#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CELA2A	63036	broad.mit.edu	37	1	15789243	15789243	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:15789243C>T	ENST00000359621.4	+	4	268	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAGGACCTACCGCGTGGGGC	0.612																																						uc001awk.2		NaN																	0				ovary(2)	2						c.(241-243)TAC>TAT		elastase 2A preproprotein							58.0	64.0	62.0					1																	15789243		2203	4300	6503	SO:0001819	synonymous_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789243C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.243C>T	1.37:g.15789243C>T							p.Y81Y	NM_033440	NP_254275	P08217	CEL2A_HUMAN			4	269	+			81			Peptidase S1.		B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	c.243C>T	CCDS157.1																																																																																				0.612	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1		NM_033440		43	81	0	0	0	0.039052	0	43	81		
CNKSR1	10256	broad.mit.edu	37	1	26514993	26514993	+	Splice_Site	SNP	C	C	T	rs575043860		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26514993C>T	ENST00000374253.5	+	18	1649	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Splice_Site_p.S530L|CNKSR1_ENST00000531191.1_Splice_Site_p.S272L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	537					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)		CACTCAGCCTCGGTGAGTGGG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16747	0.0		0.0	False		,,,				2504	0.001				NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NaN																	0				lung(1)|kidney(1)	2						c.(1609-1611)TCG>TTG		connector enhancer of kinase suppressor of Ras							14.0	15.0	14.0					1																	26514993		2196	4293	6489	SO:0001630	splice_region_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26514993C>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.1611+1C>T	1.37:g.26514993C>T						CNKSR1_uc001blm.3_Missense_Mutation_p.S530L|CNKSR1_uc009vsd.2_Missense_Mutation_p.S272L|CNKSR1_uc009vse.2_Missense_Mutation_p.S272L|CNKSR1_uc001blo.2_Missense_Mutation_p.S272L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	p.S537L	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)	18	1668	+		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)	537					B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.1610C>T		.	.	.	.	.	.	.	.	.	.	C	28.7	4.940803	0.92526	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.16073	2.41;2.41;2.37	5.59	5.59	0.84812	.	0.485962	0.20752	N	0.086321	T	0.32133	0.0819	L	0.50919	1.6	0.41702	D	0.989407	D;D	0.71674	0.998;0.996	P;P	0.60473	0.875;0.565	T	0.00605	-1.1648	10	0.40728	T	0.16	-10.4535	14.2724	0.66159	0.0:0.8516:0.1484:0.0	.	537;530	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	530;537;272	ENSP00000354609:S530L;ENSP00000363371:S537L;ENSP00000431817:S272L	ENSP00000354609:S530L	S	+	2	0	CNKSR1	26387580	0.327000	0.24678	1.000000	0.80357	0.959000	0.62525	1.148000	0.31614	2.639000	0.89480	0.655000	0.94253	TCG		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2		NM_006314	Missense_Mutation	7	13	0	0	0	0.038147	0	7	13		
CNKSR1	10256	broad.mit.edu	37	1	26515960	26515960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26515960C>G	ENST00000374253.5	+	21	2123	c.2084C>G	c.(2083-2085)tCc>tGc	p.S695C	CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Missense_Mutation_p.S688C|CNKSR1_ENST00000531191.1_Missense_Mutation_p.S430C	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	695					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)		TCCCCCCACTCCCTGCCCTCT	0.642																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NaN																	0				lung(1)|kidney(1)	2						c.(2083-2085)TCC>TGC		connector enhancer of kinase suppressor of Ras							133.0	135.0	134.0					1																	26515960		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26515960C>G	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.2084C>G	1.37:g.26515960C>G	ENSP00000363371:p.Ser695Cys					CNKSR1_uc001blm.3_Missense_Mutation_p.S688C|CNKSR1_uc009vsd.2_Missense_Mutation_p.S430C|CNKSR1_uc009vse.2_Missense_Mutation_p.S430C|CNKSR1_uc001blo.2_Missense_Mutation_p.S430C|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	p.S695C	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)	21	2142	+		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)	695					B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.2084C>G		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262146	0.39995	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.15256	2.44;2.44;2.44	5.08	4.09	0.47781	.	1.335400	0.04503	N	0.381480	T	0.15003	0.0362	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.09377	0.004;0.004	T	0.04870	-1.0921	10	0.54805	T	0.06	-1.5582	10.2186	0.43184	0.0:0.7813:0.1397:0.079	.	695;688	Q969H4;Q53GM7	CNKR1_HUMAN;.	C	688;695;430	ENSP00000354609:S688C;ENSP00000363371:S695C;ENSP00000431817:S430C	ENSP00000354609:S688C	S	+	2	0	CNKSR1	26388547	0.000000	0.05858	0.116000	0.21606	0.224000	0.24922	0.317000	0.19487	2.745000	0.94114	0.655000	0.94253	TCC		0.642	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2		NM_006314		42	84	0	0	0	0.11126	0	42	84		
FGR	2268	broad.mit.edu	37	1	27943478	27943478	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27943478C>G	ENST00000374005.3	-	7	860	c.572G>C	c.(571-573)aGa>aCa	p.R191T	FGR_ENST00000545953.1_Missense_Mutation_p.R125T|FGR_ENST00000374004.1_Missense_Mutation_p.R191T|FGR_ENST00000399173.1_Missense_Mutation_p.R191T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	191	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCGCCTCTGGTCTGATC	0.557																																						uc001boj.2		NaN																	0				skin(2)	2						c.(571-573)AGA>ACA		proto-oncogene tyrosine-protein kinase FGR							135.0	121.0	126.0					1																	27943478		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27943478C>G	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.572G>C	1.37:g.27943478C>G	ENSP00000363117:p.Arg191Thr					FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R191T|FGR_uc001bol.2_Missense_Mutation_p.R191T|FGR_uc001bom.2_Missense_Mutation_p.R191T	p.R191T	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	718	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	191			SH2.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.572G>C	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324060	0.41096	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.78595	-0.79;-0.75;-0.79;-0.79;-0.79;-1.19	4.38	1.79	0.24919	SH2 motif (4);	0.302624	0.26518	N	0.023935	T	0.56232	0.1971	N	0.10916	0.065	0.22754	N	0.998778	B	0.16166	0.016	B	0.19666	0.026	T	0.48937	-0.8990	10	0.46703	T	0.11	.	7.1712	0.25719	0.0:0.6305:0.0:0.3695	.	191	P09769	FGR_HUMAN	T	191;125;191;191;191;191	ENSP00000363117:R191T;ENSP00000445302:R125T;ENSP00000382126:R191T;ENSP00000363116:R191T;ENSP00000363115:R191T;ENSP00000407670:R191T	ENSP00000363115:R191T	R	-	2	0	FGR	27816065	1.000000	0.71417	0.882000	0.34594	0.981000	0.71138	4.210000	0.58500	0.475000	0.27415	0.491000	0.48974	AGA		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		50	94	0	0	0	0.048971	0	50	94		
BAI2	576	broad.mit.edu	37	1	32204223	32204223	+	Silent	SNP	C	C	T	rs140870509		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:32204223C>T	ENST00000373658.3	-	17	2951	c.2610G>A	c.(2608-2610)acG>acA	p.T870T	BAI2_ENST00000398538.1_Silent_p.T858T|BAI2_ENST00000257070.4_Silent_p.T870T|BAI2_ENST00000398547.1_Silent_p.T803T|BAI2_ENST00000527361.1_Silent_p.T870T|BAI2_ENST00000373655.2_Silent_p.T870T|BAI2_ENST00000398542.1_Silent_p.T803T|BAI2_ENST00000398556.3_Silent_p.T818T|BAI2_ENST00000440175.2_Silent_p.T512T|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	870					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T870T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AATGGGGATCCGTGGTCCCCT	0.632																																						uc001btn.2		NaN																	1	Substitution - coding silent(1)	p.T870T(1)	breast(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(2608-2610)ACG>ACA		brain-specific angiogenesis inhibitor 2		C		1,4405	2.1+/-5.4	0,1,2202	57.0	50.0	52.0		2610	-9.9	0.1	1	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAI2	NM_001703.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		870/1586	32204223	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204223C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2610G>A	1.37:g.32204223C>T						BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Silent_p.T512T|BAI2_uc010ogp.1_Silent_p.T803T|BAI2_uc010ogq.1_Silent_p.T870T|BAI2_uc001bto.2_Silent_p.T870T|BAI2_uc001btq.1_Silent_p.T803T	p.T870T	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	17	2964	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	870			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2610G>A	CCDS346.2																																																																																				0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1		NM_001703		8	13	0	0	0	0.047766	0	8	13		
GNL2	29889	broad.mit.edu	37	1	38032516	38032516	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:38032516C>G	ENST00000373062.3	-	16	2234	c.2136G>C	c.(2134-2136)aaG>aaC	p.K712N	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	712					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CATTGGTCTTCTTTTTGTTCC	0.388																																						uc001cbk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2134-2136)AAG>AAC		guanine nucleotide binding protein-like 2							250.0	233.0	239.0					1																	38032516		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38032516C>G	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.2136G>C	1.37:g.38032516C>G	ENSP00000362153:p.Lys712Asn						p.K712N	NM_013285	NP_037417	Q13823	NOG2_HUMAN			16	2299	-		Myeloproliferative disorder(586;0.0393)	712					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.2136G>C	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808929	0.70797	.	.	ENSG00000134697	ENST00000373062	T	0.28255	1.62	5.63	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.74647	2.275	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.54794	-0.8240	10	0.59425	D	0.04	-27.791	10.4316	0.44411	0.0:0.7863:0.0:0.2137	.	712	Q13823	NOG2_HUMAN	N	712	ENSP00000362153:K712N	ENSP00000362153:K712N	K	-	3	2	GNL2	37805103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.357000	0.34090	1.532000	0.49169	0.655000	0.94253	AAG		0.388	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1		NM_013285		52	108	0	0	0	0.048971	0	52	108		
DMBX1	127343	broad.mit.edu	37	1	46976774	46976774	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:46976774C>A	ENST00000360032.3	+	3	515	c.501C>A	c.(499-501)ggC>ggA	p.G167G	DMBX1_ENST00000371956.4_Silent_p.G172G	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTCTGCCTGGCAGCGACCCCC	0.662																																						uc001cpx.2		NaN																	0				ovary(1)	1						c.(514-516)GGC>GGA		diencephalon/mesencephalon homeobox 1 isoform b							51.0	62.0	58.0					1																	46976774		2203	4300	6503	SO:0001819	synonymous_variant	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976774C>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.501C>A	1.37:g.46976774C>A						DMBX1_uc001cpw.2_Silent_p.G167G	p.G172G	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			3	531	+	Acute lymphoblastic leukemia(166;0.155)		172						Silent	SNP	ENST00000360032.3	37	c.516C>A	CCDS536.1																																																																																				0.662	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1				33	114	1	0	1.36161e-19	0.069456	1.46477e-19	33	114		
HSPB11	51668	broad.mit.edu	37	1	54405716	54405716	+	Missense_Mutation	SNP	C	C	T	rs201720563	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:54405716C>T	ENST00000194214.5	-	2	429	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	HSPB11_ENST00000371377.3_Missense_Mutation_p.E14K|HSPB11_ENST00000371376.1_Missense_Mutation_p.E14K|HSPB11_ENST00000371378.2_Missense_Mutation_p.E14K	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	14					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.E14K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAAATCACTTCGGACCCTTCA	0.328													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19740	0.0		0.0	False		,,,				2504	0.001					uc001cwh.2		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(40-42)GAA>AAA		heat shock protein family B (small), member 11		C	LYS/GLU	4,3642		0,4,1819	134.0	122.0	126.0		40	5.6	1.0	1		126	1,8155		0,1,4077	yes	missense	HSPB11	NM_016126.2	56	0,5,5896	TT,TC,CC		0.0123,0.1097,0.0424	benign	14/145	54405716	5,11797	1823	4078	5901	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54405716C>T	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.40G>A	1.37:g.54405716C>T	ENSP00000194214:p.Glu14Lys					HSPB11_uc001cwi.1_Missense_Mutation_p.E14K	p.E14K	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN			2	116	-			14					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.40G>A	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007318	0.35415	0.001097	1.23E-4	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.55	5.55	0.83447	Galactose-binding domain-like (1);	0.282739	0.36854	N	0.002361	T	0.73544	0.3600	N	0.11427	0.14	0.40157	D	0.977016	D;B	0.69078	0.997;0.074	D;B	0.69824	0.966;0.009	T	0.67534	-0.5646	10	0.07325	T	0.83	-4.4241	14.8729	0.70471	0.0:1.0:0.0:0.0	.	14;14	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	14	ENSP00000194214:E14K;ENSP00000360429:E14K;ENSP00000360428:E14K;ENSP00000360427:E14K	ENSP00000194214:E14K	E	-	1	0	HSPB11	54178304	0.967000	0.33354	0.971000	0.41717	0.957000	0.61999	1.836000	0.39191	2.885000	0.99019	0.655000	0.94253	GAA		0.328	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1		NM_016126		14	31	0	0	0	0.038395	0	14	31		
