;661;661;212;661;212;117	ENSP00000384155:D569N;ENSP00000382562:D661N;ENSP00000385334:D661N;ENSP00000265854:D661N;ENSP00000394886:D212N;ENSP00000394069:D117N	ENSP00000265854:D661N	D	-	1	0	MAD1L1	1904379	1.000000	0.71417	0.958000	0.39756	0.366000	0.29705	7.339000	0.79282	2.623000	0.88846	0.655000	0.94253	GAC		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		4	9	0	0	0	0	4	9				
DGKB	1607	broad.mit.edu	37	7	14722240	14722240	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:14722240G>T	ENST00000403951.2	-	12	1392	c.973C>A	c.(973-975)Cac>Aac	p.H325N	DGKB_ENST00000399322.3_Missense_Mutation_p.H325N|DGKB_ENST00000406247.3_Missense_Mutation_p.H325N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.H325N|DGKB_ENST00000444700.2_Missense_Mutation_p.H318N|DGKB_ENST00000258767.5_Missense_Mutation_p.H325N|DGKB_ENST00000407950.1_Missense_Mutation_p.H318N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	325					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						ACAGTTTTGTGGCACTTATCA	0.423																																						uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(973-975)CAC>AAC		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						207.0	195.0	199.0					7																	14722240		1969	4162	6131	SO:0001583	missense	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.chr7:14722240G>T	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.973C>A	7.37:g.14722240G>T	ENSP00000385780:p.His325Asn					DGKB_uc011jxt.1_Missense_Mutation_p.H318N|DGKB_uc003sta.2_Missense_Mutation_p.H325N|DGKB_uc011jxu.1_Missense_Mutation_p.H325N	p.H325N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			11	1160	-			325			Phorbol-ester/DAG-type 2.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.973C>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252815	0.59212	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.97	5.97	0.96955	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.92857	0.7728	L	0.31526	0.94	0.58432	D	0.999997	P;B;B;D	0.59357	0.955;0.04;0.04;0.985	D;B;B;P	0.63113	0.911;0.051;0.051;0.801	D	0.89780	0.3960	10	0.19147	T	0.46	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	325;318;325;325	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	N	325;325;325;325;318;318;325	ENSP00000385780:H325N;ENSP00000382260:H325N;ENSP00000258767:H325N;ENSP00000384909:H325N;ENSP00000385031:H318N;ENSP00000388451:H318N;ENSP00000386066:H325N	ENSP00000258767:H325N	H	-	1	0	DGKB	14688765	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	CAC		0.423	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		40	93	1	0	1.49e-12	1.95e-12	40	93				
PRPS1L1	221823	broad.mit.edu	37	7	18067285	18067285	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:18067285A>T	ENST00000506618.2	-	1	201	c.121T>A	c.(121-123)Tgc>Agc	p.C41S		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	41					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATTTCCACGCAGGTCTCCTGG	0.512																																						uc003stz.2		NA																	0				ovary(1)	1						c.(121-123)TGC>AGC		phosphoribosyl pyrophosphate synthetase 1-like							251.0	248.0	249.0					7																	18067285		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067285A>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.121T>A	7.37:g.18067285A>T	ENSP00000424595:p.Cys41Ser						p.C41S	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	202	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		41					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.121T>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	A	1.464	-0.561704	0.03939	.	.	ENSG00000229937	ENST00000506618	D	0.90844	-2.74	4.27	-1.68	0.08212	.	.	.	.	.	T	0.67915	0.2944	N	0.01209	-0.955	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.64313	-0.6437	8	0.02654	T	1	.	9.1961	0.37228	0.4489:0.0:0.0:0.5511	.	41	P21108	PRPS3_HUMAN	S	41	ENSP00000424595:C41S	ENSP00000424595:C41S	C	-	1	0	PRPS1L1	18033810	0.998000	0.40836	0.517000	0.27799	0.922000	0.55478	3.663000	0.54518	-0.051000	0.13334	0.459000	0.35465	TGC		0.512	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		65	138	0	0	0	0	65	138				
CRHR2	1395	broad.mit.edu	37	7	30706845	30706845	+	Splice_Site	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:30706845T>C	ENST00000471646.1	-	3	731	c.314A>G	c.(313-315)aAg>aGg	p.K105R	CRHR2_ENST00000348438.4_Splice_Site_p.K132R|CRHR2_ENST00000506074.2_Splice_Site_p.K105R|CRHR2_ENST00000341843.4_Splice_Site_p.K91R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	105					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCACTCACCTTGTCATCCAA	0.517																																						uc003tbn.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(313-315)AAG>AGG		corticotropin releasing hormone receptor 2							182.0	140.0	154.0					7																	30706845		2203	4300	6503	SO:0001630	splice_region_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30706845T>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.315+1A>G	7.37:g.30706845T>C						CRHR2_uc010kvw.1_Missense_Mutation_p.K105R|CRHR2_uc010kvx.1_Missense_Mutation_p.K105R|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Missense_Mutation_p.K91R|CRHR2_uc003tbp.2_Missense_Mutation_p.K132R	p.K105R	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			3	558	-			105			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.314A>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690538	0.48097	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.65	4.46	0.54185	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.78801	2.425	0.58432	D	0.999999	B;B;B;B;B	0.19935	0.04;0.017;0.03;0.004;0.04	B;B;B;B;B	0.21151	0.022;0.015;0.033;0.022;0.022	T	0.45086	-0.9285	10	0.39692	T	0.17	.	11.1751	0.48595	0.0:0.0:0.1543:0.8457	.	105;105;132;91;105	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	R	105;132;91;105	ENSP00000418722:K105R;ENSP00000340943:K132R;ENSP00000344304:K91R;ENSP00000426498:K105R	ENSP00000344304:K91R	K	-	2	0	CRHR2	30673370	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.993000	0.70616	1.036000	0.39998	0.459000	0.35465	AAG		0.517	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		Missense_Mutation	15	47	0	0	0	0	15	47				
CCDC129	223075	broad.mit.edu	37	7	31683113	31683113	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:31683113C>T	ENST00000407970.3	+	11	2167	c.2129C>T	c.(2128-2130)aCc>aTc	p.T710I	CCDC129_ENST00000451887.2_Missense_Mutation_p.T736I|CCDC129_ENST00000319386.3_Missense_Mutation_p.T562I|CCDC129_ENST00000409210.1_Missense_Mutation_p.T618I	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	710										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCTGTAATGACCCAGATGTCC	0.522																																						uc003tcj.1		NA																	0					0						c.(2128-2130)ACC>ATC		coiled-coil domain containing 129							64.0	67.0	66.0					7																	31683113		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683113C>T	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.2129C>T	7.37:g.31683113C>T	ENSP00000384416:p.Thr710Ile					CCDC129_uc011kad.1_Missense_Mutation_p.T720I|CCDC129_uc003tci.1_Missense_Mutation_p.T561I|CCDC129_uc011kae.1_Missense_Mutation_p.T736I|CCDC129_uc003tck.1_Missense_Mutation_p.T618I	p.T710I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3122	+			710					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2129C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	6.012	0.370617	0.11409	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.16743	2.33;2.58;2.58;2.32	5.9	-1.13	0.09775	.	0.944658	0.08882	N	0.879920	T	0.06096	0.0158	N	0.03948	-0.315	0.18873	N	0.999988	B;B;B;B	0.11235	0.004;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.41052	-0.9530	10	0.05833	T	0.94	6.5054	9.7844	0.40666	0.0:0.5175:0.0:0.4825	.	736;720;710;562	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	I	562;710;736;720;618	ENSP00000313062:T562I;ENSP00000384416:T710I;ENSP00000395835:T736I;ENSP00000387214:T618I	ENSP00000313062:T562I	T	+	2	0	CCDC129	31649638	0.014000	0.17966	0.019000	0.16419	0.319000	0.28217	-0.097000	0.11042	-0.410000	0.07542	0.655000	0.94253	ACC		0.522	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	45	0	0	0	0	25	45				
PDE1C	5137	broad.mit.edu	37	7	32209472	32209472	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:32209472C>A	ENST00000396193.1	-	3	826	c.233G>T	c.(232-234)cGa>cTa	p.R78L		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTCTGGGGGTCGAGGGTCATG	0.507																																						uc003tco.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(232-234)CGA>CTA		phosphodiesterase 1C							177.0	152.0	160.0					7																	32209472		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209472C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.233G>T	7.37:g.32209472C>A	ENSP00000379496:p.Arg78Leu						p.R78L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	827	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.233G>T	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990371	0.74589	.	.	ENSG00000154678	ENST00000396193	T	0.79653	-1.29	5.75	5.75	0.90469	.	122.407000	0.00166	N	0.000000	T	0.71710	0.3372	N	0.08118	0	0.80722	D	1	P	0.43024	0.798	B	0.35073	0.195	T	0.63323	-0.6663	10	0.46703	T	0.11	.	19.5452	0.95291	0.0:1.0:0.0:0.0	.	78	E9PE92	.	L	78	ENSP00000379496:R78L	ENSP00000379496:R78L	R	-	2	0	PDE1C	32175997	0.987000	0.35691	0.274000	0.24659	0.978000	0.69477	6.505000	0.73708	2.732000	0.93576	0.655000	0.94253	CGA		0.507	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			29	64	1	0	1.05e-18	1.44e-18	29	64				
NPSR1	387129	broad.mit.edu	37	7	34889223	34889223	+	Missense_Mutation	SNP	G	G	A	rs377675594		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:34889223G>A	ENST00000360581.1	+	9	1200	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292K|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381539.3_Silent_p.*391*	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	358						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAGAACTGAGAGGCATGA	0.488																																						uc003teg.1		NA																	0				skin(3)|pancreas(1)	4						c.(1072-1074)GAG>AAG		G protein-coupled receptor for asthma	Halothane(DB01159)	G	LYS/GLU,	0,4406		0,0,2203	135.0	122.0	126.0		1072,	2.4	0.3	7		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	NPSR1	NM_207172.1,NM_207173.1	56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,	358/372,	34889223	1,13005	2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34889223G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1072G>A	7.37:g.34889223G>A	ENSP00000353788:p.Glu358Lys					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.*391*|NPSR1_uc010kwt.1_Missense_Mutation_p.E205K|NPSR1_uc010kwu.1_Missense_Mutation_p.E148K|NPSR1_uc010kwv.1_Missense_Mutation_p.E292K|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	p.E358K	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			9	1200	+			358			Cytoplasmic (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.1072G>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490682	0.26686	0.0	1.16E-4	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481	T;T	0.74947	-0.73;-0.89	5.24	2.44	0.29823	.	.	.	.	.	T	0.65186	0.2667	L	0.59436	1.845	0.80722	D	1	B;B	0.31548	0.328;0.191	B;B	0.31101	0.124;0.073	T	0.54275	-0.8318	9	0.22706	T	0.39	.	7.7393	0.28833	0.1484:0.1349:0.7167:0.0	.	292;358	Q6W5P4-2;Q6W5P4	.;NPSR1_HUMAN	K	358;292;161	ENSP00000353788:E358K;ENSP00000370953:E292K	ENSP00000334093:E161K	E	+	1	0	NPSR1	34855748	0.989000	0.36119	0.326000	0.25389	0.065000	0.16274	2.081000	0.41596	0.352000	0.24053	0.555000	0.69702	GAG		0.488	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		40	80	0	0	0	0	40	80				
NME8	51314	broad.mit.edu	37	7	37903952	37903952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:37903952G>A	ENST00000199447.4	+	9	829	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E153K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	153					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)										TTTTCCAGAGGAATTATACAG	0.284																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(457-459)GAA>AAA		thioredoxin domain containing 3							20.0	22.0	21.0					7																	37903952		2190	4283	6473	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.chr7:37903952G>A	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.457G>A	7.37:g.37903952G>A	ENSP00000199447:p.Glu153Lys						p.E153K	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			9	829	+			153					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.457G>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	2.298	-0.360784	0.05103	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.30448	1.53;1.53	4.65	-1.8	0.07907	.	0.662303	0.12494	N	0.464003	T	0.11922	0.0290	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35724	-0.9777	10	0.02654	T	1	-0.5687	6.1411	0.20261	0.471:0.1575:0.3715:0.0	.	153	Q8N427	TXND3_HUMAN	K	153;98;98;153	ENSP00000199447:E153K;ENSP00000397063:E153K	ENSP00000199447:E153K	E	+	1	0	TXNDC3	37870477	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.403000	0.20982	-0.521000	0.06426	-0.471000	0.05019	GAA		0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		12	24	0	0	0	0	12	24				
ADCY1	107	broad.mit.edu	37	7	45697343	45697343	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:45697343C>A	ENST00000297323.7	+	6	1188	c.1166C>A	c.(1165-1167)aCc>aAc	p.T389N	ADCY1_ENST00000432715.1_Missense_Mutation_p.T164N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	389					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGAAGCCACCGAGGTGGAT	0.607																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1165-1167)ACC>AAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						87.0	68.0	74.0					7																	45697343		2203	4300	6503	SO:0001583	missense	107				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45697343C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1166C>A	7.37:g.45697343C>A	ENSP00000297323:p.Thr389Asn					ADCY1_uc003tnd.2_Missense_Mutation_p.T164N	p.T389N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			6	1184	+			389			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1166C>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163306	0.78226	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.81078	-1.45;-1.45	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	L	0.59912	1.85	0.80722	D	1	B;D	0.55800	0.278;0.973	B;P	0.58928	0.13;0.848	D	0.86231	0.1637	10	0.54805	T	0.06	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	389;164	Q08828;C9J1J0	ADCY1_HUMAN;.	N	164;389;389	ENSP00000392721:T164N;ENSP00000297323:T389N	ENSP00000297323:T389N	T	+	2	0	ADCY1	45663868	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	7.091000	0.76923	2.446000	0.82766	0.655000	0.94253	ACC		0.607	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	15	1	0	1.24e-05	1.4e-05	5	15				
TNS3	64759	broad.mit.edu	37	7	47333420	47333420	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47333420T>C	ENST00000398879.1	-	25	4049	c.3683A>G	c.(3682-3684)gAt>gGt	p.D1228G	TNS3_ENST00000311160.9_Missense_Mutation_p.D1228G|TNS3_ENST00000355730.3_Missense_Mutation_p.D988G			Q68CZ2	TENS3_HUMAN	tensin 3	1228	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						ATTGGCCAAATCTCCAGCTGT	0.438																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(3682-3684)GAT>GGT		tensin 3							67.0	65.0	65.0					7																	47333420		1868	4099	5967	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47333420T>C	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.3683A>G	7.37:g.47333420T>C	ENSP00000381854:p.Asp1228Gly					TNS3_uc003tnw.2_Missense_Mutation_p.D1228G	p.D1228G	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			25	4050	-			1228			SH2.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3683A>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710162	0.89018	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.96041	-3.4;-3.4;-3.89	5.2	5.2	0.72013	SH2 motif (4);	0.924042	0.09301	N	0.820981	D	0.97362	0.9137	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94624	0.7816	10	0.62326	D	0.03	-29.6049	13.3135	0.60394	0.0:0.0:0.0:1.0	.	1228	Q68CZ2	TENS3_HUMAN	G	1228;1228;988;684	ENSP00000312143:D1228G;ENSP00000381854:D1228G;ENSP00000347968:D988G	ENSP00000312143:D1228G	D	-	2	0	TNS3	47299945	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	7.617000	0.83032	2.084000	0.62774	0.533000	0.62120	GAT		0.438	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		28	50	0	0	0	0	28	50				
TNS3	64759	broad.mit.edu	37	7	47408232	47408232	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47408232C>T	ENST00000398879.1	-	17	2377	c.2011G>A	c.(2011-2013)Gga>Aga	p.G671R	TNS3_ENST00000311160.9_Missense_Mutation_p.G671R|TNS3_ENST00000355730.3_Missense_Mutation_p.G431R			Q68CZ2	TENS3_HUMAN	tensin 3	671					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						ACCTGGTCTCCTGGAAACCTG	0.632																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(2011-2013)GGA>AGA		tensin 3							130.0	148.0	142.0					7																	47408232		2067	4200	6267	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408232C>T	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.2011G>A	7.37:g.47408232C>T	ENSP00000381854:p.Gly671Arg					TNS3_uc003tnw.2_Missense_Mutation_p.G671R	p.G671R	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	2378	-			671					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2011G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	2.227	-0.377075	0.05000	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93426	-2.8;-2.8;-3.22;-2.88	5.45	2.19	0.27852	.	3.108470	0.01078	N	0.004922	D	0.85978	0.5823	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.17098	0.017	T	0.76099	-0.3083	10	0.15952	T	0.53	-1.497	5.465	0.16637	0.0:0.5828:0.1504:0.2667	.	671	Q68CZ2	TENS3_HUMAN	R	671;781;671;431;127;774	ENSP00000312143:G671R;ENSP00000381854:G671R;ENSP00000347968:G431R;ENSP00000414358:G774R	ENSP00000312143:G671R	G	-	1	0	TNS3	47374757	0.000000	0.05858	0.003000	0.11579	0.363000	0.29612	-0.159000	0.10056	1.116000	0.41820	0.655000	0.94253	GGA		0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		60	113	0	0	0	0	60	113				
PKD1L1	168507	broad.mit.edu	37	7	47894539	47894539	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:47894539C>G	ENST00000289672.2	-	30	4850	c.4800G>C	c.(4798-4800)caG>caC	p.Q1600H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1600					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						CAATTTCTATCTGTAGAGATT	0.398																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4798-4800)CAG>CAC		polycystin-1L1							90.0	92.0	91.0					7																	47894539		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47894539C>G	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.4800G>C	7.37:g.47894539C>G	ENSP00000289672:p.Gln1600His						p.Q1600H	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			30	4800	-			1600			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4800G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	1.596	-0.527677	0.04141	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	5.22	3.39	0.38822	.	0.187541	0.33127	N	0.005250	T	0.07954	0.0199	N	0.14661	0.345	0.19945	N	0.999948	B	0.33549	0.417	B	0.28638	0.092	T	0.21895	-1.0232	10	0.10636	T	0.68	-8.8979	3.5423	0.07816	0.1766:0.5618:0.1705:0.0911	.	1600	Q8TDX9	PK1L1_HUMAN	H	1600	ENSP00000289672:Q1600H	ENSP00000289672:Q1600H	Q	-	3	2	PKD1L1	47861064	0.973000	0.33851	0.185000	0.23176	0.140000	0.21249	0.177000	0.16801	1.200000	0.43188	0.655000	0.94253	CAG		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		31	63	0	0	0	0	31	63				
ABCA13	154664	broad.mit.edu	37	7	48285513	48285513	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48285513C>A	ENST00000435803.1	+	13	1569	c.1545C>A	c.(1543-1545)gtC>gtA	p.V515V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	515					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						AGAAGGAGGTCTTTTTGCCGC	0.448																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1543-1545)GTC>GTA		ATP binding cassette, sub-family A (ABC1),							94.0	87.0	89.0					7																	48285513		1884	4108	5992	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48285513C>A	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.1545C>A	7.37:g.48285513C>A						ABCA13_uc010kyr.2_Silent_p.V18V	p.V515V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			13	1570	+			515					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.1545C>A	CCDS47584.1																																																																																				0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	37	1	0	6.72e-11	8.57e-11	15	37				