LRRIQ3	127255	broad.mit.edu	37	1	74506961	74506961	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:74506961C>A	ENST00000395089.1	-	6	1653	c.1654G>T	c.(1654-1656)Gtt>Ttt	p.V552F	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.V552F			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	552										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTGCTTAACAATCAGGCTT	0.313																																						uc001dfy.3		NaN																	0				ovary(2)	2						c.(1654-1656)GTT>TTT		leucine-rich repeats and IQ motif containing 3							68.0	64.0	65.0					1																	74506961		1795	4061	5856	SO:0001583	missense	127255							g.chr1:74506961C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1654G>T	1.37:g.74506961C>A	ENSP00000378524:p.Val552Phe					LRRIQ3_uc001dfz.3_Intron	p.V552F	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1846	-			552					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1654G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758305	0.49468	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.12984	2.63;2.63	5.86	3.96	0.45880	.	.	.	.	.	T	0.10680	0.0261	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.63488	0.915	T	0.11991	-1.0565	9	0.66056	D	0.02	.	7.3292	0.26573	0.1814:0.7337:0.0:0.0849	.	552	A6PVS8	LRIQ3_HUMAN	F	552	ENSP00000378524:V552F;ENSP00000346414:V552F	ENSP00000346414:V552F	V	-	1	0	LRRIQ3	74279549	0.588000	0.26799	0.047000	0.18901	0.009000	0.06853	1.588000	0.36633	0.880000	0.35969	0.650000	0.86243	GTT		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		32	45	1	0	2.2171e-23	0.041601	2.4094e-23	32	45		
GTF2B	2959	broad.mit.edu	37	1	89323052	89323052	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:89323052G>A	ENST00000370500.5	-	6	772	c.654C>T	c.(652-654)ttC>ttT	p.F218F	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	218					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GGTTGGAACAGAACCTGGACA	0.433																																						uc001dmo.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(652-654)TTC>TTT		general transcription factor IIB							80.0	76.0	77.0					1																	89323052		2203	4300	6503	SO:0001819	synonymous_variant	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89323052G>A	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.654C>T	1.37:g.89323052G>A							p.F218F	NM_001514	NP_001505	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	6	773	-		Lung NSC(277;0.123)	218			2.		A8K1A7|Q5JS30	Silent	SNP	ENST00000370500.5	37	c.654C>T	CCDS715.1																																																																																				0.433	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1		NM_001514		26	50	0	0	0	0.083992	0	26	50		
COL11A1	1301	broad.mit.edu	37	1	103488345	103488345	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:103488345C>G	ENST00000370096.3	-	8	1510	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	COL11A1_ENST00000358392.2_Missense_Mutation_p.E412Q|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.E361Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	400	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAAATTCTTCATTAGGG	0.363																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1198-1200)GAA>CAA		alpha 1 type XI collagen isoform A							95.0	95.0	95.0					1																	103488345		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488345C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1198G>C	1.37:g.103488345C>G	ENSP00000359114:p.Glu400Gln					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E412Q|COL11A1_uc001dun.2_Missense_Mutation_p.E361Q|COL11A1_uc009weh.2_Intron	p.E400Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1516	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	400			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1198G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771873	0.49680	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88664	-2.41;-0.6;-2.38;-0.58	5.41	5.41	0.78517	.	0.060958	0.64402	D	0.000005	D	0.84615	0.5511	M	0.83953	2.67	0.42644	D	0.993429	P;P;P	0.40476	0.718;0.718;0.596	B;B;B	0.35971	0.215;0.215;0.107	D	0.84804	0.0786	10	0.18276	T	0.48	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	361;412;400	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	Q	400;412;361;412	ENSP00000359114:E400Q;ENSP00000351163:E412Q;ENSP00000302551:E361Q;ENSP00000408640:E412Q	ENSP00000302551:E361Q	E	-	1	0	COL11A1	103260933	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.050000	0.57404	2.519000	0.84933	0.643000	0.83706	GAA		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		28	81	0	0	0	0.108266	0	28	81		
ADAR	103	broad.mit.edu	37	1	154562706	154562706	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:154562706C>G	ENST00000368474.4	-	7	2649	c.2450G>C	c.(2449-2451)aGa>aCa	p.R817T	ADAR_ENST00000292205.5_Missense_Mutation_p.R860T|ADAR_ENST00000368471.3_Missense_Mutation_p.R522T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	817					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGCATAGTTCTTCTGAGACT	0.552																																						uc001ffh.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2449-2451)AGA>ACA		adenosine deaminase, RNA-specific isoform a							99.0	97.0	97.0					1																	154562706		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154562706C>G	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2450G>C	1.37:g.154562706C>G	ENSP00000357459:p.Arg817Thr					ADAR_uc001ffj.2_Intron|ADAR_uc001ffi.2_Intron|ADAR_uc001ffk.2_Missense_Mutation_p.R522T	p.R817T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	7	2650	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		817					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2450G>C	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381167	0.61845	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471	T;T;T	0.13657	2.76;2.78;2.57	5.09	5.09	0.68999	.	0.257134	0.28398	N	0.015493	T	0.03178	0.0093	N	0.14661	0.345	0.31705	N	0.640279	P	0.47409	0.895	P	0.44518	0.452	T	0.27606	-1.0069	10	0.10377	T	0.69	-21.0093	9.7252	0.40328	0.0:0.908:0.0:0.092	.	817	P55265	DSRAD_HUMAN	T	860;817;522	ENSP00000292205:R860T;ENSP00000357459:R817T;ENSP00000357456:R522T	ENSP00000292205:R860T	R	-	2	0	ADAR	152829330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.083000	0.30815	2.816000	0.96949	0.563000	0.77884	AGA		0.552	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111		33	60	0	0	0	0.074837	0	33	60		
SELP	6403	broad.mit.edu	37	1	169566333	169566333	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:169566333G>A	ENST00000263686.6	-	11	1824	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.S534F|SELP_ENST00000367786.2_Missense_Mutation_p.S534F|SELP_ENST00000367794.2_Missense_Mutation_p.S534F|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.S534F|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	596	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATGGCAGGTGGAGCCAACATT	0.498																																						uc001ggi.3		NaN																	0		p.S596T(1)		ovary(2)|skin(2)	4						c.(1786-1788)TCC>TTC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)																																			SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169566333G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1787C>T	1.37:g.169566333G>A	ENSP00000263686:p.Ser596Phe					SELP_uc001ggh.2_Missense_Mutation_p.S431F|SELP_uc009wvr.2_Missense_Mutation_p.S596F	p.S596F	NM_003005	NP_002996	P16109	LYAM3_HUMAN			11	1852	-	all_hematologic(923;0.208)		596			Extracellular (Potential).|Sushi 7.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1787C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736931	0.49045	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000080	D	0.83427	0.5252	H	0.95004	3.61	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.993	D;D;D	0.76575	0.984;0.988;0.957	D	0.86750	0.1960	10	0.51188	T	0.08	-23.7836	14.0847	0.64949	0.0:0.0:1.0:0.0	.	596;596;596	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	F	596;595;596;596;534;534;534;534;519	ENSP00000263686:S596F;ENSP00000356767:S534F;ENSP00000356768:S534F;ENSP00000356762:S534F;ENSP00000356760:S534F	ENSP00000263686:S596F	S	-	2	0	SELP	167832957	0.995000	0.38212	0.966000	0.40874	0.194000	0.23727	4.215000	0.58534	2.344000	0.79699	0.650000	0.86243	TCC		0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4		NM_003005		29	33	0	0	0	0.030593	0	29	33		
CHIT1	1118	broad.mit.edu	37	1	203194936	203194936	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:203194936G>A	ENST00000367229.1	-	3	152	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	CHIT1_ENST00000535569.1_Missense_Mutation_p.R50C|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.R40C	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	40			R -> H (in dbSNP:rs35920428).		chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R40C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCAGGAAGCGAGCCTCCCCC	0.577																																						uc001gzn.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(118-120)CGC>TGC		chitotriosidase precursor							117.0	106.0	110.0					1																	203194936		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194936G>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.118C>T	1.37:g.203194936G>A	ENSP00000356198:p.Arg40Cys					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.R50C	p.R40C	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			3	214	-			40					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.118C>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134267	0.37630	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.05925	3.37;3.37;3.37	5.12	1.91	0.25777	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.442010	0.19058	N	0.123851	T	0.22399	0.0540	M	0.89353	3.025	0.18873	N	0.999986	D;D	0.89917	1.0;1.0	P;D	0.70487	0.828;0.969	T	0.06427	-1.0827	10	0.87932	D	0	-10.0203	3.8612	0.08996	0.0879:0.1429:0.5082:0.2611	.	50;40	G5EA51;Q13231	.;CHIT1_HUMAN	C	40;40;50	ENSP00000356198:R40C;ENSP00000255427:R40C;ENSP00000438078:R50C	ENSP00000255427:R40C	R	-	1	0	CHIT1	201461559	0.000000	0.05858	0.203000	0.23512	0.977000	0.68977	0.143000	0.16115	0.529000	0.28599	0.655000	0.94253	CGC		0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465		32	52	0	0	0	0.059317	0	32	52		
NFASC	23114	broad.mit.edu	37	1	204923365	204923365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:204923365C>T	ENST00000401399.1	+	5	464	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NFASC_ENST00000403080.1_Missense_Mutation_p.R89W|NFASC_ENST00000338586.6_Missense_Mutation_p.R89W|NFASC_ENST00000367169.4_Missense_Mutation_p.R89W|NFASC_ENST00000339876.6_Missense_Mutation_p.R89W|NFASC_ENST00000338515.6_Missense_Mutation_p.R89W|NFASC_ENST00000404907.1_Missense_Mutation_p.R83W|NFASC_ENST00000404076.1_Missense_Mutation_p.R83W|NFASC_ENST00000367172.4_Missense_Mutation_p.R89W|NFASC_ENST00000539706.1_Missense_Mutation_p.R83W|NFASC_ENST00000513543.1_Missense_Mutation_p.R83W|NFASC_ENST00000360049.4_Missense_Mutation_p.R83W|NFASC_ENST00000367170.4_Missense_Mutation_p.R89W|NFASC_ENST00000367171.4_Missense_Mutation_p.R89W			O94856	NFASC_HUMAN	neurofascin	89	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAAGGACCCCCGGGTGTCCAT	0.602																																						uc001hbj.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(265-267)CGG>TGG		neurofascin isoform 1 precursor							59.0	57.0	58.0					1																	204923365		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204923365C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.265C>T	1.37:g.204923365C>T	ENSP00000385637:p.Arg89Trp					NFASC_uc001hbh.2_Missense_Mutation_p.R89W|NFASC_uc010pqz.1_Missense_Mutation_p.R83W|NFASC_uc010pra.1_Missense_Mutation_p.R83W|NFASC_uc001hbi.2_Missense_Mutation_p.R83W|NFASC_uc009xbg.1_Missense_Mutation_p.R156W|NFASC_uc010prb.1_Missense_Mutation_p.R83W|NFASC_uc010prc.1_5'UTR	p.R89W	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		6	593	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		89			Ig-like C2-type 1.|Extracellular (Potential).		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.265C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056933	0.76074	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	0.63;-0.36;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;-0.36;0.63;0.63;0.63	5.37	4.45	0.53987	.	0.152498	0.30483	N	0.009522	D	0.87450	0.6180	H	0.97365	3.99	0.51767	D	0.999934	D;D;D;D;D;D	0.89917	0.999;1.0;0.993;1.0;1.0;0.999	P;P;P;D;P;D	0.75484	0.654;0.79;0.828;0.986;0.79;0.93	D	0.91185	0.4979	10	0.87932	D	0	.	13.3808	0.60766	0.3405:0.6595:0.0:0.0	.	83;83;185;89;83;89	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	W	89;89;89;89;89;89;83;83;83;89;89;89;83;89;89;83;83;59	ENSP00000356140:R89W;ENSP00000356139:R89W;ENSP00000356138:R89W;ENSP00000342128:R89W;ENSP00000344786:R89W;ENSP00000343509:R89W;ENSP00000438614:R83W;ENSP00000353154:R83W;ENSP00000356137:R89W;ENSP00000412161:R89W;ENSP00000384875:R89W;ENSP00000385676:R83W;ENSP00000385637:R89W;ENSP00000427586:R89W;ENSP00000384061:R83W;ENSP00000425908:R83W;ENSP00000415031:R59W	ENSP00000295776:R83W	R	+	1	2	NFASC	203189988	0.927000	0.31430	1.000000	0.80357	0.997000	0.91878	2.032000	0.41127	1.262000	0.44165	-0.152000	0.13540	CGG		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388		19	53	0	0	0	0.049695	0	19	53		