ABCA13	154664	broad.mit.edu	37	7	48318403	48318403	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:48318403A>T	ENST00000435803.1	+	18	7636	c.7612A>T	c.(7612-7614)Aca>Tca	p.T2538S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2538					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						GAAGATGTCCACAGTTTTTAA	0.393																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7612-7614)ACA>TCA		ATP binding cassette, sub-family A (ABC1),							132.0	135.0	134.0					7																	48318403		1847	4087	5934	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318403A>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.7612A>T	7.37:g.48318403A>T	ENSP00000411096:p.Thr2538Ser					ABCA13_uc010kys.1_5'Flank	p.T2538S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7637	+			2538					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7612A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777138	0.31411	.	.	ENSG00000179869	ENST00000435803	T	0.57595	0.39	4.87	0.858	0.19030	.	1.140140	0.06638	N	0.760609	T	0.33614	0.0869	L	0.29908	0.895	0.09310	N	1	P	0.43477	0.808	B	0.33690	0.168	T	0.26950	-1.0088	10	0.87932	D	0	.	2.7923	0.05391	0.5536:0.0:0.2592:0.1872	.	2538	Q86UQ4	ABCAD_HUMAN	S	2538	ENSP00000411096:T2538S	ENSP00000411096:T2538S	T	+	1	0	ABCA13	48288949	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.471000	0.22100	-0.091000	0.12440	0.533000	0.62120	ACA		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		55	134	0	0	0	0	55	134				
ZPBP	11055	broad.mit.edu	37	7	50129302	50129302	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:50129302C>G	ENST00000046087.2	-	2	200	c.131G>C	c.(130-132)gGa>gCa	p.G44A	ZPBP_ENST00000419417.1_Missense_Mutation_p.G44A	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	44					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AACCAAGTGTCCAACTATCAA	0.318																																						uc003tou.2		NA																	0					0						c.(130-132)GGA>GCA		zona pellucida binding protein isoform 1							33.0	33.0	33.0					7																	50129302		2203	4297	6500	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129302C>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.131G>C	7.37:g.50129302C>G	ENSP00000046087:p.Gly44Ala					ZPBP_uc010kyw.2_Missense_Mutation_p.G44A	p.G44A	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			2	201	-	Glioma(55;0.08)|all_neural(89;0.245)		44					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.131G>C	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485630	0.26686	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.53640	0.61;0.63;1.01	5.49	-2.89	0.05665	.	0.635593	0.13725	N	0.367117	T	0.34308	0.0893	L	0.52364	1.645	0.20638	N	0.999877	B;B	0.17852	0.024;0.024	B;B	0.13407	0.009;0.009	T	0.22871	-1.0204	9	.	.	.	-2.2145	7.5784	0.27950	0.0:0.2743:0.1248:0.6009	.	44;44	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	A	44;44;5	ENSP00000046087:G44A;ENSP00000402071:G44A;ENSP00000390054:G5A	.	G	-	2	0	ZPBP	50099848	0.890000	0.30428	0.647000	0.29507	0.507000	0.33981	0.210000	0.17455	-0.550000	0.06183	0.557000	0.71058	GGA		0.318	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		16	22	0	0	0	0	16	22				
GTF2I	2969	broad.mit.edu	37	7	74113421	74113421	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:74113421C>G	ENST00000324896.4	+	4	758	c.369C>G	c.(367-369)tgC>tgG	p.C123W	GTF2I_ENST00000346152.4_Missense_Mutation_p.C123W|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.C123W|GTF2I_ENST00000443166.1_Missense_Mutation_p.C123W|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.C123W	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	123					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCTGCTTTTGCTATGGTAAAA	0.294																																						uc003uau.2		NA																	0					0						c.(367-369)TGC>TGG		general transcription factor IIi isoform 1							36.0	36.0	36.0					7																	74113421		2198	4299	6497	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74113421C>G	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.369C>G	7.37:g.74113421C>G	ENSP00000322542:p.Cys123Trp					GTF2I_uc003uat.2_Missense_Mutation_p.C123W|GTF2I_uc003uav.2_Missense_Mutation_p.C123W|GTF2I_uc003uaw.2_Missense_Mutation_p.C123W|GTF2I_uc003uay.2_Missense_Mutation_p.C123W|GTF2I_uc003uax.2_Missense_Mutation_p.C123W	p.C123W	NM_032999	NP_127492	P78347	GTF2I_HUMAN			4	739	+			123			GTF2I-like 1.		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.369C>G	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130135	0.56721	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.77	2.94	0.34122	.	0.068968	0.64402	D	0.000009	T	0.58892	0.2154	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.995;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.97110	0.999;0.992;0.997;0.998;0.999;1.0	T	0.60682	-0.7215	10	0.66056	D	0.02	-4.4312	7.4256	0.27096	0.1239:0.6824:0.0:0.1937	.	123;123;123;123;123;123	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	W	123;118;123;123;123;123	ENSP00000322542:C123W;ENSP00000322671:C123W;ENSP00000322599:C123W;ENSP00000387651:C123W;ENSP00000404240:C123W	ENSP00000322542:C123W	C	+	3	2	GTF2I	73751357	0.999000	0.42202	1.000000	0.80357	0.955000	0.61496	0.368000	0.20399	1.409000	0.46915	0.585000	0.79938	TGC		0.294	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	23	0	0	0	0	7	23				
PHTF2	57157	broad.mit.edu	37	7	77569410	77569410	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:77569410G>A	ENST00000248550.7	+	13	1607	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	PHTF2_ENST00000422959.2_Missense_Mutation_p.G477S|PHTF2_ENST00000416283.2_Missense_Mutation_p.G477S|PHTF2_ENST00000424760.1_Missense_Mutation_p.G473S|PHTF2_ENST00000275575.7_Missense_Mutation_p.G473S|PHTF2_ENST00000307305.8_Missense_Mutation_p.G473S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCTCATACTGGGTTTAACTCC	0.408																																						uc003ugs.3		NA																	0				ovary(1)	1						c.(1531-1533)GGT>AGT		putative homeodomain transcription factor 2							91.0	85.0	87.0					7																	77569410		1858	4094	5952	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569410G>A	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1531G>A	7.37:g.77569410G>A	ENSP00000248550:p.Gly511Ser					PHTF2_uc003ugp.2_Missense_Mutation_p.G473S|PHTF2_uc003ugq.3_Missense_Mutation_p.G473S|PHTF2_uc010ldv.2_Missense_Mutation_p.G473S|PHTF2_uc003ugt.3_Missense_Mutation_p.G477S|PHTF2_uc003ugu.3_Missense_Mutation_p.G473S|PHTF2_uc010ldw.1_Missense_Mutation_p.G293S	p.G511S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			13	1657	+			511					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1531G>A		.	.	.	.	.	.	.	.	.	.	G	28.4	4.917697	0.92249	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.78	5.78	0.91487	.	0.113194	0.64402	D	0.000013	T	0.64249	0.2581	N	0.21142	0.635	0.80722	D	1	D;P;D;B;B;P	0.89917	1.0;0.944;1.0;0.217;0.137;0.901	D;P;D;B;B;P	0.97110	0.989;0.719;1.0;0.189;0.095;0.49	T	0.56390	-0.7987	9	0.14252	T	0.57	-7.2612	20.0165	0.97478	0.0:0.0:1.0:0.0	.	272;473;477;511;473;473	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	S	477;477;473;473;473;477;511	.	ENSP00000248550:G511S	G	+	1	0	PHTF2	77407346	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.726000	0.98782	2.736000	0.93811	0.557000	0.71058	GGT		0.408	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		21	59	0	0	0	0	21	59				
PCLO	27445	broad.mit.edu	37	7	82538271	82538271	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:82538271C>A	ENST00000333891.9	-	8	13696	c.13359G>T	c.(13357-13359)ttG>ttT	p.L4453F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4453F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L4453F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCATTTTCCAAACGAGACT	0.443																																						uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13357-13359)TTG>TTT		piccolo isoform 1							109.0	102.0	105.0					7																	82538271		1918	4130	6048	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538271C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13359G>T	7.37:g.82538271C>A	ENSP00000334319:p.Leu4453Phe					PCLO_uc003uhv.2_Missense_Mutation_p.L4453F	p.L4453F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13648	-			4384						Missense_Mutation	SNP	ENST00000333891.9	37	c.13359G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954216	0.34471	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.31	5.39	4.5	0.54988	.	.	.	.	.	T	0.35856	0.0946	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68943	0.935;0.961	T	0.05146	-1.0903	9	0.87932	D	0	.	15.0193	0.71617	0.0:0.9281:0.0:0.0719	.	4453;4453	Q9Y6V0-5;Q9Y6V0-6	.;.	F	4453	ENSP00000334319:L4453F;ENSP00000388393:L4453F	ENSP00000334319:L4453F	L	-	3	2	PCLO	82376207	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.825000	0.39081	2.699000	0.92147	0.591000	0.81541	TTG		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	58	1	0	2.38e-13	3.13e-13	22	58				
CDK14	5218	broad.mit.edu	37	7	90419960	90419960	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:90419960C>T	ENST00000380050.3	+	5	668	c.537C>T	c.(535-537)atC>atT	p.I179I	CDK14_ENST00000436577.2_Silent_p.I50I|CDK14_ENST00000265741.3_Silent_p.I161I|CDK14_ENST00000406263.1_Silent_p.I133I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCACAGCTATCAGGGAAGGTA	0.403																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NA																	0				lung(3)|ovary(1)	4						c.(535-537)ATC>ATT		PFTAIRE protein kinase 1							156.0	153.0	154.0					7																	90419960		2203	4300	6503	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419960C>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.537C>T	7.37:g.90419960C>T						CDK14_uc003ukt.1_Silent_p.I133I|CDK14_uc003ukv.1_Silent_p.I133I|CDK14_uc003uku.1_Silent_p.I133I|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.I161I|CDK14_uc010les.1_Silent_p.I133I|CDK14_uc011khl.1_Silent_p.I50I	p.I179I	NM_012395	NP_036527	O94921	CDK14_HUMAN			5	759	+			179			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.537C>T																																																																																					0.403	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		15	32	0	0	0	0	15	32				
CASD1	64921	broad.mit.edu	37	7	94183816	94183816	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94183816A>G	ENST00000297273.4	+	17	2343	c.2056A>G	c.(2056-2058)Aga>Gga	p.R686G		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	686						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCCTAATAAGAAACATCCC	0.274																																						uc003uni.3		NA																	0				ovary(2)	2						c.(2056-2058)AGA>GGA		CAS1 domain containing 1 precursor							137.0	138.0	138.0					7																	94183816		2202	4300	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94183816A>G	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2056A>G	7.37:g.94183816A>G	ENSP00000297273:p.Arg686Gly					CASD1_uc003unj.3_Missense_Mutation_p.R686G	p.R686G	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	2283	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		686			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2056A>G	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237719	0.58886	.	.	ENSG00000127995	ENST00000297273	T	0.64260	-0.09	5.3	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.89601	3.045	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.83939	0.0310	10	0.87932	D	0	.	11.9156	0.52763	0.7246:0.2754:0.0:0.0	.	686;686	Q8WZ77;Q96PB1	.;CASD1_HUMAN	G	686	ENSP00000297273:R686G	ENSP00000297273:R686G	R	+	1	2	CASD1	94021752	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	4.039000	0.57325	0.937000	0.37394	-0.446000	0.05623	AGA		0.274	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		24	59	0	0	0	0	24	59				
PPP1R9A	55607	broad.mit.edu	37	7	94740690	94740690	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:94740690G>T	ENST00000433881.1	+	3	2047	c.1515G>T	c.(1513-1515)gtG>gtT	p.V505V	PPP1R9A_ENST00000433360.1_Silent_p.V505V|PPP1R9A_ENST00000456331.2_Silent_p.V505V|PPP1R9A_ENST00000340694.4_Silent_p.V505V|PPP1R9A_ENST00000289495.5_Silent_p.V505V|PPP1R9A_ENST00000424654.1_Silent_p.V505V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	505	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTTCCCAGTGGAGCTAGAGA	0.373										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1513-1515)GTG>GTT		protein phosphatase 1, regulatory (inhibitor)							60.0	61.0	61.0					7																	94740690		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94740690G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1515G>T	7.37:g.94740690G>T		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Silent_p.V505V|PPP1R9A_uc011kif.1_Silent_p.V505V|PPP1R9A_uc003unq.2_Silent_p.V505V|PPP1R9A_uc011kig.1_Silent_p.V505V	p.V505V	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	1797	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		505			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.1515G>T	CCDS34683.1																																																																																				0.373	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		23	46	1	0	2.32e-17	3.19e-17	23	46				
PUS7	54517	broad.mit.edu	37	7	105111200	105111200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:105111200C>A	ENST00000356362.2	-	11	1547	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.E445*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	445	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGCTGCCCTTCCACACACCTT	0.453																																					Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(1333-1335)GAA>TAA		pseudouridylate synthase 7 homolog							160.0	151.0	154.0					7																	105111200		2203	4300	6503	SO:0001587	stop_gained	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105111200C>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1333G>T	7.37:g.105111200C>A	ENSP00000348722:p.Glu445*					PUS7_uc010lji.2_Nonsense_Mutation_p.E451*|PUS7_uc003vcy.2_Nonsense_Mutation_p.E445*|PUS7_uc003vcz.1_Nonsense_Mutation_p.E445*	p.E445*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			11	1552	-			445			TRUD.		Q75MG4|Q9NX19	Nonsense_Mutation	SNP	ENST00000356362.2	37	c.1333G>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	C	40	8.315621	0.98757	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	.	.	.	5.94	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.3809	14.087	0.64964	0.0:0.9284:0.0:0.0716	.	.	.	.	X	445	.	ENSP00000348722:E445X	E	-	1	0	PUS7	104898436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.533000	0.49186	0.561000	0.74099	GAA		0.453	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		56	89	1	0	2.17e-26	3.11e-26	56	89				
CFTR	1080	broad.mit.edu	37	7	117267811	117267811	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117267811G>T	ENST00000003084.6	+	22	3836	c.3704G>T	c.(3703-3705)aGt>aTt	p.S1235I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.S1174I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1235	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> R (in CF; dbSNP:rs34911792).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTCTCAATAAGTCCTGGCCAG	0.438									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(3703-3705)AGT>ATT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						94.0	88.0	90.0					7																	117267811		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117267811G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3704G>T	7.37:g.117267811G>T	ENSP00000003084:p.Ser1235Ile					CFTR_uc011knq.1_Missense_Mutation_p.S641I	p.S1235I	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		22	3836	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1235		S -> R (in CF).	Cytoplasmic (Potential).|ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3704G>T	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.96|17.96	3.517090|3.517090	0.64634|0.64634	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.94417|.	-3.42;-3.42;-3.42|.	5.86|5.86	5.86|5.86	0.93980|0.93980	ABC transporter-like (1);|.	0.125657|.	0.85682|.	D|.	0.000000|.	T|T	0.66982|0.66982	0.2845|0.2845	L|L	0.61036|0.61036	1.89|1.89	0.42107|0.42107	D|D	0.991364|0.991364	P|.	0.44429|.	0.835|.	P|.	0.46543|.	0.52|.	T|T	0.64232|0.64232	-0.6456|-0.6456	10|5	0.62326|.	D|.	0.03|.	-20.2857|-20.2857	13.7319|13.7319	0.62792|0.62792	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	1235|.	P13569|.	CFTR_HUMAN|.	I|F	1235;1174;1205|177	ENSP00000003084:S1235I;ENSP00000403677:S1174I;ENSP00000389119:S1205I|.	ENSP00000003084:S1235I|.	S|V	+|+	2|1	0|0	CFTR|CFTR	117055047|117055047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.425000|4.425000	0.59875|0.59875	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	AGT|GTC		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		11	43	1	0	0.00136819	0.00146491	11	43				
CTTNBP2	83992	broad.mit.edu	37	7	117432538	117432538	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:117432538G>T	ENST00000160373.3	-	4	803	c.712C>A	c.(712-714)Cgg>Agg	p.R238R	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	238					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCTGTTCCCGCTCAGTGTCA	0.453																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(712-714)CGG>AGG		cortactin binding protein 2							130.0	106.0	114.0					7																	117432538		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117432538G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.712C>A	7.37:g.117432538G>T							p.R238R	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	804	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		238			Potential.		O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.712C>A	CCDS5774.1																																																																																				0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		13	39	1	0	2.27e-07	2.69e-07	13	39				
KCND2	3751	broad.mit.edu	37	7	119915355	119915355	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:119915355G>T	ENST00000331113.4	+	1	1634	c.669G>T	c.(667-669)gaG>gaT	p.E223D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	223					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCTGTGGAGAGCGGTATGCTG	0.542																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(667-669)GAG>GAT		potassium voltage-gated channel, Shal-related							124.0	111.0	115.0					7																	119915355		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915355G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.669G>T	7.37:g.119915355G>T	ENSP00000333496:p.Glu223Asp						p.E223D	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1634	+	all_neural(327;0.117)		223					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.669G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822668	0.32237	.	.	ENSG00000184408	ENST00000331113	D	0.97430	-4.38	5.58	3.74	0.42951	.	0.133554	0.49305	D	0.000149	D	0.93654	0.7973	L	0.43646	1.37	0.46113	D	0.998876	B	0.14012	0.009	B	0.16722	0.016	D	0.89889	0.4036	9	.	.	.	.	10.0458	0.42186	0.2106:0.0:0.7894:0.0	.	223	Q9NZV8	KCND2_HUMAN	D	223	ENSP00000333496:E223D	.	E	+	3	2	KCND2	119702591	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.556000	0.45862	1.342000	0.45619	0.563000	0.77884	GAG		0.542	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		27	39	1	0	7.42e-09	9.08e-09	27	39				