ITIH2	3698	broad.mit.edu	37	10	7774363	7774363	+	Silent	SNP	G	G	A	rs537160383		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:7774363G>A	ENST00000358415.4	+	14	1876	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ITIH2_ENST00000379587.4_Silent_p.S559S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTTCTATCGAAAGACAAGC	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		17502	0.001		0.0	False		,,,				2504	0.0					uc001ijs.2		NaN																	0		p.S570L(1)		ovary(1)|pancreas(1)|skin(1)	3						c.(1708-1710)TCG>TCA		inter-alpha globulin inhibitor H2 polypeptide							98.0	87.0	91.0					10																	7774363		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7774363G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1710G>A	10.37:g.7774363G>A							p.S570S	NM_002216	NP_002207	P19823	ITIH2_HUMAN			14	1872	+			570					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1710G>A	CCDS31141.1																																																																																				0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2		NM_002216		13	43	0	0	0	0.09319	0	13	43		
TAF3	83860	broad.mit.edu	37	10	8056618	8056618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:8056618G>T	ENST00000344293.5	+	7	2900	c.2694G>T	c.(2692-2694)atG>atT	p.M898I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	898					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTGGAATCATGACTGCACCCC	0.448																																						uc010qbd.1		NaN																	0				ovary(1)	1						c.(2692-2694)ATG>ATT		RNA polymerase II transcription factor TAFII140							94.0	92.0	93.0					10																	8056618		1970	4153	6123	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8056618G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2694G>T	10.37:g.8056618G>T	ENSP00000340271:p.Met898Ile						p.M898I	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			7	2694	+			898			PHD-type.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2694G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	6.608	0.480542	0.12581	.	.	ENSG00000165632	ENST00000344293	D	0.84370	-1.84	5.1	3.23	0.37069	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.434143	0.22981	N	0.053306	T	0.64929	0.2643	N	0.03238	-0.38	0.20074	N	0.999938	B	0.14805	0.011	B	0.15870	0.014	T	0.53989	-0.8360	10	0.33940	T	0.23	-15.5991	6.6031	0.22710	0.1501:0.0:0.706:0.1439	.	898	Q5VWG9	TAF3_HUMAN	I	898	ENSP00000340271:M898I	ENSP00000340271:M898I	M	+	3	0	TAF3	8096624	0.017000	0.18338	0.259000	0.24435	0.323000	0.28346	0.568000	0.23623	0.651000	0.30788	0.555000	0.69702	ATG		0.448	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1		NM_031923		3	18	1	0	6.4e-05	0.004672	6.46066e-05	3	18		
PTCHD3	374308	broad.mit.edu	37	10	27688159	27688159	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:27688159G>A	ENST00000438700.3	-	4	1485	c.1368C>T	c.(1366-1368)gtC>gtT	p.V456V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	456	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACATGTCATCGACCCCAACAC	0.358																																						uc001itu.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1366-1368)GTC>GTT		patched domain containing 3							46.0	41.0	43.0					10																	27688159		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688159G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1368C>T	10.37:g.27688159G>A							p.V456V	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1486	-			456			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1368C>T	CCDS31173.1																																																																																				0.358	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3		XM_370541		18	30	0	0	0	0.055883	0	18	30		
ADAMTS14	140766	broad.mit.edu	37	10	72517796	72517796	+	Missense_Mutation	SNP	G	G	A	rs146237817	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:72517796G>A	ENST00000373207.1	+	20	3016	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E1009K	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGGCATTGCGAGGGGGATAG	0.667																																						uc001jrh.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3016-3018)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	46.0	43.0	44.0		3016,3025	3.4	0.3	10	dbSNP_134	44	12,8588	8.4+/-32.0	0,12,4288	yes	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	56,56	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	benign,benign	1006/1224,1009/1227	72517796	12,12994	2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72517796G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3016G>A	10.37:g.72517796G>A	ENSP00000362303:p.Glu1006Lys					ADAMTS14_uc001jrg.2_Missense_Mutation_p.E1009K	p.E1006K	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			20	3016	+			1006			TSP type-1 4.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3016G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729374	0.30684	0.0	0.001395	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.52983	0.64;0.64	4.34	3.44	0.39384	.	0.204718	0.39759	N	0.001270	T	0.36331	0.0963	L	0.45581	1.43	0.32967	D	0.521876	P;P	0.48089	0.905;0.513	B;B	0.40782	0.34;0.112	T	0.47497	-0.9113	10	0.21540	T	0.41	.	8.9173	0.35590	0.0853:0.1498:0.7649:0.0	.	1006;1009	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	K	1009;1006	ENSP00000362304:E1009K;ENSP00000362303:E1006K	ENSP00000362303:E1006K	E	+	1	0	ADAMTS14	72187802	1.000000	0.71417	0.323000	0.25347	0.308000	0.27856	5.523000	0.67099	1.046000	0.40249	0.561000	0.74099	GAG		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		6	79	0	0	0	0.021553	0	6	79		
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:75011600G>A	ENST00000372945.3	-	2	405	c.195C>T	c.(193-195)ctC>ctT	p.L65L	RP11-152N13.5_ENST00000457147.1_RNA|DNAJC9_ENST00000372950.4_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA|RP11-152N13.5_ENST00000394864.2_RNA|MRPS16_ENST00000416782.2_Silent_p.L65L|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Silent_p.L65L|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000493787.1_5'Flank	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	65					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537																																						uc001jts.1		NaN																	0					0						c.(193-195)CTC>CTT		mitochondrial ribosomal protein S16 precursor							120.0	114.0	116.0					10																	75011600		2203	4300	6503	SO:0001819	synonymous_variant	51021				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr10:75011600G>A	AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"""Mitochondrial ribosomal proteins / small subunits"""	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.195C>T	10.37:g.75011600G>A						DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank	p.L65L	NM_016065	NP_057149	Q9Y3D3	RT16_HUMAN			2	406	-	Prostate(51;0.0119)		65					B4E032|Q96Q60	Silent	SNP	ENST00000372945.3	37	c.195C>T	CCDS7323.1																																																																																				0.537	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048616.1				50	113	0	0	0	0.048971	0	50	113		
LIPF	8513	broad.mit.edu	37	10	90427424	90427424	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:90427424G>A	ENST00000238983.4	+	3	250	c.204G>A	c.(202-204)aaG>aaA	p.K68K	LIPF_ENST00000355843.2_Silent_p.K78K|LIPF_ENST00000608620.1_Silent_p.K68K|LIPF_ENST00000394375.3_Silent_p.K78K	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	68					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTTATGGGAAGAAAAATTCAG	0.348																																						uc001kfg.1		NaN																	0					0						c.(202-204)AAG>AAA		lipase, gastric precursor							77.0	92.0	87.0					10																	90427424		2203	4295	6498	SO:0001819	synonymous_variant	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90427424G>A	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.204G>A	10.37:g.90427424G>A						LIPF_uc009xtk.2_Silent_p.K68K|LIPF_uc001kfh.1_Silent_p.K78K|LIPF_uc010qmt.1_Silent_p.K78K|LIPF_uc010qmu.1_Silent_p.K68K	p.K68K	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	3	370	+		Colorectal(252;0.0161)	68					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	c.204G>A	CCDS7389.1																																																																																				0.348	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1				25	55	0	0	0	0.108266	0	25	55		
DMBT1	1755	broad.mit.edu	37	10	124348479	124348479	+	Silent	SNP	C	C	T	rs200439469	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:124348479C>T	ENST00000338354.3	+	17	1909	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	DMBT1_ENST00000344338.3_Silent_p.A591A|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Silent_p.A591A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Silent_p.A601A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	601					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)				CCAGTTTGGCCCTGAGGCTGG	0.542													C|||	3	0.000599042	0.0	0.0	5008	,	,		21580	0.0		0.003	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(1801-1803)GCC>GCT		deleted in malignant brain tumors 1 isoform b		C	,,	2,3938		0,2,1968	364.0	264.0	297.0		,1803,1773	-3.8	0.2	10		297	21,8189		4,13,4088	no	intron,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	4,15,6056	TT,TC,CC		0.2558,0.0508,0.1893	,,	,601/2414,591/2404	124348479	23,12127	1970	4105	6075	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.chr10:124348479C>T		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.1803C>T	10.37:g.124348479C>T						DMBT1_uc001lgl.1_Silent_p.A591A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A601A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.A601A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			17	1909	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	601					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.1803C>T																																																																																					0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		8	5	0	0	0	0.047766	0	8	5		
MUC5B	727897	broad.mit.edu	37	11	1267503	1267503	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:1267503G>A	ENST00000529681.1	+	31	9451	c.9393G>A	c.(9391-9393)acG>acA	p.T3131T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3134T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3131	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3110T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCGGGGACGACCTGGATCC	0.657																																						uc009ycr.1		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(11140-11142)ACG>ACA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							72.0	94.0	87.0					11																	1267503		2065	4188	6253	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267503G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9393G>A	11.37:g.1267503G>A						MUC5B_uc001ltb.2_Silent_p.T3134T	p.T3714T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11268	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3131	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11142G>A	CCDS44515.2																																																																																				0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		58	134	0	0	0	0.048971	0	58	134		
LGR4	55366	broad.mit.edu	37	11	27398722	27398722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:27398722G>T	ENST00000379214.4	-	12	1535	c.1092C>A	c.(1090-1092)tgC>tgA	p.C364*	LGR4_ENST00000389858.4_Nonsense_Mutation_p.C340*	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	364					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCAGAGCATGGCAACCATTAA	0.308																																						uc001mrj.3		NaN																	0				ovary(1)	1						c.(1090-1092)TGC>TGA		leucine-rich repeat-containing G protein-coupled							127.0	123.0	124.0					11																	27398722		2202	4299	6501	SO:0001587	stop_gained	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27398722G>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1092C>A	11.37:g.27398722G>T	ENSP00000368516:p.Cys364*					LGR4_uc001mrk.3_Nonsense_Mutation_p.C340*	p.C364*	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			12	1577	-			364			Extracellular (Potential).|LRR 12.		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Nonsense_Mutation	SNP	ENST00000379214.4	37	c.1092C>A	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	37	6.312515	0.97467	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	.	.	.	5.98	2.63	0.31362	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0087	0.41972	0.249:0.0:0.751:0.0	.	.	.	.	X	364;340	.	ENSP00000368516:C364X	C	-	3	2	LGR4	27355298	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.037000	0.49775	0.248000	0.21435	-0.150000	0.13652	TGC		0.308	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1		NM_018490		28	47	1	0	5.77227e-19	0.037714	6.17836e-19	28	47		