EXOC4	60412	broad.mit.edu	37	7	133502223	133502223	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:133502223A>G	ENST00000253861.4	+	11	1689	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	EXOC4_ENST00000545148.1_Missense_Mutation_p.T164A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T453A|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	554					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCACTAAAACATCTGACCC	0.443																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1660-1662)ACA>GCA		SEC8 protein isoform a							67.0	65.0	66.0					7																	133502223		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133502223A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1660A>G	7.37:g.133502223A>G	ENSP00000253861:p.Thr554Ala					EXOC4_uc011kpo.1_Missense_Mutation_p.T453A|EXOC4_uc003vrl.2_Missense_Mutation_p.T164A|EXOC4_uc011kpp.1_Missense_Mutation_p.T86A	p.T554A	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			11	1695	+		Esophageal squamous(399;0.129)	554					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1660A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416496	0.25552	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.86	3.53	0.40419	.	0.367766	0.30356	N	0.009811	T	0.14700	0.0355	N	0.01048	-1.04	0.43531	D	0.995811	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.09862	-1.0655	9	0.07325	T	0.83	.	7.3136	0.26488	0.7072:0.0:0.2928:0.0	.	86;164;554	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	A	554;173;453;164	.	ENSP00000253861:T554A	T	+	1	0	EXOC4	133152763	0.998000	0.40836	0.308000	0.25141	0.967000	0.64934	2.798000	0.47884	1.052000	0.40392	-0.388000	0.06559	ACA		0.443	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		18	23	0	0	0	0	18	23				
DENND2A	27147	broad.mit.edu	37	7	140301270	140301270	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:140301270A>C	ENST00000275884.6	-	2	1345	c.928T>G	c.(928-930)Tct>Gct	p.S310A	DENND2A_ENST00000492720.1_Missense_Mutation_p.S310A|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310A|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310					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)	p.S310A(1)		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)					ggtgggggagaggagggcaga	0.597																																						uc010lnj.2		NA																	1	Substitution - Missense(1)	p.S310A(1)	ovary(1)	ovary(3)|breast(1)	4						c.(928-930)TCT>GCT		DENN/MADD domain containing 2A							44.0	49.0	48.0					7																	140301270		1974	4151	6125	SO:0001583	missense	27147							g.chr7:140301270A>C	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.928T>G	7.37:g.140301270A>C	ENSP00000275884:p.Ser310Ala					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S310A|DENND2A_uc003vvw.2_Missense_Mutation_p.S310A|DENND2A_uc003vvx.2_Missense_Mutation_p.S310A	p.S310A	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	1073	-	Melanoma(164;0.00956)		310					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.928T>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109456	0.56398	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10005	3.63;3.63;3.63;2.92	4.85	4.85	0.62838	.	0.209266	0.43260	D	0.000581	T	0.12817	0.0311	L	0.55834	1.745	0.38068	D	0.936296	B;B	0.29862	0.259;0.104	B;B	0.25291	0.041;0.059	T	0.05241	-1.0897	10	0.51188	T	0.08	-9.5576	14.5958	0.68407	1.0:0.0:0.0:0.0	.	310;310	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	A	310	ENSP00000275884:S310A;ENSP00000442245:S310A;ENSP00000419654:S310A;ENSP00000419464:S310A	ENSP00000275884:S310A	S	-	1	0	DENND2A	139947739	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.161000	0.77505	2.038000	0.60285	0.379000	0.24179	TCT		0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		14	37	0	0	0	0	14	37				
MGAM	8972	broad.mit.edu	37	7	141727480	141727480	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:141727480C>T	ENST00000549489.2	+	10	1261	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	MGAM_ENST00000475668.2_Missense_Mutation_p.T389I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	389	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)	GAATATGGAACCTTAGACAAC	0.463																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(1165-1167)ACC>ATC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						60.0	59.0	59.0					7																	141727480		1867	4108	5975	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.chr7:141727480C>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.1166C>T	7.37:g.141727480C>T	ENSP00000447378:p.Thr389Ile						p.T389I	NM_004668	NP_004659	O43451	MGA_HUMAN			10	1220	+	Melanoma(164;0.0272)		389			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1166C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277983	0.59758	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.94184	-3.37	5.55	-1.44	0.08856	Glycoside hydrolase, superfamily (1);	0.759301	0.12077	N	0.501638	D	0.95648	0.8585	M	0.87456	2.885	0.09310	N	1	P	0.44195	0.828	P	0.48488	0.579	D	0.91464	0.5191	10	0.87932	D	0	.	21.2547	0.99949	0.0:0.3303:0.6697:0.0	.	389	O43451	MGA_HUMAN	I	389;389;266	ENSP00000447378:T389I	ENSP00000316431:T266I	T	+	2	0	MGAM	141373949	0.000000	0.05858	0.000000	0.03702	0.750000	0.42670	-0.115000	0.10741	-0.111000	0.12001	0.655000	0.94253	ACC		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			12	28	0	0	0	0	12	28				
OR9A2	135924	broad.mit.edu	37	7	142723861	142723861	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:142723861A>T	ENST00000350513.2	-	1	421	c.359T>A	c.(358-360)gTg>gAg	p.V120E		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	120						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)					ACACACAGCCACATAACGGTC	0.438																																						uc003wcc.1		NA																	0				skin(1)	1						c.(358-360)GTG>GAG		olfactory receptor, family 9, subfamily A,							99.0	87.0	91.0					7																	142723861		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723861A>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.359T>A	7.37:g.142723861A>T	ENSP00000316518:p.Val120Glu						p.V120E	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	359	-	Melanoma(164;0.059)		120			Cytoplasmic (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.359T>A	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230965	0.39399	.	.	ENSG00000179468	ENST00000350513	T	0.21191	2.02	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.232453	0.21686	U	0.070641	T	0.49949	0.1587	H	0.94582	3.555	0.33792	D	0.625581	D	0.63046	0.992	P	0.61397	0.888	T	0.69331	-0.5173	10	0.87932	D	0	-17.7203	7.0049	0.24830	0.8992:0.0:0.1007:0.0	.	120	Q8NGT5	OR9A2_HUMAN	E	120	ENSP00000316518:V120E	ENSP00000316518:V120E	V	-	2	0	OR9A2	142433983	0.905000	0.30787	0.936000	0.37596	0.041000	0.13682	7.081000	0.76844	2.056000	0.61249	0.459000	0.35465	GTG		0.438	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			28	57	0	0	0	0	28	57				
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:143141256C>A	ENST00000332690.1	+	1	711	c.711C>A	c.(709-711)ccC>ccA	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483																																						uc011ktg.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(6)	6						c.(709-711)CCC>CCA		taste receptor, type 2, member 60							120.0	125.0	123.0					7																	143141256		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141256C>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.711C>A	7.37:g.143141256C>A						uc003wda.2_Intron	p.P237P	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	711	+	Melanoma(164;0.172)		237			Helical; Name=6; (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.711C>A	CCDS5885.1																																																																																				0.483	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			38	69	1	0	2.1e-21	2.93e-21	38	69				
CNTNAP2	26047	broad.mit.edu	37	7	146741075	146741075	+	Missense_Mutation	SNP	G	G	C	rs138738227	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:146741075G>C	ENST00000361727.3	+	4	995	c.479G>C	c.(478-480)cGc>cCc	p.R160P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	160	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R160H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCTATGTGCGCATAGTGCCT	0.433										HNSCC(39;0.1)																												uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(478-480)CGC>CCC		cell recognition molecule Caspr2 precursor							196.0	171.0	179.0					7																	146741075		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.chr7:146741075G>C	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.479G>C	7.37:g.146741075G>C	ENSP00000354778:p.Arg160Pro	HNSCC(39;0.1)					p.R160P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	995	+	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)	160			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.479G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054438	0.75960	.	.	ENSG00000174469	ENST00000361727	D	0.99105	-5.43	5.47	5.47	0.80525	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000060	D	0.99697	0.9885	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97056	0.9767	10	0.87932	D	0	.	17.8968	0.88891	0.0:0.0:1.0:0.0	.	160	Q9UHC6	CNTP2_HUMAN	P	160	ENSP00000354778:R160P	ENSP00000354778:R160P	R	+	2	0	CNTNAP2	146372008	1.000000	0.71417	0.971000	0.41717	0.313000	0.28021	9.695000	0.98691	2.568000	0.86640	0.462000	0.41574	CGC		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	79	0	0	0	0	27	79				
KCNH2	3757	broad.mit.edu	37	7	150644574	150644574	+	Silent	SNP	G	G	A	rs368954514		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:150644574G>A	ENST00000262186.5	-	13	3395	c.2994C>T	c.(2992-2994)ttC>ttT	p.F998F	KCNH2_ENST00000392968.2_Silent_p.F902F|KCNH2_ENST00000330883.4_Silent_p.F658F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	998					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCCAGAAGCTGAAAATGTTGG	0.692																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(2992-2994)TTC>TTT		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	G	,	0,4330		0,0,2165	7.0	9.0	8.0		2994,1974	2.9	1.0	7		8	2,8522		0,2,4260	no	coding-synonymous,coding-synonymous	KCNH2	NM_000238.3,NM_172057.2	,	0,2,6425	AA,AG,GG		0.0235,0.0,0.0156	,	998/1160,658/820	150644574	2,12852	2165	4262	6427	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150644574G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2994C>T	7.37:g.150644574G>A						KCNH2_uc003wib.2_Silent_p.F658F|KCNH2_uc011kux.1_Silent_p.F902F	p.F998F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	3007	-	all_neural(206;0.219)		998			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.2994C>T	CCDS5910.1																																																																																				0.692	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		5	11	0	0	0	0	5	11				
DPP6	1804	broad.mit.edu	37	7	154684051	154684051	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:154684051C>G	ENST00000377770.3	+	26	2600	c.2459C>G	c.(2458-2460)cCg>cGg	p.P820R	DPP6_ENST00000404039.1_Missense_Mutation_p.P756R|DPP6_ENST00000427557.1_Missense_Mutation_p.P713R|DPP6_ENST00000332007.3_Missense_Mutation_p.P758R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	820					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)			CAGATTTACCCGGACGAAAGC	0.517																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(2458-2460)CCG>CGG		dipeptidyl-peptidase 6 isoform 1							88.0	93.0	91.0					7																	154684051		2010	4164	6174	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684051C>G	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.2459C>G	7.37:g.154684051C>G	ENSP00000367001:p.Pro820Arg					DPP6_uc003wli.2_Missense_Mutation_p.P756R|DPP6_uc003wlm.2_Missense_Mutation_p.P758R|DPP6_uc011kvq.1_Missense_Mutation_p.P713R	p.P820R	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2588	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	820			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2459C>G		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990923	0.54041	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.66	4.66	0.58398	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93241	3.395	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	0.86427	0.1758	10	0.87932	D	0	-16.57	17.5681	0.87926	0.0:1.0:0.0:0.0	.	713;758;820;756	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	756;820;758;713	ENSP00000385578:P756R;ENSP00000367001:P820R;ENSP00000328226:P758R;ENSP00000397303:P713R	ENSP00000328226:P758R	P	+	2	0	DPP6	154314984	1.000000	0.71417	0.951000	0.38953	0.069000	0.16628	6.962000	0.76048	2.147000	0.66899	0.655000	0.94253	CCG		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		30	48	0	0	0	0	30	48				
EN2	2020	broad.mit.edu	37	7	155255140	155255140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:155255140G>T	ENST00000297375.4	+	2	1009	c.760G>T	c.(760-762)Gag>Tag	p.E254*		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	254					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTACCGCCGAGCAGCTGCA	0.607																																						uc003wmb.2		NA																	0				central_nervous_system(1)	1						c.(760-762)GAG>TAG		engrailed homeobox 2							63.0	70.0	68.0					7																	155255140		2203	4300	6503	SO:0001587	stop_gained	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255140G>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.760G>T	7.37:g.155255140G>T	ENSP00000297375:p.Glu254*						p.E254*	NM_001427	NP_001418	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1009	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	254			Homeobox.		A4D252|Q549U3|Q9UD58	Nonsense_Mutation	SNP	ENST00000297375.4	37	c.760G>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	G	40	8.079460	0.98643	.	.	ENSG00000164778	ENST00000297375	.	.	.	5.2	5.2	0.72013	.	0.052747	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-30.8235	18.6977	0.91607	0.0:0.0:1.0:0.0	.	.	.	.	X	254	.	ENSP00000297375:E254X	E	+	1	0	EN2	154947901	1.000000	0.71417	0.962000	0.40283	0.951000	0.60555	9.448000	0.97600	2.590000	0.87494	0.655000	0.94253	GAG		0.607	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		26	85	1	0	5.45e-15	7.32e-15	26	85				
WDR60	55112	broad.mit.edu	37	7	158718989	158718989	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr7:158718989A>T	ENST00000407559.3	+	18	2527	c.2369A>T	c.(2368-2370)gAa>gTa	p.E790V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	790					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTACTCAAGAAGGTACGTGA	0.388																																						uc003woe.3		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2368-2370)GAA>GTA		WD repeat domain 60							58.0	55.0	56.0					7																	158718989		1871	4120	5991	SO:0001583	missense	55112							g.chr7:158718989A>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2369A>T	7.37:g.158718989A>T	ENSP00000384290:p.Glu790Val					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.E422V	p.E790V	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	18	2527	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	790			WD 2.		Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2369A>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279430	0.23307	.	.	ENSG00000126870	ENST00000407559	T	0.79352	-1.26	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.115150	0.56097	D	0.000022	D	0.87783	0.6264	M	0.79805	2.47	0.51233	D	0.999916	D;D	0.76494	0.999;0.984	D;P	0.71184	0.972;0.796	D	0.89317	0.3637	10	0.87932	D	0	-24.7248	13.9517	0.64121	1.0:0.0:0.0:0.0	.	273;790	A4D230;Q8WVS4	.;WDR60_HUMAN	V	790	ENSP00000384290:E790V	ENSP00000384290:E790V	E	+	2	0	WDR60	158411750	1.000000	0.71417	0.993000	0.49108	0.082000	0.17680	5.990000	0.70595	2.232000	0.73038	0.533000	0.62120	GAA		0.388	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		6	12	0	0	0	0	6	12				
CSMD1	64478	broad.mit.edu	37	8	2820916	2820916	+	Splice_Site	SNP	G	G	T	rs201394470		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820916G>T	ENST00000520002.1	-	61	9840	c.9285C>A	c.(9283-9285)gcC>gcA	p.A3095A	CSMD1_ENST00000400186.3_Splice_Site_p.A2918A|CSMD1_ENST00000542608.1_Splice_Site_p.A2917A|CSMD1_ENST00000602557.1_Splice_Site_p.A3095A|CSMD1_ENST00000602723.1_Splice_Site_p.A2918A|CSMD1_ENST00000537824.1_Splice_Site_p.A3094A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3095	Sushi 24. {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)		GACACAGCACGGCTATTTCCA	0.498																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9283-9285)GCC>GCA		CUB and Sushi multiple domains 1 precursor							119.0	123.0	122.0					8																	2820916		1900	4129	6029	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2820916G>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.9284-1C>A	8.37:g.2820916G>T						CSMD1_uc011kwj.1_Silent_p.A2424A|CSMD1_uc010lrg.2_Silent_p.A986A	p.A3095A	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)	60	9675	-		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)	3095			Extracellular (Potential).|Sushi 24.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9285C>A		.	.	.	.	.	.	.	.	.	.	G	1.910	-0.450917	0.04572	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.03	-2.7	0.06004	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41805	-0.9488	4	.	.	.	.	6.4469	0.21882	0.4699:0.3151:0.215:0.0	.	.	.	.	S	2512	.	.	R	-	1	0	CSMD1	2808323	0.996000	0.38824	0.960000	0.40013	0.166000	0.22503	0.523000	0.22925	-0.716000	0.04962	-0.140000	0.14226	CGT		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Silent	51	101	1	0	6.57e-35	9.57e-35	51	101				
SOX7	83595	broad.mit.edu	37	8	10583781	10583781	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:10583781C>A	ENST00000304501.1	-	2	712	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOX7_ENST00000554914.1_Missense_Mutation_p.V264L|SOX7_ENST00000553390.1_Missense_Mutation_p.V264L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	212					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCTCCAGCACGTCCAGGGGA	0.701																																						uc003wtf.2		NA																	0				breast(1)	1						c.(634-636)GTG>TTG		SRY-box 7							29.0	36.0	34.0					8																	10583781		2203	4299	6502	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583781C>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.634G>T	8.37:g.10583781C>A	ENSP00000301921:p.Val212Leu					SOX7_uc011kwz.1_Missense_Mutation_p.V264L	p.V212L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	713	-			212					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.634G>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310641	0.40895	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76968	-1.06;-1.06;-1.06	4.42	3.55	0.40652	.	0.191231	0.44097	D	0.000500	T	0.65450	0.2692	L	0.34521	1.04	0.26186	N	0.979651	B;B	0.32918	0.39;0.308	B;B	0.33254	0.154;0.16	T	0.53535	-0.8425	10	0.21540	T	0.41	.	11.4943	0.50400	0.0:0.912:0.0:0.088	.	264;212	B4DKV0;Q9BT81	.;SOX7_HUMAN	L	212;264;264	ENSP00000301921:V212L;ENSP00000452017:V264L;ENSP00000451145:V264L	ENSP00000346908:V264L	V	-	1	0	SOX7;CTD-2135J3.4	10621191	0.906000	0.30813	0.915000	0.36163	0.988000	0.76386	5.840000	0.69402	1.068000	0.40764	0.561000	0.74099	GTG		0.701	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			17	25	1	0	7.08e-05	7.82e-05	17	25				
DLC1	10395	broad.mit.edu	37	8	12957730	12957730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:12957730C>T	ENST00000276297.4	-	9	2525	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	DLC1_ENST00000520226.1_Missense_Mutation_p.E195K|DLC1_ENST00000512044.2_Missense_Mutation_p.E303K|DLC1_ENST00000358919.2_Missense_Mutation_p.E269K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	706					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						TTCAGCTTCTCCTCATCCATC	0.567																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2116-2118)GAG>AAG		deleted in liver cancer 1 isoform 1							83.0	74.0	77.0					8																	12957730		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.chr8:12957730C>T	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.2116G>A	8.37:g.12957730C>T	ENSP00000276297:p.Glu706Lys					DLC1_uc003wwk.1_Missense_Mutation_p.E269K|DLC1_uc003wwl.1_Missense_Mutation_p.E303K|DLC1_uc011kxx.1_Missense_Mutation_p.E195K	p.E706K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2560	-			706					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2116G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169414	0.57584	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06142	3.58;3.35;3.34;3.34	4.84	3.96	0.45880	.	0.289606	0.37219	N	0.002187	T	0.06325	0.0163	L	0.33485	1.01	0.80722	D	1	P;B;B	0.34800	0.469;0.003;0.096	B;B;B	0.30646	0.118;0.005;0.033	T	0.38929	-0.9638	10	0.41790	T	0.15	.	15.5993	0.76611	0.0:0.8621:0.1379:0.0	.	706;303;269	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	K	706;269;303;195	ENSP00000276297:E706K;ENSP00000351797:E269K;ENSP00000422595:E303K;ENSP00000428028:E195K	ENSP00000276297:E706K	E	-	1	0	DLC1	13002101	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.738000	0.68613	1.391000	0.46566	0.655000	0.94253	GAG		0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		21	33	0	0	0	0	21	33				
UNC5D	137970	broad.mit.edu	37	8	35406851	35406851	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:35406851G>C	ENST00000404895.2	+	2	473	c.145G>C	c.(145-147)Gct>Cct	p.A49P	UNC5D_ENST00000287272.2_Missense_Mutation_p.A49P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A44P|UNC5D_ENST00000420357.1_Missense_Mutation_p.A49P|UNC5D_ENST00000416672.1_Missense_Mutation_p.A49P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	49					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATCCCATCAGCTCCTGGGAC	0.483																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(145-147)GCT>CCT		unc-5 homolog D precursor							67.0	64.0	65.0					8																	35406851		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406851G>C	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.145G>C	8.37:g.35406851G>C	ENSP00000385143:p.Ala49Pro					UNC5D_uc003xjs.1_Missense_Mutation_p.A44P	p.A49P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	473	+			49			Extracellular (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.145G>C	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112991	0.20795	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.97	5.1	0.69264	.	0.178453	0.48767	D	0.000172	T	0.34193	0.0889	M	0.77616	2.38	0.80722	D	1	P;B	0.35656	0.514;0.38	B;B	0.38880	0.284;0.147	T	0.11891	-1.0569	10	0.21014	T	0.42	-15.0085	15.1813	0.72960	0.0674:0.0:0.9326:0.0	.	44;49	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	P	49;49;49;49;44	ENSP00000385143:A49P;ENSP00000392739:A49P;ENSP00000287272:A49P;ENSP00000412652:A49P;ENSP00000394303:A44P	ENSP00000287272:A49P	A	+	1	0	UNC5D	35526393	1.000000	0.71417	0.971000	0.41717	0.099000	0.18886	6.669000	0.74462	1.542000	0.49330	-0.237000	0.12165	GCT		0.483	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			13	40	0	0	0	0	13	40				
KCNU1	157855	broad.mit.edu	37	8	36776389	36776389	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:36776389G>A	ENST00000399881.3	+	23	2607	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857					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)		TCAAACTGCCGAAAAGTCCCT	0.358																																						uc010lvw.2		NA																	0				ovary(1)	1						c.(2569-2571)CGA>CAA		potassium channel, subfamily U, member 1							120.0	112.0	114.0					8																	36776389		1835	4092	5927	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36776389G>A	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.2570G>A	8.37:g.36776389G>A	ENSP00000382770:p.Arg857Gln					KCNU1_uc003xjw.2_RNA	p.R857Q	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	23	2657	+			857			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.2570G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524388	0.13066	.	.	ENSG00000215262	ENST00000399881	T	0.41400	1.0	5.6	-0.441	0.12257	.	.	.	.	.	T	0.17066	0.0410	N	0.03115	-0.41	0.35949	D	0.833778	B	0.26002	0.139	B	0.12156	0.007	T	0.13926	-1.0491	9	0.29301	T	0.29	-0.8981	9.508	0.39060	0.6145:0.0:0.3855:0.0	.	857	A8MYU2	KCNU1_HUMAN	Q	857	ENSP00000382770:R857Q	ENSP00000382770:R857Q	R	+	2	0	KCNU1	36895547	0.248000	0.23930	0.027000	0.17364	0.003000	0.03518	0.356000	0.20181	-0.078000	0.12730	-0.794000	0.03295	CGA		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		17	84	0	0	0	0	17	84				
DDHD2	23259	broad.mit.edu	37	8	38095108	38095108	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:38095108C>G	ENST00000397166.2	+	4	989	c.464C>G	c.(463-465)tCt>tGt	p.S155C	DDHD2_ENST00000520272.2_Missense_Mutation_p.S155C	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	155					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AAACTGGAATCTCCCAACAGA	0.328																																						uc003xlb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(463-465)TCT>TGT		DDHD domain containing 2 isoform 1							53.0	53.0	53.0					8																	38095108		2200	4297	6497	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095108C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.464C>G	8.37:g.38095108C>G	ENSP00000380352:p.Ser155Cys					DDHD2_uc003xla.2_Missense_Mutation_p.S155C|DDHD2_uc003xlc.2_Missense_Mutation_p.S155C|DDHD2_uc011lbl.1_Missense_Mutation_p.I7M	p.S155C	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		4	841	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	155					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.464C>G	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.379291|4.379291	0.82682|0.82682	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000440212|ENST00000527834;ENST00000397166;ENST00000528358;ENST00000532222;ENST00000520272	.|T;T;T;T;T	.|0.33865	.|1.39;1.39;1.39;1.39;1.39	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.056846	.|0.64402	.|D	.|0.000001	T|T	0.51719|0.51719	0.1691|0.1691	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|D;D	0.19445|0.76494	0.036|0.98;0.999	B|P;D	0.23018|0.65573	0.043|0.775;0.936	T|T	0.43376|0.43376	-0.9395|-0.9395	8|10	0.32370|0.40728	T|T	0.25|0.16	-18.5589|-18.5589	18.2067|18.2067	0.89857|0.89857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	7|155;155	B4DSR3|O94830;E9PKE6	.|DDHD2_HUMAN;.	M|C	7|155;155;153;155;155	.|ENSP00000432433:S155C;ENSP00000380352:S155C;ENSP00000433118:S153C;ENSP00000433578:S155C;ENSP00000429932:S155C	ENSP00000408569:I7M|ENSP00000380352:S155C	I|S	+|+	3|2	3|0	DDHD2|DDHD2	38214265|38214265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.100000|4.100000	0.57762|0.57762	2.604000|2.604000	0.88044|0.88044	0.558000|0.558000	0.71614|0.71614	ATC|TCT		0.328	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		7	14	0	0	0	0	7	14				
PXDNL	137902	broad.mit.edu	37	8	52287228	52287228	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:52287228A>G	ENST00000356297.4	-	18	3721	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	PXDNL_ENST00000543296.1_Silent_p.P1207P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1207					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCTTGTACCAGGAATCAGGT	0.483																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3619-3621)CCT>CCC		peroxidasin homolog-like precursor							79.0	79.0	79.0					8																	52287228		1974	4155	6129	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52287228A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3621T>C	8.37:g.52287228A>G						PXDNL_uc003xqt.3_RNA	p.P1207P	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			18	3722	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1207					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3621T>C	CCDS47855.1																																																																																				0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	39	0	0	0	0	12	39				
EYA1	2138	broad.mit.edu	37	8	72182001	72182001	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72182001C>A	ENST00000340726.3	-	11	1663	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	EYA1_ENST00000419131.1_Missense_Mutation_p.G337W|EYA1_ENST00000388740.3_Missense_Mutation_p.G309W|EYA1_ENST00000388741.2_Missense_Mutation_p.G308W|EYA1_ENST00000388743.2_Missense_Mutation_p.G341W|EYA1_ENST00000303824.7_Missense_Mutation_p.G336W|EYA1_ENST00000388742.4_Missense_Mutation_p.G342W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	342					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCGTAGGACCCAGTAAGCAAG	0.398																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(1024-1026)GGG>TGG		eyes absent 1 isoform b							165.0	149.0	155.0					8																	72182001		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72182001C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1024G>T	8.37:g.72182001C>A	ENSP00000342626:p.Gly342Trp					EYA1_uc003xyr.3_Missense_Mutation_p.G337W|EYA1_uc003xyt.3_Missense_Mutation_p.G309W|EYA1_uc010lzf.2_Missense_Mutation_p.G269W|EYA1_uc003xyu.2_Missense_Mutation_p.G342W|EYA1_uc011lfe.1_Missense_Mutation_p.G336W|EYA1_uc003xyv.2_Missense_Mutation_p.G220W	p.G342W	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1311	-	Breast(64;0.046)		342					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1024G>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806826	0.90623	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.81341	2.54	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;1.0;0.999;1.0;0.999	D	0.92189	0.5758	10	0.87932	D	0	-10.6276	20.1802	0.98196	0.0:1.0:0.0:0.0	.	336;269;309;342;337	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	W	342;342;310;309;336;308;341;337	ENSP00000373394:G342W;ENSP00000342626:G342W;ENSP00000373392:G309W;ENSP00000303221:G336W;ENSP00000373393:G308W;ENSP00000373395:G341W;ENSP00000410176:G337W	ENSP00000303221:G336W	G	-	1	0	EYA1	72344555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.777000	0.95525	0.655000	0.94253	GGG		0.398	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		33	91	1	0	6.29e-14	8.36e-14	33	91				
EYA1	2138	broad.mit.edu	37	8	72229917	72229917	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72229917C>G	ENST00000340726.3	-	7	1065	c.426G>C	c.(424-426)ttG>ttC	p.L142F	EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.L109F|EYA1_ENST00000388741.2_Missense_Mutation_p.L108F|EYA1_ENST00000388743.2_Missense_Mutation_p.L141F|EYA1_ENST00000303824.7_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.L142F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	142					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCTGCCCACAATGCACCTA	0.423																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(424-426)TTG>TTC		eyes absent 1 isoform b							247.0	223.0	231.0					8																	72229917		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72229917C>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.426G>C	8.37:g.72229917C>G	ENSP00000342626:p.Leu142Phe					EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.L109F|EYA1_uc010lzf.2_Missense_Mutation_p.L69F|EYA1_uc003xyu.2_Missense_Mutation_p.L142F|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron	p.L142F	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		6	713	-	Breast(64;0.046)		142					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.426G>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925558	0.92319	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000388741;ENST00000388743	D;D;D;D;D	0.93426	-2.9;-2.9;-3.22;-3.22;-2.9	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000102	D	0.94218	0.8144	N	0.19112	0.55	0.58432	D	0.999997	P;P;D	0.69078	0.696;0.696;0.997	P;P;D	0.78314	0.541;0.541;0.991	D	0.94932	0.8083	10	0.66056	D	0.02	-7.7114	20.1162	0.97934	0.0:1.0:0.0:0.0	.	69;109;142	Q0P517;Q99502-2;Q99502	.;.;EYA1_HUMAN	F	142;142;110;109;108;141	ENSP00000373394:L142F;ENSP00000342626:L142F;ENSP00000373392:L109F;ENSP00000373393:L108F;ENSP00000373395:L141F	ENSP00000342626:L142F	L	-	3	2	EYA1	72392471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.756000	0.94617	0.655000	0.94253	TTG		0.423	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		37	96	0	0	0	0	37	96				
MSC	9242	broad.mit.edu	37	8	72756070	72756070	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72756070C>T	ENST00000325509.4	-	1	633	c.344G>A	c.(343-345)cGt>cAt	p.R115H	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	115	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCACGCTCACGGGCGTTGGC	0.692											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyx.1		NA																	0					0						c.(343-345)CGT>CAT		musculin							21.0	22.0	22.0					8																	72756070		2201	4299	6500	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756070C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.344G>A	8.37:g.72756070C>T	ENSP00000321445:p.Arg115His		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	uc011lff.1_Intron|uc003xyy.2_5'Flank	p.R115H	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	662	-	Breast(64;0.176)		115			Basic motif.		O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.344G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127630	0.94473	.	.	ENSG00000178860	ENST00000325509	D	0.98362	-4.89	4.87	3.93	0.45458	Helix-loop-helix DNA-binding (5);	0.049159	0.85682	D	0.000000	D	0.99211	0.9726	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.98664	1.0685	10	0.87932	D	0	.	14.5491	0.68054	0.0:0.853:0.147:0.0	.	115	O60682	MUSC_HUMAN	H	115	ENSP00000321445:R115H	ENSP00000321445:R115H	R	-	2	0	MSC	72918624	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.630000	0.61297	2.258000	0.74832	0.555000	0.69702	CGT		0.692	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		6	17	0	0	0	0	6	17				
TRPA1	8989	broad.mit.edu	37	8	72951141	72951141	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:72951141T>A	ENST00000262209.4	-	19	2461	c.2254A>T	c.(2254-2256)Atc>Ttc	p.I752F	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	752					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTCATTGATGATGCCAGTT	0.299																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2254-2256)ATC>TTC		ankyrin-like protein 1	Menthol(DB00825)						98.0	94.0	95.0					8																	72951141		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72951141T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2254A>T	8.37:g.72951141T>A	ENSP00000262209:p.Ile752Phe					uc011lff.1_Intron|uc003xyy.2_Intron	p.I752F	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		19	2429	-			752			Extracellular (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2254A>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284501	0.23392	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.79352	-1.26;-1.26	5.14	2.51	0.30379	.	0.382883	0.29192	N	0.012880	T	0.56920	0.2018	N	0.25647	0.755	0.48762	D	0.999708	B	0.10296	0.003	B	0.06405	0.002	T	0.39078	-0.9631	10	0.08837	T	0.75	-15.0981	5.1139	0.14823	0.3354:0.0:0.1539:0.5107	.	752	O75762	TRPA1_HUMAN	F	604;752	ENSP00000428151:I604F;ENSP00000262209:I752F	ENSP00000262209:I752F	I	-	1	0	TRPA1	73113695	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.107000	0.41844	0.865000	0.35603	0.528000	0.53228	ATC		0.299	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		26	46	0	0	0	0	26	46				
TPD52	7163	broad.mit.edu	37	8	80976829	80976829	+	Splice_Site	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:80976829C>A	ENST00000379097.3	-	2	502		c.e2-1		TPD52_ENST00000519303.2_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000537855.1_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000379096.5_Splice_Site|TPD52_ENST00000517427.1_Splice_Site	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCAGACCTGGTTGGGGA	0.463																																						uc003ybr.1		NA																	0				ovary(1)	1						c.e2-1		tumor protein D52 isoform 1							125.0	117.0	120.0					8																	80976829		2203	4300	6503	SO:0001630	splice_region_variant	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976829C>A	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.140-1G>T	8.37:g.80976829C>A						TPD52_uc010lzr.2_Splice_Site|TPD52_uc010lzs.1_Splice_Site|TPD52_uc003ybs.1_Splice_Site_p.G7_splice|TPD52_uc003ybt.1_Splice_Site_p.G7_splice|TPD52_uc003ybq.1_Splice_Site|TPD52_uc003ybu.1_Splice_Site	p.G47_splice	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	462	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)						B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Splice_Site	SNP	ENST00000379097.3	37	c.140_splice	CCDS34912.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.89|16.89	3.248026|3.248026	0.59103|0.59103	.|.	.|.	ENSG00000076554|ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000520795|ENST00000425513	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71904	.|0.3395	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70630	.|-0.4819	.|4	.|.	.|.	.|.	.|.	16.1575|16.1575	0.81676|0.81676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|C	-1|7	.|.	.|.	.|G	-|-	.|1	.|0	TPD52|TPD52	81139384|81139384	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.957000|0.957000	0.61999|0.61999	4.270000|4.270000	0.58896|0.58896	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	.|GGT		0.463	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079	Intron	40	81	1	0	8.69e-16	1.18e-15	40	81				
VPS13B	157680	broad.mit.edu	37	8	100523713	100523713	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:100523713A>T	ENST00000358544.2	+	29	4792	c.4681A>T	c.(4681-4683)Aca>Tca	p.T1561S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T1536S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1561					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTCCAAAAACAGAAGAAAT	0.343																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4681-4683)ACA>TCA		vacuolar protein sorting 13B isoform 5							29.0	30.0	30.0					8																	100523713		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523713A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4681A>T	8.37:g.100523713A>T	ENSP00000351346:p.Thr1561Ser					VPS13B_uc003yiw.2_Missense_Mutation_p.T1536S|VPS13B_uc003yix.1_Missense_Mutation_p.T1031S	p.T1561S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4792	+	Breast(36;3.73e-07)		1561					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4681A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	5.921	0.353953	0.11182	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66995	-0.24;-0.23	5.48	1.67	0.24075	.	0.445735	0.22534	N	0.058809	T	0.39306	0.1073	N	0.16368	0.405	0.80722	D	1	B;B;B	0.12630	0.002;0.006;0.003	B;B;B	0.13407	0.003;0.009;0.004	T	0.17167	-1.0378	10	0.06236	T	0.91	.	4.8968	0.13755	0.6599:0.0:0.2106:0.1294	.	1560;1536;1561	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	S	1536;1561	ENSP00000349685:T1536S;ENSP00000351346:T1561S	ENSP00000349685:T1536S	T	+	1	0	VPS13B	100592889	0.988000	0.35896	0.993000	0.49108	0.977000	0.68977	1.738000	0.38207	0.422000	0.26005	0.477000	0.44152	ACA		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		13	25	0	0	0	0	13	25				
RIMS2	9699	broad.mit.edu	37	8	104898351	104898351	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104898351C>T	ENST00000436393.2	+	2	1099	c.858C>T	c.(856-858)cgC>cgT	p.R286R	RIMS2_ENST00000507740.1_Silent_p.R316R|RIMS2_ENST00000406091.3_Silent_p.R508R|RIMS2_ENST00000262231.10_Silent_p.R316R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	539					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)			GTAAAATGCGCCAGATTTCGT	0.423										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.(856-858)CGC>CGT		regulating synaptic membrane exocytosis 2							62.0	59.0	60.0					8																	104898351		2022	4156	6178	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898351C>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.858C>T	8.37:g.104898351C>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.R508R|RIMS2_uc003ylw.2_Silent_p.R316R|RIMS2_uc003ylq.2_Silent_p.R316R|RIMS2_uc003ylr.2_Silent_p.R316R	p.R286R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1099	+			539					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.858C>T																																																																																					0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		13	24	0	0	0	0	13	24				
RIMS2	9699	broad.mit.edu	37	8	104922385	104922385	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:104922385G>C	ENST00000436393.2	+	3	1223	c.982G>C	c.(982-984)Gat>Cat	p.D328H	RIMS2_ENST00000507740.1_Missense_Mutation_p.D358H|RIMS2_ENST00000406091.3_Missense_Mutation_p.D550H|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	617					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)			CAACTGGTTGGATCATACGTC	0.393										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.(982-984)GAT>CAT		regulating synaptic membrane exocytosis 2							189.0	182.0	184.0					8																	104922385		1917	4125	6042	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922385G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.982G>C	8.37:g.104922385G>C	ENSP00000390665:p.Asp328His	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.D550H|RIMS2_uc003ylw.2_Missense_Mutation_p.D358H|RIMS2_uc003ylq.2_Missense_Mutation_p.D358H|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	p.D328H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1223	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.982G>C		.	.	.	.	.	.	.	.	.	.	G	19.11	3.764317	0.69878	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000515551;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.29917	1.55;2.03;1.72;1.7;1.7;2.07	5.24	5.24	0.73138	.	.	.	.	.	T	0.41834	0.1176	N	0.22421	0.69	0.80722	D	1	P;D;P	0.62365	0.93;0.991;0.616	P;P;P	0.62435	0.681;0.902;0.495	T	0.39901	-0.9591	9	0.72032	D	0.01	.	19.1853	0.93641	0.0:0.0:1.0:0.0	.	328;358;550	D6RA03;Q9UQ26-3;F8WD47	.;.;.	H	550;581;550;358;358;358;328	ENSP00000427018:D550H;ENSP00000384892:D550H;ENSP00000425205:D358H;ENSP00000423559:D358H;ENSP00000386228:D358H;ENSP00000390665:D328H	ENSP00000332184:D581H	D	+	1	0	RIMS2	104991561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.890000	0.87313	2.610000	0.88304	0.650000	0.86243	GAT		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		32	91	0	0	0	0	32	91				