TMX2	51075	broad.mit.edu	37	11	57505121	57505121	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:57505121G>A	ENST00000278422.4	+	2	243	c.231G>A	c.(229-231)atG>atA	p.M77I	TMX2_ENST00000378312.4_Missense_Mutation_p.M77I|TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.M77I	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	77					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CCATTGTGATGATGAAGAACC	0.433																																						uc001nlc.1		NaN																	0					0						c.(229-231)ATG>ATA		thioredoxin domain containing 14 isoform 1							154.0	141.0	146.0					11																	57505121		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57505121G>A	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.231G>A	11.37:g.57505121G>A	ENSP00000278422:p.Met77Ile					CTNND1_uc001nlf.1_5'UTR|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.M77I	p.M77I	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN			2	280	+			77			Extracellular (Potential).		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.231G>A	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323311	0.95708	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.48836	0.8	6.16	6.16	0.99307	.	0.000000	0.85682	U	0.000000	T	0.61123	0.2322	M	0.78049	2.395	0.80722	D	1	P;P	0.45569	0.831;0.861	P;B	0.46299	0.511;0.297	T	0.64262	-0.6449	10	0.72032	D	0.01	-29.8168	20.4549	0.99139	0.0:0.0:1.0:0.0	.	77;77	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	I	77	ENSP00000367562:M77I	ENSP00000436274:M77I	M	+	3	0	TMX2	57261697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.301000	0.96167	2.937000	0.99478	0.650000	0.86243	ATG		0.433	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1		NM_015959		13	32	0	0	0	0.024245	0	13	32		
CD5	921	broad.mit.edu	37	11	60892591	60892591	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:60892591C>A	ENST00000347785.3	+	9	1533	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	456					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TACAGCCAACCTCCCAGGAAC	0.617																																						uc009ynk.2		NaN																	0				ovary(1)	1						c.(1366-1368)CCT>CAT		CD5 molecule precursor							144.0	111.0	122.0					11																	60892591		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892591C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1367C>A	11.37:g.60892591C>A	ENSP00000342681:p.Pro456His						p.P456H	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1470	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	456			Cytoplasmic (Potential).		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1367C>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544548	0.65198	.	.	ENSG00000110448	ENST00000347785	T	0.30182	1.54	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000029	T	0.44540	0.1298	L	0.34521	1.04	0.43172	D	0.994979	D	0.89917	1.0	D	0.91635	0.999	T	0.42548	-0.9445	10	0.87932	D	0	-18.2023	14.1174	0.65164	0.0:1.0:0.0:0.0	.	456	P06127	CD5_HUMAN	H	456	ENSP00000342681:P456H	ENSP00000342681:P456H	P	+	2	0	CD5	60649167	1.000000	0.71417	0.998000	0.56505	0.661000	0.39034	4.004000	0.57068	2.474000	0.83562	0.462000	0.41574	CCT		0.617	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2		NM_014207		22	39	1	0	3.10358e-05	0.069288	3.14792e-05	22	39		
GDPD4	220032	broad.mit.edu	37	11	76944073	76944073	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944073G>A	ENST00000376217.2	-	13	1636	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	GDPD4_ENST00000315938.4_Silent_p.F462F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	462					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						AGCTCACCATGAAGAAGTGAG	0.557																																						uc001oyf.2		NaN																	0				skin(1)	1						c.(1384-1386)TTC>TTT		glycerophosphodiester phosphodiesterase domain							115.0	100.0	105.0					11																	76944073		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76944073G>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.1386C>T	11.37:g.76944073G>A							p.F462F	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			13	1637	-			462			Extracellular (Potential).		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.1386C>T																																																																																					0.557	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1		NM_182833		13	43	0	0	0	0.069456	0	13	43		
GDPD4	220032	broad.mit.edu	37	11	76944076	76944076	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944076G>A	ENST00000376217.2	-	13	1633	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	GDPD4_ENST00000315938.4_Silent_p.F461F			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	461					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						TCACCATGAAGAAGTGAGGGT	0.547																																						uc001oyf.2		NaN																	0				skin(1)	1						c.(1381-1383)TTC>TTT		glycerophosphodiester phosphodiesterase domain							119.0	103.0	108.0					11																	76944076		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76944076G>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.1383C>T	11.37:g.76944076G>A							p.F461F	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			13	1634	-			461			Extracellular (Potential).		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.1383C>T																																																																																					0.547	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1		NM_182833		13	43	0	0	0	0.074837	0	13	43		
GDPD4	220032	broad.mit.edu	37	11	76944087	76944087	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944087G>A	ENST00000376217.2	-	13	1622	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	GDPD4_ENST00000315938.4_Missense_Mutation_p.H458Y			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	458					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						AAGTGAGGGTGATCAAGCTGA	0.537																																						uc001oyf.2		NaN																	0				skin(1)	1						c.(1372-1374)CAC>TAC		glycerophosphodiester phosphodiesterase domain							137.0	116.0	123.0					11																	76944087		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76944087G>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.1372C>T	11.37:g.76944087G>A	ENSP00000365390:p.His458Tyr						p.H458Y	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			13	1623	-			458			Extracellular (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.1372C>T		.	.	.	.	.	.	.	.	.	.	G	7.999	0.754888	0.15846	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.49720	0.77;0.77	6.02	0.622	0.17648	.	0.571012	0.19723	N	0.107543	T	0.26011	0.0634	L	0.33339	1.005	0.09310	N	1	B	0.17667	0.023	B	0.19946	0.027	T	0.27673	-1.0067	10	0.02654	T	1	-1.6638	4.7406	0.13010	0.3174:0.0:0.5451:0.1375	.	458	Q6W3E5-2	.	Y	458	ENSP00000365390:H458Y;ENSP00000320815:H458Y	ENSP00000320815:H458Y	H	-	1	0	GDPD4	76621735	0.021000	0.18746	0.009000	0.14445	0.812000	0.45895	1.312000	0.33574	0.107000	0.17824	0.650000	0.86243	CAC		0.537	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1		NM_182833		18	43	0	0	0	0.09836	0	18	43		
MMP8	4317	broad.mit.edu	37	11	102586120	102586120	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:102586120A>G	ENST00000236826.3	-	7	1049	c.951T>C	c.(949-951)ttT>ttC	p.F317F		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	317					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ATAGAGAAATAAAATTCATTT	0.383																																						uc001phe.2		NaN																	0				ovary(3)|breast(1)	4						c.(949-951)TTT>TTC		matrix metalloproteinase 8 preproprotein							103.0	94.0	97.0					11																	102586120		2203	4299	6502	SO:0001819	synonymous_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102586120A>G	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.951T>C	11.37:g.102586120A>G						MMP8_uc010rut.1_Silent_p.F252F|MMP8_uc010ruu.1_Silent_p.F294F	p.F317F	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	7	1050	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	317			Hemopexin-like 1.		Q45F99	Silent	SNP	ENST00000236826.3	37	c.951T>C	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	A	4.713	0.132620	0.09032	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.38	-7.92	0.01160	.	.	.	.	.	T	0.47893	0.1470	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.54476	-0.8288	4	.	.	.	.	8.6408	0.33976	0.461:0.2328:0.3062:0.0	.	.	.	.	H	293	.	.	Y	-	1	0	MMP8	102091330	0.000000	0.05858	0.003000	0.11579	0.052000	0.14988	-2.509000	0.00960	-1.197000	0.02673	-0.361000	0.07541	TAT		0.383	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1		NM_002424		18	16	0	0	0	0.0333	0	18	16		
RPH3A	22895	broad.mit.edu	37	12	113325677	113325677	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113325677G>A	ENST00000389385.4	+	17	2009	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	RPH3A_ENST00000543106.2_Silent_p.L504L|RPH3A_ENST00000551052.1_Silent_p.L500L|RPH3A_ENST00000415485.3_Silent_p.L504L|RPH3A_ENST00000548866.1_Silent_p.L455L|RPH3A_ENST00000447659.2_Silent_p.L455L|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.L504L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	504					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCAAGAAACTGAAGCCCAACC	0.502																																						uc010syl.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1510-1512)CTG>CTA		rabphilin 3A homolog isoform 1							157.0	161.0	159.0					12																	113325677		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113325677G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1512G>A	12.37:g.113325677G>A						RPH3A_uc001ttz.2_Silent_p.L504L|RPH3A_uc001tty.2_Silent_p.L500L|RPH3A_uc009zwe.1_Silent_p.L500L|RPH3A_uc010sym.1_Silent_p.L455L|RPH3A_uc001tua.2_Silent_p.L264L	p.L504L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	17	1874	+			504					B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.1512G>A	CCDS44979.1																																																																																				0.502	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954		63	198	0	0	0	0.048971	0	63	198		
DTX1	1840	broad.mit.edu	37	12	113515459	113515459	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113515459C>T	ENST00000257600.3	+	2	993	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	164	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCGCCAGAcgcgccggcgccg	0.677																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(490-492)CGC>TGC		deltex homolog 1							29.0	22.0	24.0					12																	113515459		2199	4295	6494	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515459C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.490C>T	12.37:g.113515459C>T	ENSP00000257600:p.Arg164Cys						p.R164C	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	826	+			164			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.490C>T	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869802	0.72065	.	.	ENSG00000135144	ENST00000257600	T	0.29655	1.56	3.32	2.39	0.29439	WWE domain (2);WWE domain, subgroup (1);	0.337915	0.27941	U	0.017224	T	0.23451	0.0567	N	0.24115	0.695	0.47547	D	0.999457	P	0.50710	0.938	P	0.45099	0.469	T	0.02288	-1.1182	10	0.66056	D	0.02	-12.3275	11.0069	0.47639	0.0:0.8077:0.1923:0.0	.	164	Q86Y01	DTX1_HUMAN	C	164	ENSP00000257600:R164C	ENSP00000257600:R164C	R	+	1	0	DTX1	111999842	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	5.370000	0.66144	0.326000	0.23384	0.205000	0.17691	CGC		0.677	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2				6	22	0	0	0	0.038147	0	6	22		
SLC8B1	80024	broad.mit.edu	37	12	113742153	113742153	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113742153C>T	ENST00000552014.1	-	16	2045	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	SLC8B1_ENST00000550047.1_Silent_p.Q25Q|SLC8B1_ENST00000546737.1_Silent_p.Q454Q|SLC8B1_ENST00000202831.3_Silent_p.Q510Q|SLC8B1_ENST00000549069.1_Silent_p.Q69Q			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	510					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TTCGGGAGATCTGGAGCAGGC	0.542																																						uc001tvc.2		NaN																	0				central_nervous_system(1)	1						c.(1528-1530)CAG>CAA		solute carrier family 24 member 6 precursor							119.0	117.0	118.0					12																	113742153		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113742153C>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1530G>A	12.37:g.113742153C>T						SLC24A6_uc001tuz.2_Silent_p.Q215Q|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.Q248Q	p.Q510Q	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			15	1740	-			510			Cytoplasmic (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1530G>A	CCDS31909.1																																																																																				0.542	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3		NM_024959		48	182	0	0	0	0.048971	0	48	182		
NBEA	26960	broad.mit.edu	37	13	35731303	35731303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:35731303G>T	ENST00000400445.3	+	21	3274	c.2740G>T	c.(2740-2742)Gaa>Taa	p.E914*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.E914*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.E914*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.E914*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	914					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGATTACCGAAATGGTCTA	0.408																																						uc001uvb.2		NaN																	0				ovary(9)|large_intestine(2)	11						c.(2740-2742)GAA>TAA		neurobeachin							124.0	122.0	123.0					13																	35731303		1822	4082	5904	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35731303G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2740G>T	13.37:g.35731303G>T	ENSP00000383295:p.Glu914*						p.E914*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	2946	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	914					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.2740G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	47	13.141933	0.99723	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.37	5.37	0.77165	.	0.057577	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	.	.	.	X	914	.	ENSP00000308534:E914X	E	+	1	0	NBEA	34629303	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	9.813000	0.99286	2.689000	0.91719	0.650000	0.86243	GAA		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		37	76	1	0	1.84765e-07	0.064281	1.89206e-07	37	76		