PKHD1L1	93035	broad.mit.edu	37	8	110455181	110455181	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:110455181T>A	ENST00000378402.5	+	36	4504	c.4400T>A	c.(4399-4401)tTt>tAt	p.F1467Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1467	IPT/TIG 7.				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)			GCAGGTTCATTTTCTTACCAA	0.318										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4399-4401)TTT>TAT		fibrocystin L precursor							83.0	84.0	83.0					8																	110455181		1824	4080	5904	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455181T>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.4400T>A	8.37:g.110455181T>A	ENSP00000367655:p.Phe1467Tyr	HNSCC(38;0.096)					p.F1467Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4504	+			1467			Extracellular (Potential).|IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4400T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797849	0.90538	.	.	ENSG00000205038	ENST00000378402	D	0.88201	-2.35	6.16	6.16	0.99307	Cupredoxin (1);	0.059780	0.64402	D	0.000002	D	0.87047	0.6080	L	0.56280	1.765	0.34735	D	0.730145	P	0.41929	0.765	B	0.41299	0.353	D	0.89664	0.3879	10	0.30078	T	0.28	.	14.7581	0.69583	0.0:0.0:0.0:1.0	.	1467	Q86WI1	PKHL1_HUMAN	Y	1467	ENSP00000367655:F1467Y	ENSP00000367655:F1467Y	F	+	2	0	PKHD1L1	110524357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.446000	0.66600	2.367000	0.80283	0.528000	0.53228	TTT		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		21	36	0	0	0	0	21	36				
CSMD3	114788	broad.mit.edu	37	8	113267587	113267587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113267587G>T	ENST00000297405.5	-	62	10176	c.9932C>A	c.(9931-9933)tCa>tAa	p.S3311*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3142*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3241*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3271*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3311	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAACCTCTGACTGGTATAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9931-9933)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							133.0	119.0	124.0					8																	113267587		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113267587G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9932C>A	8.37:g.113267587G>T	ENSP00000297405:p.Ser3311*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.S2513*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3271*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3142*	p.S3311*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			62	10091	-			3311			Extracellular (Potential).|Sushi 26.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9932C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	52	18.896767	0.99912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9256	0.92541	0.0:0.0:1.0:0.0	.	.	.	.	X	3271;3311;2581;3142;3241	.	ENSP00000297405:S3311X	S	-	2	0	CSMD3	113336763	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	9.565000	0.98154	2.707000	0.92482	0.650000	0.86243	TCA		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	50	1	0	1.43e-11	1.84e-11	27	50				
CSMD3	114788	broad.mit.edu	37	8	113668416	113668416	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:113668416G>T	ENST00000297405.5	-	18	3215	c.2971C>A	c.(2971-2973)Cgt>Agt	p.R991S	CSMD3_ENST00000455883.2_Missense_Mutation_p.R887S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R991S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R951S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	991	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTGGAACGACTGTTGTCT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2971-2973)CGT>AGT		CUB and Sushi multiple domains 3 isoform 1							64.0	70.0	68.0					8																	113668416		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113668416G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2971C>A	8.37:g.113668416G>T	ENSP00000297405:p.Arg991Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R263S|CSMD3_uc003ynt.2_Missense_Mutation_p.R951S|CSMD3_uc011lhx.1_Missense_Mutation_p.R887S	p.R991S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3130	-			991			Extracellular (Potential).|CUB 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2971C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221109	0.22457	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.28	4.39	0.52855	CUB (5);	0.000000	0.64402	D	0.000003	T	0.63977	0.2557	L	0.31294	0.92	0.33809	D	0.627586	D;D;D	0.76494	0.999;0.999;0.987	D;D;D	0.91635	0.998;0.999;0.954	T	0.68093	-0.5500	10	0.19147	T	0.46	.	16.1847	0.81942	0.0:0.1337:0.8663:0.0	.	887;991;951	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	951;991;331;887;991	ENSP00000345799:R951S;ENSP00000297405:R991S;ENSP00000341558:R331S;ENSP00000412263:R887S;ENSP00000343124:R991S	ENSP00000297405:R991S	R	-	1	0	CSMD3	113737592	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	9.813000	0.99286	1.337000	0.45525	-0.312000	0.09012	CGT		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	70	1	0	4.78e-09	5.87e-09	26	70				
AARD	441376	broad.mit.edu	37	8	117954796	117954796	+	Splice_Site	SNP	G	G	A	rs77850379		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:117954796G>A	ENST00000378279.3	+	2	369		c.e2-1		AARD_ENST00000523536.1_Splice_Site	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein						lung development (GO:0030324)												CTAACTTTTAGGTGGAAATGC	0.343																																						uc003yof.2		NA																	0					0						c.e2-1		alanine and arginine-rich domain-containing							30.0	29.0	29.0					8																	117954796		2203	4300	6503	SO:0001630	splice_region_variant	441376							g.chr8:117954796G>A	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.325-1G>A	8.37:g.117954796G>A							p.V109_splice	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN			2	344	+								A5PKU8	Splice_Site	SNP	ENST00000378279.3	37	c.325_splice	CCDS34935.1	.	.	.	.	.	.	.	.	.	.	G	2.445	-0.327796	0.05314	.	.	ENSG00000205002	ENST00000378279	.	.	.	5.38	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1493	0.15002	0.0789:0.1433:0.6296:0.1483	.	.	.	.	.	-1	.	.	.	+	.	.	C8orf85	118023977	1.000000	0.71417	0.993000	0.49108	0.005000	0.04900	3.521000	0.53472	0.806000	0.34183	-0.122000	0.15005	.		0.343	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357	Intron	8	16	0	0	0	0	8	16				
FER1L6	654463	broad.mit.edu	37	8	124978246	124978246	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:124978246G>A	ENST00000522917.1	+	4	403		c.e4-1		FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)		p.?(1)		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)			TCTTTTAATAGATCAAAACTG	0.358																																						uc003yqw.2		NA																	1	Unknown(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.e4-1		fer-1-like 6							49.0	49.0	49.0					8																	124978246		1889	4107	5996	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:124978246G>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.198-1G>A	8.37:g.124978246G>A							p.R66_splice	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		4	404	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37	c.198_splice	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544583	0.27563	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5511	0.87875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125047427	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	7.948000	0.87774	2.656000	0.90262	0.563000	0.77884	.		0.358	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	6	21	0	0	0	0	6	21				
KCNQ3	3786	broad.mit.edu	37	8	133175730	133175730	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:133175730A>T	ENST00000388996.4	-	9	1667	c.1247T>A	c.(1246-1248)cTg>cAg	p.L416Q	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L296Q|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L416Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	416					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCTGCCTCCAGCTGTTCTTT	0.443																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1246-1248)CTG>CAG		potassium voltage-gated channel KQT-like protein							98.0	97.0	97.0					8																	133175730		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133175730A>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1247T>A	8.37:g.133175730A>T	ENSP00000373648:p.Leu416Gln					KCNQ3_uc010mdt.2_Missense_Mutation_p.L416Q	p.L416Q	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		9	1472	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		416					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1247T>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487676	0.26686	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99060	-5.35;-5.33;-5.38	4.57	4.57	0.56435	.	0.667216	0.13549	N	0.379635	D	0.95799	0.8633	N	0.14661	0.345	0.36085	D	0.843038	B;B	0.17465	0.022;0.012	B;B	0.12837	0.008;0.004	D	0.95217	0.8330	10	0.28530	T	0.3	-0.3899	10.897	0.47029	1.0:0.0:0.0:0.0	.	416;416	E7ET42;O43525	.;KCNQ3_HUMAN	Q	416;296;416;405;295	ENSP00000373648:L416Q;ENSP00000429799:L296Q;ENSP00000428790:L416Q	ENSP00000373648:L416Q	L	-	2	0	KCNQ3	133244912	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.110000	0.57831	2.014000	0.59158	0.533000	0.62120	CTG		0.443	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		22	48	0	0	0	0	22	48				
FAM135B	51059	broad.mit.edu	37	8	139263091	139263091	+	Silent	SNP	A	A	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139263091A>G	ENST00000395297.1	-	6	705	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	179										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)			TACCTGATCAATGGCTGCTGC	0.562										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(535-537)TTG>CTG		hypothetical protein LOC51059							59.0	65.0	63.0					8																	139263091		2033	4194	6227	SO:0001819	synonymous_variant	51059							g.chr8:139263091A>G	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.535T>C	8.37:g.139263091A>G		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L80L|FAM135B_uc003yuz.2_RNA	p.L179L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	706	-	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)		179					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.535T>C	CCDS6375.2																																																																																				0.562	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		30	50	0	0	0	0	30	50				
COL22A1	169044	broad.mit.edu	37	8	139833498	139833498	+	Missense_Mutation	SNP	C	C	A	rs187494226	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:139833498C>A	ENST00000303045.6	-	7	1572	c.1126G>T	c.(1126-1128)Gtc>Ttc	p.V376F	COL22A1_ENST00000435777.1_Missense_Mutation_p.V376F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	376	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCAGGGAGACGTTCTGGGCC	0.562										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1126-1128)GTC>TTC		collagen, type XXII, alpha 1							186.0	141.0	156.0					8																	139833498		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833498C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1126G>T	8.37:g.139833498C>A	ENSP00000303153:p.Val376Phe	HNSCC(7;0.00092)					p.V376F	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1573	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		376			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1126G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413363	0.83449	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.03004	4.08;4.08	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.306792	0.22811	N	0.055342	T	0.14141	0.0342	M	0.79011	2.435	0.54753	D	0.999988	D	0.56287	0.975	P	0.53185	0.72	T	0.00451	-1.1731	9	.	.	.	.	18.1827	0.89783	0.0:1.0:0.0:0.0	.	376	Q8NFW1	COMA1_HUMAN	F	376	ENSP00000303153:V376F;ENSP00000387655:V376F	.	V	-	1	0	COL22A1	139902680	1.000000	0.71417	0.778000	0.31720	0.880000	0.50808	5.788000	0.69020	2.616000	0.88540	0.558000	0.71614	GTC		0.562	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	45	1	0	4.97e-08	5.97e-08	21	45				
FAM214B	80256	broad.mit.edu	37	9	35107838	35107838	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:35107838C>T	ENST00000378561.1	-	2	3489	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	FAM214B_ENST00000603301.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000488109.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Missense_Mutation_p.C145Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378557.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378554.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000378566.1_Intron			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	145						nucleus (GO:0005634)											TGATGGGGGGCAGGGGGGACT	0.627																																						uc003zwl.2		NA																	0				ovary(2)	2						c.(433-435)TGC>TAC		hypothetical protein LOC80256							35.0	43.0	40.0					9																	35107838		2202	4296	6498	SO:0001583	missense	80256					nucleus		g.chr9:35107838C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.434G>A	9.37:g.35107838C>T	ENSP00000367823:p.Cys145Tyr					KIAA1539_uc003zwm.2_Missense_Mutation_p.C145Y|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.C145Y|KIAA1539_uc003zwp.1_Missense_Mutation_p.C145Y|KIAA1539_uc010mkk.1_Intron	p.C145Y	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	759	-	all_epithelial(49;0.217)		145					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.434G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.540011	0.04053	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.63	3.72	0.42706	.	0.619147	0.15461	N	0.261104	T	0.23451	0.0567	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.17018	-1.0383	9	0.54805	T	0.06	-2.9006	9.1786	0.37127	0.3006:0.5684:0.1311:0.0	.	145	Q7L5A3	K1539_HUMAN	Y	145	.	ENSP00000319897:C145Y	C	-	2	0	KIAA1539	35097838	0.161000	0.22892	0.228000	0.23943	0.434000	0.31775	1.096000	0.30976	1.164000	0.42652	0.555000	0.69702	TGC		0.627	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		31	57	0	0	0	0	31	57				
RUSC2	9853	broad.mit.edu	37	9	35556330	35556330	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:35556330G>A	ENST00000455600.1	+	5	3437	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	956						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CGTTACCACTGACCTGCCCTG	0.542																																						uc003zww.2		NA																	0				ovary(1)	1						c.(2866-2868)CTG>CTA		RUN and SH3 domain containing 2							91.0	90.0	91.0					9																	35556330		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35556330G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2868G>A	9.37:g.35556330G>A						RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.L956L	p.L956L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		5	3123	+			956					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.2868G>A	CCDS35008.1																																																																																				0.542	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		27	48	0	0	0	0	27	48				
SPATA31A6	389730	broad.mit.edu	37	9	43625328	43625328	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:43625328C>A	ENST00000332857.6	-	4	3387	c.3359G>T	c.(3358-3360)aGg>aTg	p.R1120M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1120					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTTCAAGCCTTTCTTCATG	0.473																																						uc011lrb.1		NA																	0					0						c.(3358-3360)AGG>ATG		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43625328		385	994	1379	SO:0001583	missense	389730					integral to membrane		g.chr9:43625328C>A		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.3359G>T	9.37:g.43625328C>A	ENSP00000329825:p.Arg1120Met						p.R1120M	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3388	-			1120						Missense_Mutation	SNP	ENST00000332857.6	37	c.3359G>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143933	0.06627	.	.	ENSG00000185775	ENST00000332857	T	0.04406	3.63	1.79	-1.11	0.09840	.	2.856530	0.01120	N	0.005778	T	0.04679	0.0127	N	0.25647	0.755	0.09310	N	1	B	0.26363	0.147	B	0.28232	0.087	T	0.38585	-0.9654	10	0.42905	T	0.14	.	4.7469	0.13042	0.0:0.4895:0.0:0.5105	.	1120	Q5VVP1	F75A6_HUMAN	M	1120	ENSP00000329825:R1120M	ENSP00000329825:R1120M	R	-	2	0	FAM75A6	43565324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.405000	0.07196	-0.296000	0.08947	0.383000	0.25322	AGG		0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		50	106	1	0	2.92e-43	4.28e-43	50	106				
SPATA31E1	286234	broad.mit.edu	37	9	90502039	90502039	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:90502039C>T	ENST00000325643.5	+	4	2703	c.2637C>T	c.(2635-2637)gcC>gcT	p.A879A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	879					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCCCTGGGCCTCCTGGGTAT	0.557																																						uc004app.3		NA																	0				ovary(3)	3						c.(2635-2637)GCC>GCT		chromosome 9 open reading frame 79							41.0	39.0	40.0					9																	90502039		2203	4299	6502	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90502039C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2637C>T	9.37:g.90502039C>T						C9orf79_uc004apo.1_Silent_p.A691A	p.A879A	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2672	+			879					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2637C>T	CCDS6676.1																																																																																				0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		15	21	0	0	0	0	15	21				
NUTM2G	441457	broad.mit.edu	37	9	99694506	99694506	+	Silent	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:99694506G>A	ENST00000372322.3	+	2	540	c.519G>A	c.(517-519)ggG>ggA	p.G173G	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Silent_p.G173G	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	173																	TGTCCCCAGGGAACGCTGGGC	0.682																																						uc004awq.1		NA																	0				skin(1)	1						c.(517-519)GGG>GGA		hypothetical protein LOC441457							71.0	74.0	73.0					9																	99694506		1951	4118	6069	SO:0001819	synonymous_variant	441457							g.chr9:99694506G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.519G>A	9.37:g.99694506G>A							p.G173G	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			2	1234	+		Acute lymphoblastic leukemia(62;0.0527)	173					A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	c.519G>A	CCDS55329.1																																																																																				0.682	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		26	126	0	0	0	0	26	126				
COL15A1	1306	broad.mit.edu	37	9	101778282	101778282	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:101778282G>T	ENST00000375001.3	+	11	1951	c.1528G>T	c.(1528-1530)Gca>Tca	p.A510S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	510	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAAGACTTGGCAGCAGCCAC	0.597																																						uc004azb.1		NA																	0				ovary(6)	6						c.(1528-1530)GCA>TCA		alpha 1 type XV collagen precursor							46.0	46.0	46.0					9																	101778282		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101778282G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1528G>T	9.37:g.101778282G>T	ENSP00000364140:p.Ala510Ser						p.A510S	NM_001855	NP_001846	P39059	COFA1_HUMAN			11	1734	+		Acute lymphoblastic leukemia(62;0.0562)	510			Nonhelical region 1 (NC1).|4.|4 X tandem repeats.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1528G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	5.854	0.341714	0.11069	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89681	-2.55	3.93	-0.39	0.12450	.	3.804810	0.00859	N	0.001916	D	0.84088	0.5395	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.64757	-0.6332	10	0.46703	T	0.11	-0.8533	2.9993	0.06009	0.2271:0.0:0.3432:0.4297	.	510	P39059	COFA1_HUMAN	S	510;480	ENSP00000364140:A510S	ENSP00000364140:A510S	A	+	1	0	COL15A1	100818103	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.616000	0.24344	0.049000	0.15920	-0.188000	0.12872	GCA		0.597	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		9	21	1	0	4.69e-08	5.65e-08	9	21				
MSANTD3	91283	broad.mit.edu	37	9	103204596	103204596	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:103204596C>A	ENST00000395067.2	+	2	647	c.376C>A	c.(376-378)Ccg>Acg	p.P126T	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3_ENST00000374885.1_Missense_Mutation_p.P126T|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.P15H|TMEFF1_ENST00000334943.6_Missense_Mutation_p.P13T	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	126										endometrium(2)|lung(2)	4						GCAGAGCCCCCCGGAGGAGGA	0.587																																						uc004bay.1		NA																	0					0						c.(376-378)CCG>ACG		transmembrane protein with EGF-like and two							43.0	45.0	45.0					9																	103204596		2203	4300	6503	SO:0001583	missense	8577				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103204596C>A	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.376C>A	9.37:g.103204596C>A	ENSP00000378506:p.Pro126Thr					C9orf30_uc004baw.2_Missense_Mutation_p.P126T|C9orf30_uc004bax.2_RNA	p.P126T	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN			1	409	+		Acute lymphoblastic leukemia(62;0.0452)	Error:Variant_position_missing_in_Q8IYR6_after_alignment					B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.376C>A	CCDS6749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261762|4.261762	0.80358|0.80358	.|.	.|.	ENSG00000251349|ENSG00000066697;ENSG00000066697;ENSG00000066697;ENSG00000066697;ENSG00000241697	ENST00000502978|ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886;ENST00000334943	T|T	0.62941|0.71817	-0.01|-0.6	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	T|T	0.75838|0.75838	0.3904|0.3904	L|L	0.29908|0.29908	0.895|0.895	0.29311|0.29311	N|N	0.867997|0.867997	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.78314	.|0.991;0.981	T|T	0.65907|0.65907	-0.6054|-0.6054	7|9	0.72032|0.10111	D|T	0.01|0.7	-2.3523|-2.3523	19.3129|19.3129	0.94198|0.94198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|13;126	.|Q8IYR6-2;Q96H12	.|.;CI030_HUMAN	H|T	15|126;126;126;126;13	ENSP00000424768:P15H|ENSP00000334447:P13T	ENSP00000424768:P15H|ENSP00000364020:P126T	P|P	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1;C9orf30	102244417|102244417	0.981000|0.981000	0.34729|0.34729	0.271000|0.271000	0.24616|0.24616	0.952000|0.952000	0.60782|0.60782	5.314000|5.314000	0.65804|0.65804	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.587	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		15	36	1	0	5.01e-05	5.57e-05	15	36				
ZNF462	58499	broad.mit.edu	37	9	109691071	109691071	+	Silent	SNP	A	A	G	rs529223542		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:109691071A>G	ENST00000277225.5	+	3	5167	c.4878A>G	c.(4876-4878)gaA>gaG	p.E1626E	ZNF462_ENST00000457913.1_Silent_p.E1626E|ZNF462_ENST00000441147.2_Silent_p.E471E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1626					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGACCACTGAAGTGAGCCCTT	0.557																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(4876-4878)GAA>GAG		zinc finger protein 462							92.0	94.0	93.0					9																	109691071		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691071A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4878A>G	9.37:g.109691071A>G						ZNF462_uc010mto.2_Silent_p.E1474E|ZNF462_uc004bda.2_Silent_p.E1474E	p.E1626E	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	5167	+			1626					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.4878A>G	CCDS35096.1																																																																																				0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		23	62	0	0	0	0	23	62				
AKAP2	11217	broad.mit.edu	37	9	112898559	112898559	+	Silent	SNP	T	T	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112898559T>G	ENST00000259318.7	+	2	249	c.42T>G	c.(40-42)ccT>ccG	p.P14P	AKAP2_ENST00000434623.2_Silent_p.P103P|AKAP2_ENST00000555236.1_Silent_p.P245P|AKAP2_ENST00000510514.5_Silent_p.P245P|AKAP2_ENST00000374525.1_Silent_p.P103P|PALM2-AKAP2_ENST00000374530.3_Silent_p.P245P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P245P	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	14										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AAAGTGTTCCTGGAATCACCT	0.502																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1429-1431)CCT>CCG		A kinase (PRKA) anchor protein 2 isoform 2							167.0	156.0	160.0					9																	112898559		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112898559T>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.42T>G	9.37:g.112898559T>G						PALM2-AKAP2_uc004bek.3_Silent_p.P245P|PALM2-AKAP2_uc004bej.3_Silent_p.P245P|PALM2-AKAP2_uc004bel.1_Silent_p.P55P|AKAP2_uc011lwi.1_Silent_p.P103P|AKAP2_uc004bem.2_Silent_p.P103P|PALM2-AKAP2_uc010mtw.1_Silent_p.P63P|AKAP2_uc011lwj.1_Silent_p.P14P|PALM2-AKAP2_uc004ben.2_Silent_p.P14P	p.P477P	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1623	+			14					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1431T>G	CCDS48003.1																																																																																				0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		31	88	0	0	0	0	31	88				
AKAP2	11217	broad.mit.edu	37	9	112899252	112899252	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:112899252G>T	ENST00000259318.7	+	2	942	c.735G>T	c.(733-735)ccG>ccT	p.P245P	AKAP2_ENST00000434623.2_Silent_p.P334P|AKAP2_ENST00000555236.1_Silent_p.P476P|AKAP2_ENST00000510514.5_Silent_p.P476P|AKAP2_ENST00000374525.1_Silent_p.P334P|PALM2-AKAP2_ENST00000374530.3_Silent_p.P476P|PALM2-AKAP2_ENST00000302798.7_Silent_p.P476P	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	245										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGAATCCCCCGCAGGAAAAAA	0.542																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2122-2124)CCG>CCT		A kinase (PRKA) anchor protein 2 isoform 2							52.0	56.0	55.0					9																	112899252		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112899252G>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.735G>T	9.37:g.112899252G>T						PALM2-AKAP2_uc004bek.3_Silent_p.P476P|PALM2-AKAP2_uc004bej.3_Silent_p.P476P|PALM2-AKAP2_uc004bel.1_Silent_p.P286P|AKAP2_uc011lwi.1_Silent_p.P334P|AKAP2_uc004bem.2_Silent_p.P334P|PALM2-AKAP2_uc010mtw.1_Silent_p.P294P|AKAP2_uc011lwj.1_Silent_p.P245P|PALM2-AKAP2_uc004ben.2_Silent_p.P245P	p.P708P	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2316	+			245			Potential.		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2124G>T	CCDS48003.1																																																																																				0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		18	42	1	0	5.39e-06	6.14e-06	18	42				
ASTN2	23245	broad.mit.edu	37	9	119202971	119202971	+	Silent	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:119202971C>A	ENST00000313400.4	-	22	3799	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	ASTN2_ENST00000361209.2_Silent_p.L1182L|ASTN2_ENST00000361477.3_Silent_p.L285L|ASTN2_ENST00000373996.3_Silent_p.L1229L|ASTN2_ENST00000341734.4_Silent_p.L285L|ASTN2_ENST00000288520.5_Silent_p.L334L			O75129	ASTN2_HUMAN	astrotactin 2	1233					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L1182L(1)|p.L285L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGACTCGGAACAGCATCGAGG	0.498																																						uc004bjs.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3697-3699)CTG>CTT		astrotactin 2 isoform c							179.0	143.0	155.0					9																	119202971		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119202971C>A	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.3699G>T	9.37:g.119202971C>A						ASTN2_uc004bjr.1_Silent_p.L1229L|ASTN2_uc004bjt.1_Silent_p.L1182L|ASTN2_uc004bjp.1_Silent_p.L326L|ASTN2_uc004bjq.1_Silent_p.L285L|ASTN2_uc011lxr.1_Silent_p.L285L|ASTN2_uc011lxs.1_Silent_p.L285L|ASTN2_uc011lxt.1_Silent_p.L285L|ASTN2_uc004bjo.1_Silent_p.L14L	p.L1233L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			22	3800	-			1233			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3699G>T		.	.	.	.	.	.	.	.	.	.	C	8.789	0.930097	0.18131	.	.	ENSG00000148219	ENST00000417725	.	.	.	5.91	-2.91	0.05631	.	.	.	.	.	T	0.50017	0.1591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47661	-0.9100	4	.	.	.	-15.7773	6.5273	0.22309	0.2762:0.2438:0.419:0.061	.	.	.	.	F	15	.	.	C	-	2	0	ASTN2	118242792	0.456000	0.25744	0.995000	0.50966	0.995000	0.86356	-0.272000	0.08560	-0.128000	0.11641	-0.165000	0.13383	TGT		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		28	75	1	0	3.74e-20	5.19e-20	28	75				
TLR4	7099	broad.mit.edu	37	9	120470943	120470943	+	Silent	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:120470943C>T	ENST00000355622.6	+	2	297	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000394487.4_Silent_p.L26L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	66					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)	CTTTAATCCCCTGAGGCATTT	0.443																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(196-198)CTG>TTG		toll-like receptor 4 precursor							155.0	158.0	157.0					9																	120470943		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.chr9:120470943C>T	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.196C>T	9.37:g.120470943C>T						TLR4_uc004bka.2_Silent_p.L26L|TLR4_uc004bkb.2_Intron	p.L66L	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	487	+			66			LRR 1.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.196C>T	CCDS6818.1																																																																																				0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		52	132	0	0	0	0	52	132				
OR1L1	26737	broad.mit.edu	37	9	125424532	125424532	+	Missense_Mutation	SNP	G	G	T	rs142065229		TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:125424532G>T	ENST00000373686.1	+	1	688	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	OR1L1_ENST00000309623.1_Missense_Mutation_p.D180Y			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	230						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(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTTTTTCTGCGATGATCAACC	0.428																																						uc011lza.1		NA																	0				skin(3)|ovary(1)	4						c.(688-690)GAT>TAT		olfactory receptor, family 1, subfamily L,							277.0	258.0	264.0					9																	125424532		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424532G>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.688G>T	9.37:g.125424532G>T	ENSP00000362790:p.Asp230Tyr						p.D230Y	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	688	+			230			Extracellular (Potential).		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.688G>T		.	.	.	.	.	.	.	.	.	.	G	12.53	1.966610	0.34659	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00207	8.55;8.55	3.26	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00936	0.0031	H	0.96889	3.9	0.27467	N	0.952967	D	0.89917	1.0	D	0.87578	0.998	T	0.10042	-1.0647	9	0.87932	D	0	.	12.6927	0.56985	0.0985:0.0:0.9015:0.0	.	230	Q8NH94	OR1L1_HUMAN	Y	230;180	ENSP00000362790:D230Y;ENSP00000310773:D180Y	ENSP00000310773:D180Y	D	+	1	0	OR1L1	124464353	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	6.319000	0.72871	0.202000	0.20498	-1.786000	0.00637	GAT		0.428	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				59	123	1	0	4.96e-28	7.15e-28	59	123				
GLRA2	2742	broad.mit.edu	37	X	14627215	14627215	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:14627215G>C	ENST00000218075.4	+	7	1348	c.818G>C	c.(817-819)tGg>tCg	p.W273S	GLRA2_ENST00000443437.2_Missense_Mutation_p.W184S|GLRA2_ENST00000355020.4_Missense_Mutation_p.W273S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	273					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	ATTTTGTCCTGGGTTTCCTTT	0.473																																						uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(817-819)TGG>TCG		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						109.0	107.0	108.0					X																	14627215		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627215G>C		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.818G>C	X.37:g.14627215G>C	ENSP00000218075:p.Trp273Ser					GLRA2_uc010neq.2_Missense_Mutation_p.W273S|GLRA2_uc004cwe.3_Missense_Mutation_p.W273S|GLRA2_uc011mio.1_Missense_Mutation_p.W184S|GLRA2_uc011mip.1_Missense_Mutation_p.W251S	p.W273S	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			8	1150	+	Hepatocellular(33;0.128)		273			Helical; (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.818G>C	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526862	0.85706	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.83591	-1.74;-1.74;-1.74	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.96547	0.9405	10	0.87932	D	0	.	18.7674	0.91879	0.0:0.0:1.0:0.0	.	257;273;273	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	S	184;273;273	ENSP00000387756:W184S;ENSP00000218075:W273S;ENSP00000347123:W273S	ENSP00000218075:W273S	W	+	2	0	GLRA2	14537136	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.771000	0.98977	2.378000	0.81104	0.600000	0.82982	TGG		0.473	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			51	29	0	0	0	0	51	29				
NHS	4810	broad.mit.edu	37	X	17739579	17739579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:17739579G>T	ENST00000380060.3	+	4	1209	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Nonsense_Mutation_p.E135*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	312					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCAGAGGATGAAGATACAGA	0.433																																						uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(871-873)GAA>TAA		Nance-Horan syndrome protein isoform 1							124.0	104.0	111.0					X																	17739579		2203	4300	6503	SO:0001587	stop_gained	4810					nucleus		g.chrX:17739579G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.871G>T	X.37:g.17739579G>T	ENSP00000369400:p.Glu291*					NHS_uc011mix.1_Nonsense_Mutation_p.E312*|NHS_uc004cxy.2_Nonsense_Mutation_p.E135*|NHS_uc004cxz.2_Nonsense_Mutation_p.E114*|NHS_uc004cya.2_Nonsense_Mutation_p.E14*	p.E291*	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			4	1209	+	Hepatocellular(33;0.183)		291					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	c.871G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	42	9.426761	0.99167	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.88	5.88	0.94601	.	0.095977	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.0187	19.1445	0.93459	0.0:0.0:1.0:0.0	.	.	.	.	X	291;135;133	.	ENSP00000369397:E133X	E	+	1	0	NHS	17649500	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.050000	0.64251	2.471000	0.83476	0.600000	0.82982	GAA		0.433	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		25	13	1	0	4.6e-10	5.76e-10	25	13				
DMD	1756	broad.mit.edu	37	X	32459328	32459328	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:32459328C>G	ENST00000357033.4	-	28	4096	c.3890G>C	c.(3889-3891)gGc>gCc	p.G1297A	DMD_ENST00000378677.2_Missense_Mutation_p.G1293A	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	1297					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)				CTCAGCTCCGCCAGGAATGTT	0.358																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3889-3891)GGC>GCC		dystrophin Dp427m isoform							75.0	73.0	74.0					X																	32459328		2201	4300	6501	SO:0001583	missense	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:32459328C>G	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.3890G>C	X.37:g.32459328C>G	ENSP00000354923:p.Gly1297Ala					DMD_uc004dcz.2_Missense_Mutation_p.G1174A|DMD_uc004dcy.1_Missense_Mutation_p.G1293A|DMD_uc004ddb.1_Missense_Mutation_p.G1289A|DMD_uc010ngo.1_Intron	p.G1297A	NM_004006	NP_003997	P11532	DMD_HUMAN			28	4134	-		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)	1297			Spectrin 9.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3890G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218762	0.22373	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.16597	2.33;2.33	5.3	0.0623	0.14344	.	0.233058	0.20781	N	0.085799	T	0.13586	0.0329	L	0.42245	1.32	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12156	0.003;0.007;0.001	T	0.21895	-1.0232	10	0.14252	T	0.57	.	13.4446	0.61134	0.0:0.3982:0.5348:0.067	.	1289;1297;1293	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	A	1289;1293;1297;1297;1174	ENSP00000367948:G1293A;ENSP00000354923:G1297A	ENSP00000354923:G1297A	G	-	2	0	DMD	32369249	0.764000	0.28473	0.026000	0.17262	0.965000	0.64279	1.439000	0.35013	-0.498000	0.06632	-0.216000	0.12614	GGC		0.358	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		31	21	0	0	0	0	31	21				
FAM47B	170062	broad.mit.edu	37	X	34962223	34962223	+	Silent	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:34962223G>T	ENST00000329357.5	+	1	1311	c.1275G>T	c.(1273-1275)ccG>ccT	p.P425P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	425								p.P425P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTACCA	0.547																																						uc004ddi.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|breast(1)	4						c.(1273-1275)CCG>CCT		hypothetical protein LOC170062							68.0	63.0	65.0					X																	34962223		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962223G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1275G>T	X.37:g.34962223G>T							p.P425P	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1293	+			425					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1275G>T	CCDS14236.1																																																																																				0.547	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		31	10	1	0	3.8e-20	5.28e-20	31	10				
DGKK	139189	broad.mit.edu	37	X	50163498	50163498	+	RNA	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:50163498G>T	ENST00000376025.2	-	0	904							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTTGTGGTGTAATAACCTA	0.388																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(844-846)ACA>AAA		diacylglycerol kinase kappa							196.0	177.0	183.0					X																	50163498		1882	4092	5974			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50163498G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50163498G>T							p.T282K	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			4	905	-	Ovarian(276;0.236)		282			PH.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.845C>A																																																																																					0.388	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		39	21	1	0	2.59e-14	3.46e-14	39	21				
TRO	7216	broad.mit.edu	37	X	54957428	54957428	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:54957428G>T	ENST00000173898.7	+	12	4383	c.4271G>T	c.(4270-4272)gGt>gTt	p.G1424V	TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1027V|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G955V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1424	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCCAGTCTTGGTGCCTGTGGC	0.567																																						uc004dtq.2		NA																	0				ovary(1)	1						c.(4270-4272)GGT>GTT		trophinin isoform 5							26.0	28.0	27.0					X																	54957428		1962	4140	6102	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957428G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4271G>T	X.37:g.54957428G>T	ENSP00000173898:p.Gly1424Val					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G955V|TRO_uc004dtw.2_Missense_Mutation_p.G1027V|TRO_uc004dtx.2_Missense_Mutation_p.G807V	p.G1424V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	4378	+			1424			62; approximate.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.4271G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613661	0.28712	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.08634	3.8;3.07;3.32	3.84	1.92	0.25849	.	.	.	.	.	T	0.04497	0.0123	N	0.14661	0.345	0.39606	D	0.969812	B;B	0.31611	0.197;0.331	B;B	0.30179	0.035;0.112	T	0.44375	-0.9332	9	0.72032	D	0.01	.	4.4826	0.11774	0.115:0.0:0.4884:0.3966	.	1027;1424	B1AKE9;Q12816	.;TROP_HUMAN	V	1424;350;955;1027	ENSP00000173898:G1424V;ENSP00000405126:G955V;ENSP00000364181:G1027V	ENSP00000173898:G1424V	G	+	2	0	TRO	54974153	0.541000	0.26417	0.926000	0.36857	0.698000	0.40448	0.644000	0.24766	0.196000	0.20367	0.600000	0.82982	GGT		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		9	11	1	0	1.11e-13	1.47e-13	9	11				