PCDH8	5100	broad.mit.edu	37	13	53421499	53421499	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:53421499G>A	ENST00000377942.3	-	1	1276	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	PCDH8_ENST00000338862.4_Missense_Mutation_p.P358L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	358					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGGCCAGCGGGGTGATGGC	0.761																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(1072-1074)CCG>CTG		protocadherin 8 isoform 1 precursor							11.0	9.0	10.0					13																	53421499		1923	3880	5803	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421499G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1073C>T	13.37:g.53421499G>A	ENSP00000367177:p.Pro358Leu					PCDH8_uc001vhj.2_Missense_Mutation_p.P358L	p.P358L	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1276	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	358			Extracellular (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1073C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507366	0.64410	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.54866	0.55;0.55	4.5	4.5	0.54988	.	0.000000	0.43747	D	0.000527	T	0.52661	0.1748	N	0.08118	0	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.91	T	0.63730	-0.6571	10	0.87932	D	0	.	14.7539	0.69549	0.0:0.0:1.0:0.0	.	358;358	O95206-2;O95206	.;PCDH8_HUMAN	L	358	ENSP00000367177:P358L;ENSP00000341350:P358L	ENSP00000341350:P358L	P	-	2	0	PCDH8	52319500	.	.	0.995000	0.50966	0.948000	0.59901	.	.	2.338000	0.79540	0.561000	0.74099	CCG		0.761	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		8	14	0	0	0	0.047766	0	8	14		
KLF5	688	broad.mit.edu	37	13	73649881	73649881	+	Missense_Mutation	SNP	G	G	T	rs144543104		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649881G>T	ENST00000377687.4	+	4	1767	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	KLF5_ENST00000539231.1_Missense_Mutation_p.D320Y	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	411					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAAGGCTGCGACTGGAGGTT	0.577																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1231-1233)GAC>TAC		Kruppel-like factor 5							104.0	103.0	103.0					13																	73649881		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649881G>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1231G>T	13.37:g.73649881G>T	ENSP00000366915:p.Asp411Tyr					KLF5_uc001vjd.2_Missense_Mutation_p.D320Y	p.D411Y	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1555	+		Prostate(6;0.00187)|Breast(118;0.0735)	411			C2H2-type 2.		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.1231G>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161626	0.78226	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.71222	-0.55;-0.55	6.07	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.103168	0.64402	D	0.000004	D	0.82981	0.5155	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.85055	0.0931	10	0.72032	D	0.01	.	17.3454	0.87308	0.0:0.125:0.875:0.0	.	411	Q13887	KLF5_HUMAN	Y	320;411;391	ENSP00000440407:D320Y;ENSP00000366915:D411Y	ENSP00000366915:D411Y	D	+	1	0	KLF5	72547882	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	1.537000	0.49254	0.655000	0.94253	GAC		0.577	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				54	137	1	0	9.90819e-18	0.048971	1.04997e-17	54	137		
KLF5	688	broad.mit.edu	37	13	73649892	73649892	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649892C>T	ENST00000377687.4	+	4	1778	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	KLF5_ENST00000539231.1_Silent_p.F323F	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	414					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACTGGAGGTTCGCGCGATCGG	0.582																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1240-1242)TTC>TTT		Kruppel-like factor 5							86.0	85.0	85.0					13																	73649892		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649892C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1242C>T	13.37:g.73649892C>T						KLF5_uc001vjd.2_Silent_p.F323F	p.F414F	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1566	+		Prostate(6;0.00187)|Breast(118;0.0735)	414			C2H2-type 2.		L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1242C>T	CCDS9448.1																																																																																				0.582	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				43	108	0	0	0	0.11126	0	43	108		
ABCC4	10257	broad.mit.edu	37	13	95813572	95813572	+	Missense_Mutation	SNP	C	C	T	rs146708960		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:95813572C>T	ENST00000376887.4	-	19	2440	c.2326G>A	c.(2326-2328)Gtt>Att	p.V776I	ABCC4_ENST00000431522.1_Missense_Mutation_p.V776I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V729I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V701I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	776	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type). {ECO:0000269|PubMed:18300232}.		blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCAAAAAGAACGGTAGCTACA	0.358																																						uc001vmd.3		NaN																	0				central_nervous_system(3)|skin(1)	4						c.(2326-2328)GTT>ATT		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	75.0	75.0	75.0		2326,2326	2.8	0.0	13	dbSNP_134	75	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	ABCC4	NM_001105515.1,NM_005845.3	29,29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign	776/860,776/1326	95813572	5,13001	2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95813572C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2326G>A	13.37:g.95813572C>T	ENSP00000366084:p.Val776Ile					ABCC4_uc010afk.2_Missense_Mutation_p.V729I|ABCC4_uc001vme.2_Missense_Mutation_p.V776I|ABCC4_uc010tih.1_Missense_Mutation_p.V701I	p.V776I	NM_005845	NP_005836	O15439	MRP4_HUMAN			19	2445	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		776		V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type).	ABC transmembrane type-1 2.|Helical; (Potential).		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2326G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	0.537	-0.855496	0.02630	0.0	5.81E-4	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.45	2.78	0.32641	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.172404	0.50627	D	0.000109	T	0.72637	0.3485	N	0.13043	0.29	0.21473	N	0.999672	B;B;B;B	0.15719	0.003;0.005;0.014;0.006	B;B;B;B	0.18263	0.021;0.005;0.013;0.012	T	0.56780	-0.7922	10	0.02654	T	1	.	5.4814	0.16725	0.129:0.598:0.0:0.273	.	701;729;776;776	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	729;776;701;776	ENSP00000388657:V729I;ENSP00000366084:V776I;ENSP00000442024:V701I;ENSP00000398562:V776I	ENSP00000366084:V776I	V	-	1	0	ABCC4	94611573	0.085000	0.21516	0.044000	0.18714	0.188000	0.23474	0.415000	0.21181	0.345000	0.23873	0.650000	0.86243	GTT		0.358	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845		10	39	0	0	0	0.058154	0	10	39		
COL4A1	1282	broad.mit.edu	37	13	110830437	110830437	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:110830437C>T	ENST00000375820.4	-	32	2721	c.2600G>A	c.(2599-2601)gGg>gAg	p.G867E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	867	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCAGGAGCCCCCTGCTGTCC	0.547																																						uc001vqw.3		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2599-2601)GGG>GAG		alpha 1 type IV collagen preproprotein							66.0	76.0	72.0					13																	110830437		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110830437C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2600G>A	13.37:g.110830437C>T	ENSP00000364979:p.Gly867Glu					COL4A1_uc010agl.2_Intron	p.G867E	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		32	2722	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	867			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2600G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413283	0.62511	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99619	-6.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96891	0.9653	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	867	P02462	CO4A1_HUMAN	E	510;867;516	ENSP00000364979:G867E	ENSP00000364973:G510E	G	-	2	0	COL4A1	109628438	1.000000	0.71417	0.689000	0.30133	0.193000	0.23685	6.537000	0.73847	2.595000	0.87683	0.655000	0.94253	GGG		0.547	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3				50	109	0	0	0	0.048971	0	50	109		
RNASE3	6037	broad.mit.edu	37	14	21359944	21359944	+	Silent	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:21359944G>T	ENST00000304639.3	+	2	157	c.99G>T	c.(97-99)acG>acT	p.T33T		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	33	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CACAGTTTACGAGGGCTCAGT	0.507																																						uc001vyj.2		NaN																	0					0						c.(97-99)ACG>ACT		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						103.0	111.0	108.0					14																	21359944		2191	4300	6491	SO:0001819	synonymous_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21359944G>T	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.99G>T	14.37:g.21359944G>T							p.T33T	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	153	+	all_cancers(95;0.00453)		33					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Silent	SNP	ENST00000304639.3	37	c.99G>T	CCDS9560.1																																																																																				0.507	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2		NM_002935		47	109	1	0	3.70713e-34	0.048971	4.0702e-34	47	109		
NOP9	161424	broad.mit.edu	37	14	24769970	24769970	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:24769970C>T	ENST00000267425.3	+	2	697	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.H202Y	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	202							poly(A) RNA binding (GO:0044822)										TGGAGACACACATGGCAGCTT	0.547																																						uc001wol.1		NaN																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(604-606)CAT>TAT		hypothetical protein LOC161424							150.0	136.0	141.0					14																	24769970		2203	4300	6503	SO:0001583	missense	161424						RNA binding	g.chr14:24769970C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.604C>T	14.37:g.24769970C>T	ENSP00000267425:p.His202Tyr					C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	p.H202Y	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	2	667	+			202			Pumilio 2.		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.604C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018109	0.19355	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.11712	2.75;2.75	5.01	4.02	0.46733	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	L	0.33137	0.985	0.45502	D	0.998467	B	0.10296	0.003	B	0.10450	0.005	T	0.10019	-1.0648	10	0.02654	T	1	-5.6786	12.046	0.53480	0.0:0.9077:0.0:0.0923	.	202	Q86U38	CN021_HUMAN	Y	202	ENSP00000267425:H202Y;ENSP00000380020:H202Y	ENSP00000267425:H202Y	H	+	1	0	C14orf21	23839810	0.999000	0.42202	0.990000	0.47175	0.997000	0.91878	1.855000	0.39378	1.150000	0.42419	0.655000	0.94253	CAT		0.547	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2				54	107	0	0	0	0.048971	0	54	107		
ARHGAP5	394	broad.mit.edu	37	14	32561150	32561150	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:32561150G>C	ENST00000345122.3	+	2	1590	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K425N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K425N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K425N|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	425					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCGAGAAGAGGAGGGTGG	0.393																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1273-1275)AAG>AAC		Rho GTPase activating protein 5 isoform b							62.0	66.0	65.0					14																	32561150		2194	4292	6486	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561150G>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1275G>C	14.37:g.32561150G>C	ENSP00000371897:p.Lys425Asn					ARHGAP5_uc001wrm.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wrn.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.K425N	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1514	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		425					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1275G>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714453	0.30413	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.78	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	L	0.44542	1.39	0.58432	D	0.999997	D;P	0.55172	0.97;0.949	P;P	0.60789	0.879;0.76	T	0.00411	-1.1756	10	0.72032	D	0.01	.	8.5911	0.33688	0.4853:0.0:0.5147:0.0	.	425;425	Q13017-2;Q13017	.;RHG05_HUMAN	N	425	ENSP00000452222:K425N;ENSP00000441692:K425N;ENSP00000371897:K425N;ENSP00000393307:K425N	ENSP00000371897:K425N	K	+	3	2	ARHGAP5	31630901	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.060000	0.30530	0.236000	0.21180	0.557000	0.71058	AAG		0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		38	58	0	0	0	0.069456	0	38	58		
PPM1A	5494	broad.mit.edu	37	14	60750068	60750068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:60750068C>T	ENST00000395076.4	+	2	1077	c.647C>T	c.(646-648)tCa>tTa	p.S216L	PPM1A_ENST00000325658.3_Missense_Mutation_p.S216L|PPM1A_ENST00000529574.1_Missense_Mutation_p.S216L|PPM1A_ENST00000325642.3_Missense_Mutation_p.S289L	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	216					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CAGCTTGTCTCACCAGAGCCT	0.443																																						uc010apn.2		NaN																	0				skin(1)	1						c.(646-648)TCA>TTA		protein phosphatase 1A isoform 1							147.0	133.0	137.0					14																	60750068		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60750068C>T	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.647C>T	14.37:g.60750068C>T	ENSP00000378514:p.Ser216Leu					PPM1A_uc001xew.3_Missense_Mutation_p.S289L|PPM1A_uc001xex.3_Missense_Mutation_p.S216L|PPM1A_uc001xey.3_Missense_Mutation_p.S216L	p.S216L	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	1049	+			216					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.647C>T	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779898	0.90195	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.954;0.996;0.988	T	0.65393	-0.6179	10	0.87932	D	0	-3.1565	19.8148	0.96562	0.0:1.0:0.0:0.0	.	216;216;216	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	L	289;216;216;216	ENSP00000327255:S289L;ENSP00000432966:S216L;ENSP00000378514:S216L;ENSP00000314850:S216L	ENSP00000327255:S289L	S	+	2	0	PPM1A	59819821	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.585000	0.79938	TCA		0.443	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2		NM_021003		55	112	0	0	0	0.048971	0	55	112		
ZFP36L1	677	broad.mit.edu	37	14	69256761	69256761	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:69256761T>C	ENST00000439696.2	-	2	807	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.Y169C	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	169					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCGGGGCCCGTAGGGGCAAAA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	0				ovary(1)	1						c.(505-507)TAC>TGC		butyrate response factor 1							37.0	43.0	41.0					14																	69256761		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256761T>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.506A>G	14.37:g.69256761T>C	ENSP00000388402:p.Tyr169Cys		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.Y169C	p.Y169C	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	636	-			169			C3H1-type 2.		Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.506A>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293057	0.60086	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.5	3.34	0.38264	Zinc finger, CCCH-type (3);	0.379769	0.24436	N	0.038549	T	0.79736	0.4497	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81803	-0.0765	10	0.87932	D	0	0.6589	10.0498	0.42208	0.0:0.0803:0.0:0.9197	.	169	Q07352	TISB_HUMAN	C	169;169;152;175;147	ENSP00000388402:Y169C;ENSP00000337386:Y169C;ENSP00000450784:Y175C;ENSP00000450600:Y147C	ENSP00000337386:Y169C	Y	-	2	0	ZFP36L1	68326514	1.000000	0.71417	0.818000	0.32626	0.995000	0.86356	5.009000	0.63998	0.743000	0.32719	0.477000	0.44152	TAC		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				38	83	0	0	0	0.042209	0	38	83		
SYNE3	161176	broad.mit.edu	37	14	95884264	95884264	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:95884264G>A	ENST00000334258.5	-	17	2841	c.2827C>T	c.(2827-2829)Ctg>Ttg	p.L943L	SYNE3_ENST00000554873.1_Silent_p.L700L|SYNE3_ENST00000557275.1_Silent_p.L938L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	943	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						ATTGGGagcaggaacagcagg	0.647																																						uc001yei.3		NaN																	0				central_nervous_system(1)	1						c.(2827-2829)CTG>TTG		nesprin-3							98.0	89.0	92.0					14																	95884264		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95884264G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2827C>T	14.37:g.95884264G>A						C14orf49_uc010avi.2_Silent_p.L938L	p.L943L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	17	2842	-		all_cancers(154;0.0937)	943			Helical; Anchor for type IV membrane protein; (Potential).|KASH.		A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2827C>T	CCDS9935.1																																																																																				0.647	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2		NM_152592		47	74	0	0	0	0.048971	0	47	74		
HHIPL1	84439	broad.mit.edu	37	14	100118593	100118593	+	Silent	SNP	C	C	T	rs142575301		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:100118593C>T	ENST00000330710.5	+	2	386	c.288C>T	c.(286-288)gaC>gaT	p.D96D	HHIPL1_ENST00000357223.2_Silent_p.D96D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	96					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACCTCTATGACGCCGAGGACC	0.602																																						uc010avs.2		NaN																	0				skin(2)	2						c.(286-288)GAC>GAT		HHIP-like protein 1 isoform a		C	,	1,4405	2.1+/-5.4	0,1,2202	67.0	65.0	66.0		288,288	-1.5	0.9	14	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	96/783,96/609	100118593	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118593C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.288C>T	14.37:g.100118593C>T						HHIPL1_uc001ygl.1_Silent_p.D96D	p.D96D	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	353	+		Melanoma(154;0.128)	96					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.288C>T	CCDS45162.1																																																																																				0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1		XM_041566		27	68	0	0	0	0.099896	0	27	68		
UNC13C	440279	broad.mit.edu	37	15	54793159	54793159	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:54793159A>C	ENST00000260323.11	+	21	5284	c.5284A>C	c.(5284-5286)Atg>Ctg	p.M1762L	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1760L|UNC13C_ENST00000545554.1_Missense_Mutation_p.M1762L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1762	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTCACTTAATGAGAAGATT	0.368																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(5284-5286)ATG>CTG		unc-13 homolog C							120.0	118.0	118.0					15																	54793159		1899	4119	6018	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54793159A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5284A>C	15.37:g.54793159A>C	ENSP00000260323:p.Met1762Leu						p.M1762L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5284	+			1762			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5284A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860466	0.51482	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77877	-1.13;-1.13;-1.13	5.08	5.08	0.68730	Munc13 homology 1 (1);	0.081242	0.85682	D	0.000000	T	0.72740	0.3498	L	0.52206	1.635	0.52501	D	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.69431	-0.5147	10	0.44086	T	0.13	.	14.3203	0.66482	1.0:0.0:0.0:0.0	.	1762	Q8NB66	UN13C_HUMAN	L	1762;1762;1760	ENSP00000260323:M1762L;ENSP00000438156:M1762L;ENSP00000442569:M1760L	ENSP00000260323:M1762L	M	+	1	0	UNC13C	52580451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.205000	0.95048	2.031000	0.59945	0.533000	0.62120	ATG		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		44	75	0	0	0	0.045515	0	44	75		
TLN2	83660	broad.mit.edu	37	15	63128203	63128203	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63128203C>G	ENST00000561311.1	+	56	7535	c.7305C>G	c.(7303-7305)tcC>tcG	p.S2435S	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2435S|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2435	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCGCCGCTTCCACGGCTCAGC	0.612																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(7303-7305)TCC>TCG		talin 2							29.0	29.0	29.0					15																	63128203		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63128203C>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7305C>G	15.37:g.63128203C>G						TLN2_uc002alc.3_Silent_p.S828S|TLN2_uc010uic.1_Silent_p.S36S|uc002ale.1_5'Flank	p.S2435S	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			54	7305	+			2435			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7305C>G	CCDS32261.1																																																																																				0.612	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				14	25	0	0	0	0.105934	0	14	25		
HERC1	8925	broad.mit.edu	37	15	63927026	63927026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63927026C>T	ENST00000443617.2	-	66	12563	c.12476G>A	c.(12475-12477)gGg>gAg	p.G4159E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4159					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCACCATTCCCAAAGGTGAA	0.448																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(12475-12477)GGG>GAG		hect domain and RCC1-like domain 1							71.0	65.0	67.0					15																	63927026		1883	4117	6000	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63927026C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12476G>A	15.37:g.63927026C>T	ENSP00000390158:p.Gly4159Glu						p.G4159E	NM_003922	NP_003913	Q15751	HERC1_HUMAN			66	12624	-			4159			RCC1 11.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12476G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481405	0.96307	.	.	ENSG00000103657	ENST00000443617	D	0.99957	-9.0	5.74	5.74	0.90152	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97168	0.9842	10	0.87932	D	0	.	19.9222	0.97091	0.0:1.0:0.0:0.0	.	4159	Q15751	HERC1_HUMAN	E	4159	ENSP00000390158:G4159E	ENSP00000390158:G4159E	G	-	2	0	HERC1	61714079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.716000	0.92895	0.650000	0.86243	GGG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		14	18	0	0	0	0.105934	0	14	18		
THSD4	79875	broad.mit.edu	37	15	72030322	72030322	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:72030322G>C	ENST00000355327.3	+	11	2016	c.1882G>C	c.(1882-1884)Gaa>Caa	p.E628Q	THSD4_ENST00000357769.4_Missense_Mutation_p.E268Q|THSD4_ENST00000261862.6_Missense_Mutation_p.E628Q|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	628					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGGACAACAGAATGTTCCAC	0.612																																						uc002atb.1		NaN																	0				ovary(2)	2						c.(1882-1884)GAA>CAA		thrombospondin, type I, domain containing 4							51.0	60.0	57.0					15																	72030322		2063	4205	6268	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72030322G>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1882G>C	15.37:g.72030322G>C	ENSP00000347484:p.Glu628Gln					THSD4_uc010ukg.1_Missense_Mutation_p.E268Q|THSD4_uc002ate.2_Missense_Mutation_p.E268Q	p.E628Q	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			10	1961	+			628					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1882G>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394898	0.62066	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61742	0.08;0.08;0.08	4.8	4.8	0.61643	.	.	.	.	.	T	0.68961	0.3058	L	0.51853	1.615	0.58432	D	0.999996	D;P;D	0.69078	0.993;0.928;0.997	P;P;D	0.68192	0.69;0.724;0.956	T	0.67248	-0.5718	9	0.38643	T	0.18	.	15.4071	0.74887	0.0:0.0:1.0:0.0	.	268;268;628	B4E1J6;B4DR13;Q6ZMP0	.;.;THSD4_HUMAN	Q	628;628;268	ENSP00000347484:E628Q;ENSP00000261862:E628Q;ENSP00000350413:E268Q	ENSP00000261862:E628Q	E	+	1	0	THSD4	69817376	1.000000	0.71417	0.309000	0.25155	0.172000	0.22775	8.895000	0.92512	2.491000	0.84063	0.650000	0.86243	GAA		0.612	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		NM_024817		20	43	0	0	0	0.055883	0	20	43		
NEO1	4756	broad.mit.edu	37	15	73428236	73428236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:73428236G>A	ENST00000339362.5	+	6	1330	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	NEO1_ENST00000560262.1_Missense_Mutation_p.E295K|NEO1_ENST00000261908.6_Missense_Mutation_p.E295K|NEO1_ENST00000558964.1_Missense_Mutation_p.E295K			Q92859	NEO1_HUMAN	neogenin 1	295	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACACAGCTCTGAAAGATTGGT	0.338																																						uc002avm.3		NaN																	0				pancreas(1)	1						c.(883-885)GAA>AAA		neogenin homolog 1 precursor							69.0	67.0	68.0					15																	73428236		2197	4297	6494	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73428236G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.883G>A	15.37:g.73428236G>A	ENSP00000341198:p.Glu295Lys					NEO1_uc010ukx.1_Missense_Mutation_p.E295K|NEO1_uc010uky.1_Missense_Mutation_p.E295K|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_5'UTR	p.E295K	NM_002499	NP_002490	Q92859	NEO1_HUMAN			5	1025	+			295			Extracellular (Potential).|Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.883G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	1.914	-0.450054	0.04572	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.28069	1.63;1.63	6.04	6.04	0.98038	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205168	0.50627	D	0.000104	T	0.24812	0.0602	N	0.25957	0.775	0.42393	D	0.992532	B;B;B	0.27192	0.171;0.0;0.0	B;B;B	0.35899	0.213;0.01;0.007	T	0.07121	-1.0789	10	0.10902	T	0.67	-2.9407	13.6629	0.62378	0.0:0.1545:0.8455:0.0	.	295;295;295	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	K	295;13;295	ENSP00000341198:E295K;ENSP00000261908:E295K	ENSP00000261908:E295K	E	+	1	0	NEO1	71215289	1.000000	0.71417	0.993000	0.49108	0.293000	0.27360	5.663000	0.68038	2.873000	0.98535	0.561000	0.74099	GAA		0.338	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499		5	8	0	0	0	0.02938	0	5	8		