AMER1	139285	broad.mit.edu	37	X	63410293	63410293	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:63410293C>A	ENST00000330258.3	-	2	3146	c.2874G>T	c.(2872-2874)tgG>tgT	p.W958C	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	958	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCCAAGCAGGCCAATCATAGG	0.577													C|||	1	0.000264901	0.0	0.0	3775	,	,		13461	0.001		0.0	False		,,,				2504	0.0					uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(2872-2874)TGG>TGT		family with sequence similarity 123B							32.0	33.0	33.0					X																	63410293		1907	4120	6027	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63410293C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2874G>T	X.37:g.63410293C>A	ENSP00000329117:p.Trp958Cys						p.W958C	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	3147	-			958			Pro-rich.		A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2874G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249584	0.05867	.	.	ENSG00000184675	ENST00000330258	T	0.53423	0.62	4.79	3.9	0.45041	.	.	.	.	.	T	0.29256	0.0728	L	0.27053	0.805	0.46542	D	0.99909	B	0.14805	0.011	B	0.14023	0.01	T	0.07731	-1.0757	8	.	.	.	-0.216	5.2324	0.15430	0.2062:0.6886:0.0:0.1052	.	958	Q5JTC6	F123B_HUMAN	C	958	ENSP00000329117:W958C	.	W	-	3	0	FAM123B	63327018	0.155000	0.22806	0.963000	0.40424	0.537000	0.34900	-0.007000	0.12810	1.126000	0.42016	0.529000	0.55759	TGG		0.577	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		15	6	1	0	4.75e-09	5.85e-09	15	6				
BRWD3	254065	broad.mit.edu	37	X	79932626	79932626	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:79932626T>A	ENST00000373275.4	-	41	5107	c.4891A>T	c.(4891-4893)Aca>Tca	p.T1631S	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1631					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						TCTTGATCTGTTCTGGAAGTT	0.383																																						uc004edt.2		NA																	0				ovary(4)	4						c.(4891-4893)ACA>TCA		bromodomain and WD repeat domain containing 3							208.0	192.0	198.0					X																	79932626		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932626T>A		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.4891A>T	X.37:g.79932626T>A	ENSP00000362372:p.Thr1631Ser					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.T1227S|BRWD3_uc004edp.2_Missense_Mutation_p.T1460S|BRWD3_uc004edq.2_Missense_Mutation_p.T1227S|BRWD3_uc010nmj.1_Missense_Mutation_p.T1227S|BRWD3_uc004edr.2_Missense_Mutation_p.T1301S|BRWD3_uc004eds.2_Missense_Mutation_p.T1227S|BRWD3_uc004edu.2_Missense_Mutation_p.T1301S|BRWD3_uc004edv.2_Missense_Mutation_p.T1227S|BRWD3_uc004edw.2_Missense_Mutation_p.T1227S|BRWD3_uc004edx.2_Missense_Mutation_p.T1227S|BRWD3_uc004edy.2_Missense_Mutation_p.T1227S|BRWD3_uc004edz.2_Missense_Mutation_p.T1301S|BRWD3_uc004eea.2_Missense_Mutation_p.T1301S|BRWD3_uc004eeb.2_Missense_Mutation_p.T1227S|uc004edn.1_5'Flank	p.T1631S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5154	-			1631					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4891A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	6.733	0.504092	0.12822	.	.	ENSG00000165288	ENST00000373275	T	0.74421	-0.84	4.43	4.43	0.53597	.	0.211794	0.40302	N	0.001121	T	0.50599	0.1625	N	0.08118	0	0.29276	N	0.870384	B	0.11235	0.004	B	0.11329	0.006	T	0.40683	-0.9550	9	.	.	.	-9.3637	8.6243	0.33879	0.1731:0.0:0.0:0.8268	.	1631	Q6RI45	BRWD3_HUMAN	S	1631	ENSP00000362372:T1631S	.	T	-	1	0	BRWD3	79819282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.464000	0.45067	1.639000	0.50556	0.412000	0.27726	ACA		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		47	36	0	0	0	0	47	36				
PABPC5	140886	broad.mit.edu	37	X	90690743	90690743	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:90690743G>T	ENST00000312600.3	+	2	381	c.167G>T	c.(166-168)cGc>cTc	p.R56L	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	56	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGGTGACCCGCAGCCCCCTG	0.532																																						uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(166-168)CGC>CTC		poly(A) binding protein, cytoplasmic 5							34.0	29.0	31.0					X																	90690743		2203	4299	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690743G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.167G>T	X.37:g.90690743G>T	ENSP00000308012:p.Arg56Leu					PABPC5_uc004eff.1_Intron	p.R56L	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	607	+			56			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.167G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343876	0.41498	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.06218	3.33	4.43	2.68	0.31781	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.104646	0.64402	D	0.000004	T	0.08670	0.0215	M	0.77712	2.385	0.53005	D	0.999962	P	0.35944	0.529	B	0.30943	0.122	T	0.06144	-1.0843	10	0.72032	D	0.01	.	8.0137	0.30368	0.2076:0.0:0.7924:0.0	.	56	Q96DU9	PABP5_HUMAN	L	56;24	ENSP00000308012:R56L	ENSP00000308012:R56L	R	+	2	0	PABPC5	90577399	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	2.882000	0.48546	0.616000	0.30141	-0.192000	0.12808	CGC		0.532	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		9	5	1	0	5.69e-11	7.26e-11	9	5				
PCDH11X	27328	broad.mit.edu	37	X	91132611	91132611	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:91132611G>C	ENST00000373094.1	+	2	2217	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PCDH11X_ENST00000373097.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D458H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D458H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D458H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	458	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CAAAGTGAAAGATGAAAATGA	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(1372-1374)GAT>CAT		protocadherin 11 X-linked isoform c							55.0	50.0	51.0					X																	91132611		2202	4280	6482	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132611G>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1372G>C	X.37:g.91132611G>C	ENSP00000362186:p.Asp458His					PCDH11X_uc004efl.1_Missense_Mutation_p.D458H|PCDH11X_uc004efo.1_Missense_Mutation_p.D458H|PCDH11X_uc010nmv.1_Missense_Mutation_p.D458H|PCDH11X_uc004efm.1_Missense_Mutation_p.D458H|PCDH11X_uc004efn.1_Missense_Mutation_p.D458H|PCDH11X_uc004efh.1_Missense_Mutation_p.D458H|PCDH11X_uc004efj.1_Missense_Mutation_p.D458H	p.D458H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2217	+			458			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1372G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827520	0.50845	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.38	5.38	0.77491	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	H	0.98701	4.305	0.80722	D	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	0.97110	1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.97915	1.0311	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	458;458;458;458;458;458;458;458	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	458	ENSP00000378746:D458H;ENSP00000362186:D458H;ENSP00000362189:D458H;ENSP00000355040:D458H;ENSP00000362180:D458H;ENSP00000423762:D458H;ENSP00000355105:D458H;ENSP00000384758:D458H;ENSP00000298274:D458H	ENSP00000298274:D458H	D	+	1	0	PCDH11X	91019267	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	9.507000	0.97996	2.231000	0.72958	0.544000	0.68410	GAT		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		27	12	0	0	0	0	27	12				
NXF3	56000	broad.mit.edu	37	X	102332651	102332651	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:102332651A>T	ENST00000395065.3	-	18	1576	c.1475T>A	c.(1474-1476)cTc>cAc	p.L492H	NXF3_ENST00000425644.1_Missense_Mutation_p.L164H	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	492	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGCACAAAGAGCTTGTCATT	0.572																																						uc004eju.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1474-1476)CTC>CAC		nuclear RNA export factor 3							195.0	130.0	152.0					X																	102332651		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102332651A>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1475T>A	X.37:g.102332651A>T	ENSP00000378504:p.Leu492His					NXF3_uc010noi.1_3'UTR	p.L492H	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			18	1546	-			492			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1475T>A	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660645	0.67586	.	.	ENSG00000147206	ENST00000395065;ENST00000425644	T	0.62788	-0.0	4.44	4.44	0.53790	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.081660	0.51477	D	0.000093	D	0.82614	0.5075	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85797	0.1371	10	0.87932	D	0	-4.0492	9.5959	0.39573	1.0:0.0:0.0:0.0	.	492	Q9H4D5	NXF3_HUMAN	H	492;164	ENSP00000378504:L492H	ENSP00000378504:L492H	L	-	2	0	NXF3	102219307	1.000000	0.71417	0.028000	0.17463	0.008000	0.06430	7.020000	0.76419	1.723000	0.51488	0.486000	0.48141	CTC		0.572	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		42	22	0	0	0	0	42	22				
TEX13A	56157	broad.mit.edu	37	X	104464879	104464879	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:104464879G>A	ENST00000413579.1	-	2	314	c.203C>T	c.(202-204)aCc>aTc	p.T68I	TEX13A_ENST00000372578.3_Missense_Mutation_p.T68I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.T68I|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	68							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCTGCCCCAGGTGCAGGCCTC	0.582																																						uc004ema.2		NA																	0				ovary(2)	2						c.(202-204)ACC>ATC		testis expressed sequence 13A							45.0	43.0	43.0					X																	104464879		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464879G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.203C>T	X.37:g.104464879G>A	ENSP00000399753:p.Thr68Ile					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.T68I	p.T68I	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	315	-			68					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.203C>T		.	.	.	.	.	.	.	.	.	.	G	8.464	0.856045	0.17106	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	3.11	0.35812	.	0.547339	0.13916	N	0.353920	T	0.29749	0.0743	.	.	.	0.23232	N	0.998071	B;B	0.28820	0.224;0.224	B;B	0.21360	0.034;0.021	T	0.22103	-1.0226	8	0.72032	D	0.01	.	8.9123	0.35561	0.0:0.0:1.0:0.0	.	68;68	C9JWK0;Q9BXU3	.;TX13A_HUMAN	I	68	.	ENSP00000361656:T68I	T	-	2	0	TEX13A	104351535	0.725000	0.28048	0.886000	0.34754	0.216000	0.24613	1.293000	0.33353	1.835000	0.53391	0.506000	0.49869	ACC		0.582	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		16	11	0	0	0	0	16	11				
NRK	203447	broad.mit.edu	37	X	105132386	105132386	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:105132386C>A	ENST00000243300.9	+	5	655	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	NRK_ENST00000428173.2_Missense_Mutation_p.P118T|NRK_ENST00000536164.1_Missense_Mutation_p.P118T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAGCTGAGTCCCCCTGGTCA	0.398										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(352-354)CCC>ACC		Nik related kinase							110.0	88.0	95.0					X																	105132386		1885	4103	5988	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105132386C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.352C>A	X.37:g.105132386C>A	ENSP00000434830:p.Pro118Thr	HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.P118T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			5	655	+			118			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.352C>A		.	.	.	.	.	.	.	.	.	.	C	17.06	3.291221	0.59976	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.79454	-1.24;-1.27;1.45	4.95	4.95	0.65309	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	0.42964	D	0.000635	T	0.80979	0.4728	N	0.21142	0.635	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84001	0.0343	10	0.72032	D	0.01	.	16.0077	0.80374	0.0:1.0:0.0:0.0	.	118	Q7Z2Y5	NRK_HUMAN	T	118	ENSP00000434830:P118T;ENSP00000438378:P118T;ENSP00000438785:P118T	ENSP00000434830:P118T	P	+	1	0	NRK	105019042	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.663000	0.83820	2.173000	0.68751	0.594000	0.82650	CCC		0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		5	2	1	0	5.94e-07	6.97e-07	5	2				
BCORL1	63035	broad.mit.edu	37	X	129184758	129184758	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:129184758G>T	ENST00000218147.7	+	11	4882	c.4685G>T	c.(4684-4686)aGt>aTt	p.S1562I	BCORL1_ENST00000540052.1_Missense_Mutation_p.S1562I|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1636I|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1432I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1562					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTTTACAGCAGTTCTGTGTTG	0.502																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(4684-4686)AGT>ATT		BCL6 co-repressor-like 1							235.0	197.0	210.0					X																	129184758		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129184758G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4685G>T	X.37:g.129184758G>T	ENSP00000218147:p.Ser1562Ile					BCORL1_uc004evc.1_Missense_Mutation_p.S398I	p.S1562I	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			11	4799	+			1562					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4685G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826637	0.90955	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.46063	0.88;1.08;0.88;0.88;1.11	5.63	5.63	0.86233	.	0.000000	0.42964	D	0.000638	T	0.65943	0.2740	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.972	T	0.68792	-0.5315	10	0.72032	D	0.01	-8.8544	18.2953	0.90143	0.0:0.0:1.0:0.0	.	1636;1562	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	I	1562;1636;1432;1562;1236	ENSP00000218147:S1562I;ENSP00000307541:S1636I;ENSP00000352253:S1432I;ENSP00000437775:S1562I;ENSP00000399483:S1236I	ENSP00000218147:S1562I	S	+	2	0	BCORL1	129012439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.272000	0.95707	2.359000	0.80004	0.513000	0.50165	AGT		0.502	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		61	39	1	0	8.34e-18	1.15e-17	61	39				
GPR101	83550	broad.mit.edu	37	X	136112905	136112905	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:136112905C>T	ENST00000298110.1	-	1	928	c.929G>A	c.(928-930)aGc>aAc	p.S310N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCACCGTGCTGCTCTCTCT	0.602																																						uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(928-930)AGC>AAC		G protein-coupled receptor 101							293.0	210.0	238.0					X																	136112905		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112905C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.929G>A	X.37:g.136112905C>T	ENSP00000298110:p.Ser310Asn						p.S310N	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	929	-	Acute lymphoblastic leukemia(192;0.000127)		310			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.929G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.467589	0.01053	.	.	ENSG00000165370	ENST00000298110	T	0.64803	-0.12	2.59	0.645	0.17782	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38692	0.1050	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16897	-1.0387	9	0.18276	T	0.48	.	2.1521	0.03802	0.2546:0.4376:0.0:0.3078	.	310	Q96P66	GP101_HUMAN	N	310	ENSP00000298110:S310N	ENSP00000298110:S310N	S	-	2	0	GPR101	135940571	0.963000	0.33076	0.000000	0.03702	0.006000	0.05464	2.271000	0.43364	0.072000	0.16694	0.513000	0.50165	AGC		0.602	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			72	51	0	0	0	0	72	51				
MAGEC1	9947	broad.mit.edu	37	X	140993368	140993368	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:140993368G>T	ENST00000285879.4	+	4	464	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	60										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTCTGAGGGGGAGGACTC	0.602										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(178-180)GGG>TGG		melanoma antigen family C, 1							79.0	81.0	80.0					X																	140993368		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993368G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.178G>T	X.37:g.140993368G>T	ENSP00000285879:p.Gly60Trp	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G60W	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	464	+	Acute lymphoblastic leukemia(192;6.56e-05)		60					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.178G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.373	0.068771	0.08436	.	.	ENSG00000155495	ENST00000285879	T	0.03889	3.77	0.149	0.149	0.14863	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.54753	D	0.999984	D	0.67145	0.996	P	0.60117	0.869	T	0.54437	-0.8294	9	0.87932	D	0	.	2.933	0.05805	2.0E-4:2.0E-4:0.509:0.4906	.	60	O60732	MAGC1_HUMAN	W	60	ENSP00000285879:G60W	ENSP00000285879:G60W	G	+	1	0	MAGEC1	140821034	0.002000	0.14202	0.013000	0.15412	0.013000	0.08279	0.213000	0.17521	0.177000	0.19895	0.179000	0.17066	GGG		0.602	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		42	31	1	0	4.67e-22	6.56e-22	42	31				
PLXNA3	55558	broad.mit.edu	37	X	153689091	153689091	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153689091G>A	ENST00000369682.3	+	2	743	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	190	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)	p.E190K(1)		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)					CATCAGTGATGAAGACAGCGC	0.597																																						uc004flm.2		NA																	1	Substitution - Missense(1)		cervix(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(568-570)GAA>AAA		plexin A3 precursor							51.0	53.0	52.0					X																	153689091		2191	4275	6466	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689091G>A	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.568G>A	X.37:g.153689091G>A	ENSP00000358696:p.Glu190Lys						p.E190K	NM_017514	NP_059984	P51805	PLXA3_HUMAN			2	741	+	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)		190			Sema.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.568G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179076	0.78564	.	.	ENSG00000130827	ENST00000369682	T	0.05081	3.5	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.47190	1.495	0.58432	D	0.999999	P	0.41569	0.755	P	0.52066	0.689	T	0.05886	-1.0858	10	0.26408	T	0.33	.	16.4093	0.83701	0.0:0.0:1.0:0.0	.	190	P51805	PLXA3_HUMAN	K	190	ENSP00000358696:E190K	ENSP00000358696:E190K	E	+	1	0	PLXNA3	153342285	1.000000	0.71417	0.900000	0.35374	0.640000	0.38277	3.513000	0.53414	2.395000	0.81488	0.529000	0.55759	GAA		0.597	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		29	18	0	0	0	0	29	18				
PLXNA3	55558	broad.mit.edu	37	X	153693211	153693211	+	Splice_Site	SNP	G	G	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:153693211G>A	ENST00000369682.3	+	10	2218	c.2043G>A	c.(2041-2043)gaG>gaA	p.E681E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	681					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)					ACAGCCCTGAGGTGAGGCGGG	0.662																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2041-2043)GAG>GAA		plexin A3 precursor							30.0	21.0	24.0					X																	153693211		2188	4289	6477	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153693211G>A	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.2043+1G>A	X.37:g.153693211G>A							p.E681E	NM_017514	NP_059984	P51805	PLXA3_HUMAN			10	2216	+	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)		681			Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2043G>A	CCDS14752.1																																																																																				0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Silent	3	2	0	0	0	0	3	2				
TAS2R8	50836	broad.mit.edu	37	12	10959383	10959383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:10959383delC	ENST00000240615.2	-	1	509	c.197delG	c.(196-198)ggcfs	p.G66fs		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTACAATGCCATTTACAAC	0.318																																						uc010shh.1		NA																	0				ovary(2)	2						c.(196-198)GGCfs		taste receptor, type 2, member 8							118.0	113.0	115.0					12																	10959383		2203	4300	6503	SO:0001589	frameshift_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959383delC	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.197delG	12.37:g.10959383delC	ENSP00000240615:p.Gly66fs						p.G66fs	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	197	-			66			Helical; Name=2; (Potential).		Q4KN29|Q645Y2	Frame_Shift_Del	DEL	ENST00000240615.2	37	c.197delG	CCDS8632.1																																																																																				0.318	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			31	72	NA	NA	NA	NA	31	72	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32975546	32975547	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr12:32975546_32975547delCA	ENST00000070846.6	-	9	1849_1850	c.1825_1826delTG	c.(1825-1827)tgcfs	p.C609fs	PKP2_ENST00000340811.4_Frame_Shift_Del_p.C565fs	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	609					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)					ATGAAGAATGCACACACAATTC	0.426																																						uc001rlj.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1825-1827)TGCfs		plakophilin 2 isoform 2b																																				SO:0001589	frameshift_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32975546_32975547delCA	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.1825_1826delTG	12.37:g.32975552_32975553delCA	ENSP00000070846:p.Cys609fs					PKP2_uc001rlk.3_Frame_Shift_Del_p.C565fs|PKP2_uc010skj.1_Frame_Shift_Del_p.C565fs	p.C609fs	NM_004572	NP_004563	Q99959	PKP2_HUMAN			9	1940_1941	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		609			ARM 4.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Frame_Shift_Del	DEL	ENST00000070846.6	37	c.1825_1826delTG	CCDS8731.1																																																																																				0.426	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		22	58	NA	NA	NA	NA	22	58	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33497240	33497241	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr17:33497240_33497241insC	ENST00000268876.5	+	12	1752_1753	c.1655_1656insC	c.(1654-1659)gtccctfs	p.VP552fs	UNC45B_ENST00000394570.2_Frame_Shift_Ins_p.VP552fs|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Frame_Shift_Ins_p.VP552fs	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	552					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTCCAGGACGTCCCTGCCCTGC	0.619																																						uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1654-1656)GTCfs		cardiomyopathy associated 4 isoform 1																																				SO:0001589	frameshift_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33497240_33497241insC	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1658dupC	17.37:g.33497243_33497243dupC	ENSP00000268876:p.Val552fs					UNC45B_uc002hjb.2_Frame_Shift_Ins_p.V552fs|UNC45B_uc002hjc.2_Frame_Shift_Ins_p.V552fs|UNC45B_uc010cto.2_Intron	p.V552fs	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			12	1752_1753	+		Ovarian(249;0.17)	552					Q495Q8|Q495Q9	Frame_Shift_Ins	INS	ENST00000268876.5	37	c.1655_1656insC	CCDS11292.1																																																																																				0.619	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		15	30	NA	NA	NA	NA	15	30	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14306693	14306694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr20:14306693_14306694insT	ENST00000378053.3	-	2	1715_1716	c.1459_1460insA	c.(1459-1461)ctcfs	p.L487fs	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Frame_Shift_Ins_p.L487fs	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	487	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		AAATAGGTAGAGGTTGCTGGTT	0.455																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1459-1461)CTCfs		fibronectin leucine rich transmembrane protein 3																																				SO:0001589	frameshift_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306693_14306694insT	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.1459_1460insA	20.37:g.14306693_14306694insT	ENSP00000367292:p.Leu487fs					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Frame_Shift_Ins_p.L487fs	p.L487fs	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1926_1927	-		Colorectal(1;0.0464)	487			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Frame_Shift_Ins	INS	ENST00000378053.3	37	c.1459_1460insA	CCDS13121.1																																																																																				0.455	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		26	89	NA	NA	NA	NA	26	89	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47821563	47821563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr21:47821563delG	ENST00000359568.5	+	26	4997	c.4890delG	c.(4888-4890)tcgfs	p.S1630fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCCTCCTTCGGGCAGCCCTC	0.562																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(4888-4890)TCGfs		pericentrin							88.0	84.0	85.0					21																	47821563		2203	4300	6503	SO:0001589	frameshift_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47821563delG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4890delG	21.37:g.47821563delG	ENSP00000352572:p.Ser1630fs					PCNT_uc002zjj.2_Frame_Shift_Del_p.S1512fs	p.S1630fs	NM_006031	NP_006022	O95613	PCNT_HUMAN			26	4997	+	Breast(49;0.112)		1630			Potential.		O43152|Q7Z7C9	Frame_Shift_Del	DEL	ENST00000359568.5	37	c.4890delG	CCDS33592.1																																																																																				0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		39	70	NA	NA	NA	NA	39	70	---	---	---	---
OR11H1	81061	broad.mit.edu	37	22	16449523	16449523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr22:16449523delG	ENST00000252835.4	-	1	282	c.282delC	c.(280-282)cccfs	p.P94fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	94						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(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CCAACATCTTGGGAACTGTAG	0.408																																						uc011agd.1		NA																	0					0						c.(280-282)CCCfs		olfactory receptor, family 11, subfamily H,							1.0	1.0	1.0					22																	16449523		46	153	199	SO:0001589	frameshift_variant	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449523delG	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.282delC	22.37:g.16449523delG	ENSP00000252835:p.Pro94fs						p.P94fs	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	282	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	94			Extracellular (Potential).		Q6IEX0|Q96R32	Frame_Shift_Del	DEL	ENST00000252835.4	37	c.282delC	CCDS33594.1																																																																																				0.408	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		8	57	NA	NA	NA	NA	8	57	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77651571	77651571	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:77651571delG	ENST00000461745.1	+	20	3965	c.3065delG	c.(3064-3066)agcfs	p.S1023fs	ROBO2_ENST00000332191.8_Frame_Shift_Del_p.S1023fs|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.S1039fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1023					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGGAAAAGCTCAATTCAG	0.443																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3064-3066)AGCfs		roundabout, axon guidance receptor, homolog 2							117.0	109.0	112.0					3																	77651571		1928	4147	6075	SO:0001589	frameshift_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77651571delG	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3065delG	3.37:g.77651571delG	ENSP00000417164:p.Ser1023fs					ROBO2_uc003dpz.2_Frame_Shift_Del_p.S1026fs|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Frame_Shift_Del_p.S1026fs|ROBO2_uc003dqa.2_Frame_Shift_Del_p.S149fs	p.S1022fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	20	3708	+			1022			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Frame_Shift_Del	DEL	ENST00000461745.1	37	c.3065delG	CCDS43109.1																																																																																				0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	17	NA	NA	NA	NA	23	17	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133657272	133657272	+	Splice_Site	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:133657272delC	ENST00000310926.4	-	12	1964		c.e12+1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TAGACACTTACCCAGCAAGCG	0.537																																						uc003eqa.3		NA																	0				central_nervous_system(1)	1						c.e12+1		solute carrier organic anion transporter family,							145.0	130.0	135.0					3																	133657272		2203	4300	6503	SO:0001630	splice_region_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133657272delC		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1690+1G>-	3.37:g.133657272delC						SLCO2A1_uc003eqb.3_Splice_Site_p.A488_splice	p.A564_splice	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			12	1964	-								Q86V98|Q8IUN2	Splice_Site	DEL	ENST00000310926.4	37	c.1690_splice	CCDS3084.1																																																																																				0.537	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	Intron	103	66	NA	NA	NA	NA	103	66	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	167	NA	NA	NA	NA	7	167	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180372672	180372672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr3:180372672delC	ENST00000442201.2	-	7	927	c.808delG	c.(808-810)gaafs	p.E270fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.E354fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	270					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	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)			ATCTCACTTTCCAAAAACTTG	0.318																																						uc010hxe.2		NA																	0				ovary(4)	4						c.(808-810)GAAfs		coiled-coil domain containing 39							146.0	127.0	133.0					3																	180372672		1800	4071	5871	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372672delC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.808delG	3.37:g.180372672delC	ENSP00000405708:p.Glu270fs					CCDC39_uc003fkn.2_RNA	p.E270fs	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	923	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		270			Potential.		B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.808delG	CCDS46964.1																																																																																				0.318	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		59	22	NA	NA	NA	NA	59	22	---	---	---	---
CDC20B	166979	broad.mit.edu	37	5	54442506	54442509	+	Frame_Shift_Del	DEL	GCTT	GCTT	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:54442506_54442509delGCTT	ENST00000381375.2	-	3	447_450	c.302_305delAAGC	c.(301-306)gaagctfs	p.EA101fs	CDC20B_ENST00000334206.5_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000331730.3_Frame_Shift_Del_p.EA80fs|CDC20B_ENST00000322374.6_Frame_Shift_Del_p.EA101fs|CDC20B_ENST00000296733.1_Frame_Shift_Del_p.EA101fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	101										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGATCCGGAAGCTTCTGGGAGGTA	0.529											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jpo.1		NA																	0					0						c.(301-306)GAAGCTfs		CDC20 cell division cycle 20 homolog B isoform																																				SO:0001589	frameshift_variant	166979							g.chr5:54442506_54442509delGCTT	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.302_305delAAGC	5.37:g.54442506_54442509delGCTT	ENSP00000370781:p.Glu101fs		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_uc003jpn.1_Frame_Shift_Del_p.E101fs|CDC20B_uc010ivu.1_Frame_Shift_Del_p.E101fs|CDC20B_uc010ivv.1_Frame_Shift_Del_p.E101fs|CDC20B_uc003jpp.2_RNA	p.E101fs	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	477_480	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	101_102					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Frame_Shift_Del	DEL	ENST00000381375.2	37	c.302_305delAAGC	CCDS54852.1																																																																																				0.529	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		17	60	NA	NA	NA	NA	17	60	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140480891	140480891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr5:140480891delC	ENST00000231130.2	+	1	658	c.658delC	c.(658-660)cccfs	p.P221fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	221	Cadherin 2. {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)			CGGCGGCTCTCCCCCTCGGTC	0.552																																						uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(658-660)CCCfs		protocadherin beta 3 precursor							44.0	45.0	45.0					5																	140480891		2203	4299	6502	SO:0001589	frameshift_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480891delC	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.658delC	5.37:g.140480891delC	ENSP00000231130:p.Pro221fs					uc003lin.2_Intron	p.P220fs	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	658	+			220			Extracellular (Potential).|Cadherin 2.		B2R8P2	Frame_Shift_Del	DEL	ENST00000231130.2	37	c.658delC	CCDS4245.1																																																																																				0.552	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		44	30	NA	NA	NA	NA	44	30	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820892	2820894	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:2820892_2820894delCGG	ENST00000520002.1	-	61	9862_9864	c.9307_9309delCCG	c.(9307-9309)ccgdel	p.P3103del	CSMD1_ENST00000400186.3_In_Frame_Del_p.P2926del|CSMD1_ENST00000542608.1_In_Frame_Del_p.P2925del|CSMD1_ENST00000602557.1_In_Frame_Del_p.P3103del|CSMD1_ENST00000602723.1_In_Frame_Del_p.P2926del|CSMD1_ENST00000537824.1_In_Frame_Del_p.P3102del			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3103	Sushi 25. {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)		CATTCTGCACCGGCGGCGGCTGA	0.537																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9307-9309)CCGdel		CUB and Sushi multiple domains 1 precursor																																				SO:0001651	inframe_deletion	64478					integral to membrane		g.chr8:2820892_2820894delCGG			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.9307_9309delCCG	8.37:g.2820898_2820900delCGG	ENSP00000430733:p.Pro3103del					CSMD1_uc011kwj.1_In_Frame_Del_p.P2432del|CSMD1_uc010lrg.2_In_Frame_Del_p.P994del	p.P3103del	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)	60	9697_9699	-		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)	3103			Sushi 25.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	In_Frame_Del	DEL	ENST00000520002.1	37	c.9307_9309delCCG																																																																																					0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		39	177	NA	NA	NA	NA	39	177	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19681415	19681415	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:19681415delT	ENST00000397977.3	+	7	1094	c.696delT	c.(694-696)cctfs	p.P232fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	232					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAATGTCACCTAGCAAACGTA	0.403																																						uc003wzj.2		NA																	0				ovary(1)	1						c.(694-696)CCTfs		integrator complex subunit 10							110.0	101.0	104.0					8																	19681415		1849	4093	5942	SO:0001589	frameshift_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19681415delT	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.696delT	8.37:g.19681415delT	ENSP00000381064:p.Pro232fs						p.P232fs	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	7	827	+			232					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Frame_Shift_Del	DEL	ENST00000397977.3	37	c.696delT	CCDS6011.2																																																																																				0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		29	53	NA	NA	NA	NA	29	53	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533949	55533950	+	Frame_Shift_Ins	INS	-	-	G	rs367600337	byFrequency	TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr8:55533949_55533950insG	ENST00000220676.1	+	2	571_572	c.423_424insG	c.(424-426)gtafs	p.V142fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	142					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V142I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGCCCCACCCCGTAGCCGTCGC	0.698																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(421-426)CCCGTAfs		retinitis pigmentosa RP1 protein																																				SO:0001589	frameshift_variant	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.chr8:55533949_55533950insG	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.424dupG	8.37:g.55533950_55533950dupG	ENSP00000220676:p.Val142fs					RP1_uc011ldy.1_Frame_Shift_Ins_p.P141fs	p.P141fs	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	571_572	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	141_142						Frame_Shift_Ins	INS	ENST00000220676.1	37	c.423_424insG	CCDS6160.1																																																																																				0.698	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		25	64	NA	NA	NA	NA	25	64	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136302011	136302011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chr9:136302011delG	ENST00000371929.3	+	12	1815	c.1371delG	c.(1369-1371)ccgfs	p.P457fs	ADAMTS13_ENST00000536611.1_Frame_Shift_Del_p.P129fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.P426fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.P457fs|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	457	Cysteine-rich.		P -> L (in dbSNP:rs36220240). {ECO:0000269|PubMed:12753286, ECO:0000269|Ref.6}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACGGCCAGCCGCTGCGCTCCT	0.697																																						uc004cdv.3		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(1369-1371)CCGfs		ADAM metallopeptidase with thrombospondin type 1							13.0	11.0	12.0					9																	136302011		2182	4261	6443	SO:0001589	frameshift_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136302011delG	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1371delG	9.37:g.136302011delG	ENSP00000360997:p.Pro457fs					ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Frame_Shift_Del_p.P457fs|ADAMTS13_uc004cdu.1_Frame_Shift_Del_p.P426fs|ADAMTS13_uc004cdw.3_Frame_Shift_Del_p.P457fs|ADAMTS13_uc004cdx.3_Frame_Shift_Del_p.P426fs|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Frame_Shift_Del_p.P127fs|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	p.P457fs	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	12	1815	+			457					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Frame_Shift_Del	DEL	ENST00000371929.3	37	c.1371delG	CCDS6970.1																																																																																				0.697	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		5	7	NA	NA	NA	NA	5	7	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73962264	73962265	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6869-01A-11D-1870-08	TCGA-BA-6869-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b78a2501-f312-41a2-ab19-7c18d8dfbac6	2db34c9d-a6f8-4a60-97c4-cf139a9415bb	g.chrX:73962264_73962265insA	ENST00000055682.6	-	3	2738_2739	c.2127_2128insT	c.(2125-2130)tttaagfs	p.K710fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	710					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTGGCCCCTTAAACTCTGTGT	0.431																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2125-2130)TTTAAGfs		hypothetical protein LOC340533																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962264_73962265insA		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2128dupT	X.37:g.73962267_73962267dupA	ENSP00000055682:p.Lys710fs						p.F709fs	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2744_2745	-			709_710					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.2127_2128insT	CCDS35337.1																																																																																				0.431	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		39	26	NA	NA	NA	NA	39	26	---	---	---	---