SRRM2	23524	broad.mit.edu	37	16	2820448	2820448	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:2820448C>T	ENST00000301740.8	+	13	8666	c.8117C>T	c.(8116-8118)tCa>tTa	p.S2706L	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2706	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAGCCCTCACCACGGGAC	0.642																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(8116-8118)TCA>TTA		splicing coactivator subunit SRm300							24.0	22.0	22.0					16																	2820448		2197	4299	6496	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2820448C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8117C>T	16.37:g.2820448C>T	ENSP00000301740:p.Ser2706Leu						p.S2706L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			13	8666	+			2706			Ser-rich.|Arg-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.8117C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	6.419	0.445525	0.12164	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000382300	T	0.27720	1.65	5.31	5.31	0.75309	.	0.000000	0.47852	D	0.000210	T	0.35393	0.0930	N	0.19112	0.55	0.35524	D	0.801706	D	0.58268	0.982	P	0.55545	0.778	T	0.47699	-0.9097	10	0.66056	D	0.02	-6.1562	16.4633	0.84071	0.0:1.0:0.0:0.0	.	2706	Q9UQ35	SRRM2_HUMAN	L	2706;2288;187	ENSP00000301740:S2706L	ENSP00000301740:S2706L	S	+	2	0	SRRM2	2760449	0.147000	0.22687	0.967000	0.41034	0.542000	0.35054	4.334000	0.59291	2.496000	0.84212	0.655000	0.94253	TCA		0.642	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				7	12	0	0	0	0.02938	0	7	12		
MEFV	4210	broad.mit.edu	37	16	3297033	3297033	+	Missense_Mutation	SNP	C	C	T	rs562465748		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:3297033C>T	ENST00000219596.1	-	5	1609	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	MEFV_ENST00000339854.4_Missense_Mutation_p.E344K|MEFV_ENST00000536379.1_Missense_Mutation_p.E313K|MEFV_ENST00000541159.1_Missense_Mutation_p.E313K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	524	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGTTCCCATTCTGACTGGCAC	0.617																																						uc002cun.1		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(1570-1572)GAA>AAA		Mediterranean fever protein	Colchicine(DB01394)						100.0	87.0	91.0					16																	3297033		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3297033C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1570G>A	16.37:g.3297033C>T	ENSP00000219596:p.Glu524Lys						p.E524K	NM_000243	NP_000234	O15553	MEFV_HUMAN			5	1610	-			524					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1570G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788600	0.31685	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65732	-0.17;0.27;0.27;0.28	5.29	3.31	0.37934	.	0.405345	0.21183	N	0.078787	T	0.68320	0.2988	M	0.76838	2.35	0.09310	N	1	D	0.60575	0.988	P	0.54815	0.761	T	0.57969	-0.7719	10	0.27082	T	0.32	-33.2621	7.0965	0.25313	0.0:0.7357:0.1732:0.0911	.	524	O15553	MEFV_HUMAN	K	524;524;344;313;313;313	ENSP00000219596:E524K;ENSP00000339639:E344K;ENSP00000438711:E313K;ENSP00000445079:E313K	ENSP00000219596:E524K	E	-	1	0	MEFV	3237034	0.007000	0.16637	0.002000	0.10522	0.215000	0.24574	1.452000	0.35156	0.791000	0.33826	0.655000	0.94253	GAA		0.617	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243		51	74	0	0	0	0.048971	0	51	74		
TNRC6A	27327	broad.mit.edu	37	16	24826603	24826603	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:24826603C>G	ENST00000395799.3	+	19	4937	c.4808C>G	c.(4807-4809)tCt>tGt	p.S1603C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.S81C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1554C|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1603					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCTAACGGCTCTAGCAGTGTT	0.433																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(4807-4809)TCT>TGT		trinucleotide repeat containing 6A							65.0	62.0	63.0					16																	24826603		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24826603C>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4808C>G	16.37:g.24826603C>G	ENSP00000379144:p.Ser1603Cys					TNRC6A_uc010bxs.2_Missense_Mutation_p.S1350C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1301C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1242C|TNRC6A_uc002dmp.2_Missense_Mutation_p.S204C|TNRC6A_uc002dmq.2_Missense_Mutation_p.S270C	p.S1603C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	19	4922	+			1603					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4808C>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819284	0.90873	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.13657	2.57;2.57	5.92	5.92	0.95590	.	0.182055	0.51477	D	0.000099	T	0.22360	0.0539	N	0.08118	0	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;D;D;D	0.76071	0.987;0.912;0.987;0.97	T	0.28808	-1.0032	10	0.66056	D	0.02	-8.9587	20.3206	0.98668	0.0:1.0:0.0:0.0	.	270;742;1554;1603	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	C	1554;1603;81	ENSP00000326900:S1554C;ENSP00000379144:S1603C	ENSP00000326900:S1554C	S	+	2	0	TNRC6A	24734104	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.175000	0.71949	2.809000	0.96659	0.655000	0.94253	TCT		0.433	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		26	34	0	0	0	0.0918	0	26	34		
MYLK3	91807	broad.mit.edu	37	16	46744549	46744549	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46744549C>T	ENST00000394809.4	-	11	2382	c.2267G>A	c.(2266-2268)aGc>aAc	p.S756N	MYLK3_ENST00000536476.1_Splice_Site_p.S415N|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGAAAGGTACCTCTTCTCTTT	0.532																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(2266-2268)AGC>AAC		myosin light chain kinase 3							105.0	102.0	103.0					16																	46744549		2203	4300	6503	SO:0001630	splice_region_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46744549C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2267+1G>A	16.37:g.46744549C>T						MYLK3_uc010vge.1_Missense_Mutation_p.S415N	p.S756N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			11	2383	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	756			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.2267G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873583	0.91664	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.66099	-0.19;-0.19	6.03	6.03	0.97812	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	0.42548	D	0.000690	T	0.68568	0.3015	N	0.21508	0.67	0.80722	D	1	P	0.49090	0.919	D	0.63488	0.915	T	0.63328	-0.6662	9	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	756	Q32MK0	MYLK3_HUMAN	N	756;415	ENSP00000378288:S756N;ENSP00000439297:S415N	.	S	-	2	0	MYLK3	45302050	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.764000	0.85297	2.861000	0.98227	0.655000	0.94253	AGC		0.532	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493	Missense_Mutation	43	101	0	0	0	0.045515	0	43	101		
MYLK3	91807	broad.mit.edu	37	16	46766181	46766181	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46766181C>A	ENST00000394809.4	-	4	1516	c.1401G>T	c.(1399-1401)ccG>ccT	p.P467P	MYLK3_ENST00000536476.1_Silent_p.P126P	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	467					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCTCTCACCGGAGCCCTGG	0.657																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1399-1401)CCG>CCT		myosin light chain kinase 3							33.0	36.0	35.0					16																	46766181		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46766181C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1401G>T	16.37:g.46766181C>A						MYLK3_uc010vge.1_Silent_p.P126P|MYLK3_uc002eej.1_Silent_p.P126P	p.P467P	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			4	1517	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	467					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.1401G>T	CCDS10723.2																																																																																				0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		32	61	1	0	5.60225e-13	0.041601	5.84941e-13	32	61		
ZNF423	23090	broad.mit.edu	37	16	49671231	49671231	+	Missense_Mutation	SNP	T	T	A	rs114911915		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:49671231T>A	ENST00000561648.1	-	4	1885	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	ZNF423_ENST00000262383.2_Missense_Mutation_p.E611V|ZNF423_ENST00000562871.1_Missense_Mutation_p.E551V|ZNF423_ENST00000567169.1_Missense_Mutation_p.E494V|ZNF423_ENST00000562520.1_Missense_Mutation_p.E551V|ZNF423_ENST00000563137.2_Missense_Mutation_p.E551V|ZNF423_ENST00000535559.1_Missense_Mutation_p.E494V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	611					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAAGACACCTCCACATCGGA	0.547																																						uc002efs.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1831-1833)GAG>GTG		zinc finger protein 423							106.0	85.0	92.0					16																	49671231		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671231T>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1832A>T	16.37:g.49671231T>A	ENSP00000455426:p.Glu611Val					ZNF423_uc010vgn.1_Missense_Mutation_p.E494V	p.E611V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2130	-		all_cancers(37;0.0155)	611					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1832A>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432880	0.25813	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10860	2.83;2.87	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.29908	0.895	0.58432	D	0.999999	D	0.69078	0.997	P	0.62089	0.898	T	0.02625	-1.1132	9	.	.	.	.	14.3363	0.66592	0.0:0.0:0.0:1.0	.	611	Q2M1K9	ZN423_HUMAN	V	611;494	ENSP00000262383:E611V;ENSP00000442321:E494V	.	E	-	2	0	ZNF423	48228732	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	5.970000	0.70431	1.793000	0.52555	0.459000	0.35465	GAG		0.547	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069		46	60	0	0	0	0.048971	0	46	60		
PARD6A	50855	broad.mit.edu	37	16	67695399	67695399	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:67695399G>A	ENST00000219255.3	+	2	185	c.105G>A	c.(103-105)tcG>tcA	p.S35S	ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Silent_p.S35S|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Silent_p.S35S|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCGCGCTTCGGTGAGCGGCT	0.657																																						uc002ett.2		NaN																	0				ovary(1)	1						c.(103-105)TCG>TCA		par-6 partitioning defective 6 homolog alpha							59.0	66.0	63.0					16																	67695399		2198	4300	6498	SO:0001819	synonymous_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695399G>A		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.105G>A	16.37:g.67695399G>A						ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S35S|PARD6A_uc002etu.2_5'UTR	p.S35S	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	196	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	35			Interaction with PRKCI and PRKCZ.|OPR.		O14911|Q9NPJ7	Silent	SNP	ENST00000219255.3	37	c.105G>A	CCDS10843.1																																																																																				0.657	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		38	87	0	0	0	0.039052	0	38	87		
LDHD	197257	broad.mit.edu	37	16	75149486	75149487	+	Missense_Mutation	DNP	CC	CC	TT	rs372903097		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:75149486_75149487CC>TT	ENST00000450168.2	-	2	194_195	c.144_145GG>AA	c.(142-147)gcGGtg>gcAAtg	p.V49M	LDHD_ENST00000300051.4_Missense_Mutation_p.V49M	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TCTCGGACCACCGCGGCAGTGG	0.649																																						uc002fdm.2		NaN																	0					0						c.(142-147)GCGGTG>GCAATG		D-lactate dehydrogenase isoform 1 precursor																																				SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149486_75149487CC>TT	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.144_145delinsTT	16.37:g.75149486_75149487delinsTT	ENSP00000417011:p.Val49Met					LDHD_uc002fdn.2_Missense_Mutation_p.V49M	p.V49M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			2	191_192	-			49						Missense_Mutation	DNP	ENST00000450168.2	37	c.144_145GG>AA	CCDS45529.1																																																																																				0.649	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1		NM_153486		7	38	0	0	0	0.004672	0	7	38		
RPL13	6137	broad.mit.edu	37	16	89629441	89629441	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:89629441G>T	ENST00000393099.3	+	5	876	c.627G>T	c.(625-627)aaG>aaT	p.K209N	RPL13_ENST00000567815.1_Missense_Mutation_p.K209N|RPL13_ENST00000311528.5_Missense_Mutation_p.K209N|RPL13_ENST00000452368.3_Missense_Mutation_p.K162N|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	209					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		ATGTTGAAAAGAAAAAATAAA	0.557																																						uc002fnm.1		NaN																	0					0						c.(625-627)AAG>AAT		ribosomal protein L13							17.0	21.0	20.0					16																	89629441		2157	4272	6429	SO:0001583	missense	6137				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr16:89629441G>T	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"""L ribosomal proteins"""	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.627G>T	16.37:g.89629441G>T	ENSP00000376811:p.Lys209Asn					RPL13_uc010vpj.1_Missense_Mutation_p.K162N|RPL13_uc002fnn.1_Missense_Mutation_p.K209N|RPL13_uc002fno.1_3'UTR	p.K209N	NM_000977	NP_000968	P26373	RL13_HUMAN		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)	6	678	+		all_hematologic(23;0.0748)	209					B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Missense_Mutation	SNP	ENST00000393099.3	37	c.627G>T	CCDS10979.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723012	0.68959	.	.	ENSG00000167526	ENST00000311528;ENST00000452368;ENST00000393099	T;T;T	0.54279	1.29;0.58;1.29	4.52	3.56	0.40772	.	0.000000	0.85682	U	0.000000	T	0.60038	0.2238	L	0.55481	1.735	0.58432	D	0.999999	P;D	0.59767	0.946;0.986	P;P	0.55455	0.668;0.776	T	0.63769	-0.6562	10	0.72032	D	0.01	-10.2793	12.42	0.55514	0.0821:0.0:0.9179:0.0	.	162;209	F5H1S2;P26373	.;RL13_HUMAN	N	209;162;209	ENSP00000307889:K209N;ENSP00000438959:K162N;ENSP00000376811:K209N	ENSP00000307889:K209N	K	+	3	2	RPL13	88156942	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	6.553000	0.73918	1.038000	0.40049	0.462000	0.41574	AAG		0.557	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2		NM_000977		12	21	1	0	2.10051e-16	0.09319	2.21489e-16	12	21		
SCARF1	8578	broad.mit.edu	37	17	1551226	1551226	+	5'Flank	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:1551226G>A	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.P283S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGGCCGGGGACCCGGTGG	0.602																																						uc002ftd.2		NaN																	0				ovary(1)	1						c.(847-849)CCC>TCC		Rab interacting lysosomal protein							77.0	61.0	67.0					17																	1551226		2203	4300	6503	SO:0001631	upstream_gene_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1551226G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551226G>A	Exception_encountered					SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	p.P283S	NM_031430	NP_113618	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1141	-			283			Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.847C>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570393	0.86542	.	.	ENSG00000167705	ENST00000301336	T	0.47177	0.85	5.45	4.48	0.54585	.	0.076042	0.51477	N	0.000082	T	0.59851	0.2224	L	0.54323	1.7	0.45662	D	0.998589	D	0.67145	0.996	D	0.64042	0.921	T	0.61840	-0.6980	10	0.59425	D	0.04	-11.282	11.964	0.53025	0.0809:0.0:0.919:0.0	.	283	Q96NA2	RILP_HUMAN	S	283	ENSP00000301336:P283S	ENSP00000301336:P283S	P	-	1	0	RILP	1497976	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.223000	0.51231	1.302000	0.44855	0.655000	0.94253	CCC		0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4		NM_003693		25	36	0	0	0	0.0918	0	25	36		
TP53	7157	broad.mit.edu	37	17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	rs1042522	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:7579472G>C	ENST00000269305.4	-	4	404	c.215C>G	c.(214-216)cCc>cGc	p.P72R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P72R|TP53_ENST00000445888.2_Missense_Mutation_p.P72R|TP53_ENST00000420246.2_Missense_Mutation_p.P72R|TP53_ENST00000413465.2_Missense_Mutation_p.P72R|TP53_ENST00000455263.2_Missense_Mutation_p.P72R	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	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16131611, ECO:0000269|PubMed:1999338, ECO:0000269|Ref.17}.		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.0?(8)|p.R72P(3)|p.R72fs*51(3)|p.G59fs*23(3)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	AGGGGCCACGGGGGGAGCAGC	0.607		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)			G|||	2719	0.542931	0.3313	0.683	5008	,	,		12456	0.5863		0.7147	False		,,,				2504	0.5082				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		25	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	upper_aerodigestive_tract(5)|central_nervous_system(4)|breast(4)|bone(4)|lung(2)|ovary(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(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	CM961374	TP53	M	rs1042522	c.(214-216)CCC>CGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	1784,2620		386,1012,804	88.0	95.0	92.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	215,215,215,215	1.9	0.0	17	dbSNP_86	92	6409,2191		2409,1591,300	yes	missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1	103,103,103,103	2795,2603,1104	CC,CG,GG		25.4767,40.5086,36.9963	benign,benign,benign,benign	72/394,72/394,72/347,72/342	7579472	8193,4811	2202	4300	6502	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579472G>C	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.215C>G	17.37:g.7579472G>C	ENSP00000269305:p.Pro72Arg	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.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R	p.P72R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	409	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	72		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).	Interaction with WWOX.|Interaction with HRMT1L2.		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.215C>G	CCDS11118.1	1315	0.6021062271062271	160	0.3252032520325203	262	0.7237569060773481	351	0.6136363636363636	542	0.7150395778364116	G	8.316	0.823228	0.16678	0.405086	0.745233	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99319	-5.23;-5.74;-5.45;-5.74;-5.74;-5.45;-4.11;-2.05	1.87	1.87	0.25490	.	2.010640	0.04441	U	0.370853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B;B;P	0.41313	0.0;0.217;0.151;0.083;0.745	B;B;B;B;B	0.41988	0.0;0.128;0.147;0.045;0.372	T	0.45056	-0.9287	9	0.39692	T	0.17	.	9.7733	0.40603	0.0:0.0:1.0:0.0	rs1042522;rs2229076;rs3174747;rs4134781;rs17844988;rs17857747;rs17882155;rs60388830;rs1042522	72;72;72;72;72	E7EMR6;P04637-2;P04637-3;P04637;E7EQX7	.;.;.;P53_HUMAN;.	R	72	ENSP00000410739:P72R;ENSP00000352610:P72R;ENSP00000269305:P72R;ENSP00000398846:P72R;ENSP00000391127:P72R;ENSP00000391478:P72R;ENSP00000424104:P72R;ENSP00000426252:P72R	ENSP00000269305:P72R	P	-	2	0	TP53	7520197	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	1.015000	0.29963	1.355000	0.45865	0.561000	0.74099	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		12	141	0	0	0	0.09319	0	12	141		
GAS2L2	246176	broad.mit.edu	37	17	34073278	34073278	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:34073278C>T	ENST00000254466.6	-	6	1265	c.1238G>A	c.(1237-1239)aGg>aAg	p.R413K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R397K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	413					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)		AATCCTTCCCCTGGGGAGTTC	0.597																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(1237-1239)AGG>AAG		growth arrest-specific 2 like 2							110.0	122.0	118.0					17																	34073278		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073278C>T	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.1238G>A	17.37:g.34073278C>T	ENSP00000254466:p.Arg413Lys						p.R413K	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1266	-		Ovarian(249;0.17)	413					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1238G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371937	0.42003	.	.	ENSG00000132139	ENST00000254466	T	0.19394	2.15	5.03	3.07	0.35406	.	0.328948	0.26404	N	0.024580	T	0.18635	0.0447	L	0.59436	1.845	0.24394	N	0.994731	P	0.42456	0.78	B	0.38106	0.265	T	0.09271	-1.0682	10	0.29301	T	0.29	-12.2678	8.6184	0.33847	0.0:0.8248:0.0:0.1752	.	413	Q8NHY3	GA2L2_HUMAN	K	413	ENSP00000254466:R413K	ENSP00000254466:R413K	R	-	2	0	GAS2L2	31097391	0.000000	0.05858	0.458000	0.27068	0.237000	0.25408	0.682000	0.25335	0.736000	0.32559	-0.119000	0.15052	AGG		0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		154	150	0	0	0	0.048971	0	154	150		
STARD3	10948	broad.mit.edu	37	17	37809815	37809815	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:37809815G>A	ENST00000336308.5	+	2	249	c.31G>A	c.(31-33)Gac>Aac	p.D11N	STARD3_ENST00000394250.4_Missense_Mutation_p.D11N|STARD3_ENST00000544210.2_Missense_Mutation_p.D11N|STARD3_ENST00000578232.1_Intron|STARD3_ENST00000580611.1_Missense_Mutation_p.D11N	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	11					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGACCCGAGACTTGGAGCG	0.716											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hsd.2		NaN																	0					0						c.(31-33)GAC>AAC		StAR-related lipid transfer (START) domain							46.0	44.0	45.0					17																	37809815		2203	4300	6503	SO:0001583	missense	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37809815G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.31G>A	17.37:g.37809815G>A	ENSP00000337446:p.Asp11Asn		OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	873	STARD3_uc010weg.1_Missense_Mutation_p.D11N|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.D11N|STARD3_uc010wei.1_Missense_Mutation_p.D11N|STARD3_uc002hsf.2_5'UTR	p.D11N	NM_006804	NP_006795	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	155	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		11			Cytoplasmic (Potential).		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.31G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042070	0.35989	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	D;D;D;T	0.84944	-1.89;-1.91;-1.92;0.86	4.26	4.26	0.50523	.	0.242167	0.39909	N	0.001230	D	0.87493	0.6191	L	0.27053	0.805	0.53688	D	0.999979	D;D;D;D	0.76494	0.999;0.997;0.986;0.986	D;D;P;P	0.77004	0.957;0.989;0.722;0.722	D	0.88760	0.3256	10	0.51188	T	0.08	.	17.0432	0.86495	0.0:0.0:1.0:0.0	.	11;11;11;11	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	N	11	ENSP00000337446:D11N;ENSP00000439869:D11N;ENSP00000377794:D11N;ENSP00000411710:D11N	ENSP00000337446:D11N	D	+	1	0	STARD3	35063341	1.000000	0.71417	0.885000	0.34714	0.101000	0.19017	5.142000	0.64820	2.100000	0.63781	0.462000	0.41574	GAC		0.716	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1				16	74	0	0	0	0.043863	0	16	74		
NSF	4905	broad.mit.edu	37	17	44827187	44827187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:44827187C>A	ENST00000398238.4	+	18	2064	c.1957C>A	c.(1957-1959)Cag>Aag	p.Q653K	NSF_ENST00000575068.1_Missense_Mutation_p.Q648K|NSF_ENST00000225282.8_Missense_Mutation_p.Q559K	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	653					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGATGTCCTTCAGGAGATGGA	0.448																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2		NaN																	0				ovary(1)	1						c.(1957-1959)CAG>AAG		vesicle-fusing ATPase							103.0	102.0	102.0					17																	44827187		1989	4160	6149	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44827187C>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1957C>A	17.37:g.44827187C>A	ENSP00000381293:p.Gln653Lys					NSF_uc010wke.1_Missense_Mutation_p.Q559K|NSF_uc010wkf.1_Missense_Mutation_p.Q559K|NSF_uc010wkg.1_Missense_Mutation_p.Q648K	p.Q653K	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	18	2061	+		Melanoma(429;0.203)	653					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1957C>A	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739427	0.15642	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	D;D	0.92595	-3.07;-3.07	5.38	5.38	0.77491	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	N	0.02111	-0.68	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.76418	-0.2966	10	0.05833	T	0.94	-9.6855	19.1294	0.93399	0.0:1.0:0.0:0.0	.	653	P46459	NSF_HUMAN	K	653;559	ENSP00000381293:Q653K;ENSP00000225282:Q559K	ENSP00000225282:Q559K	Q	+	1	0	NSF	42182354	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.487000	0.81328	2.523000	0.85059	0.563000	0.77884	CAG		0.448	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2		NM_006178		29	109	1	0	6.00712e-18	0.050027	6.39759e-18	29	109		
COIL	8161	broad.mit.edu	37	17	55023818	55023818	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:55023818G>A	ENST00000240316.4	-	5	1577	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	515	2 X 4 AA repeats of S-L-P-A.|Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AAGGATGAAAGAATTTCTATA	0.328																																						uc002iuu.2		NaN																	0				ovary(1)	1						c.(1543-1545)CTT>TTT		coilin							125.0	128.0	127.0					17																	55023818		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55023818G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1543C>T	17.37:g.55023818G>A	ENSP00000240316:p.Leu515Phe						p.L515F	NM_004645	NP_004636	P38432	COIL_HUMAN			5	1574	-	Breast(9;6.15e-08)		515			2 X 4 AA repeats of S-L-P-A.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1543C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836412	0.71373	.	.	ENSG00000121058	ENST00000240316	T	0.33865	1.39	5.73	5.73	0.89815	.	0.063063	0.64402	D	0.000003	T	0.59649	0.2209	M	0.70275	2.135	0.48975	D	0.999732	D	0.76494	0.999	D	0.72982	0.979	T	0.60495	-0.7252	10	0.72032	D	0.01	-13.8944	15.7506	0.77983	0.0:0.0:1.0:0.0	.	515	P38432	COIL_HUMAN	F	515	ENSP00000240316:L515F	ENSP00000240316:L515F	L	-	1	0	COIL	52378817	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.662000	0.61525	2.861000	0.98227	0.655000	0.94253	CTT		0.328	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1				47	161	0	0	0	0.048971	0	47	161		
SMARCD2	6603	broad.mit.edu	37	17	61910950	61910950	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:61910950G>A	ENST00000448276.2	-	10	1579	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	SMARCD2_ENST00000225742.9_Silent_p.V363V|SMARCD2_ENST00000323347.10_Silent_p.V390V	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	438					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGCCCACCTTGACATCAAGGG	0.577																																						uc010deb.1		NaN																	0					0						c.(1312-1314)GTC>GTT		SWI/SNF-related matrix-associated							95.0	94.0	95.0					17																	61910950		1980	4173	6153	SO:0001819	synonymous_variant	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910950G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1314C>T	17.37:g.61910950G>A						SMARCD2_uc010wpt.1_Silent_p.V390V|SMARCD2_uc010dea.1_Silent_p.V363V|SMARCD2_uc010dec.1_Silent_p.V417V	p.V438V	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			10	1631	-			438					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Silent	SNP	ENST00000448276.2	37	c.1314C>T	CCDS45756.1																																																																																				0.577	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1		NM_001098426		40	121	0	0	0	0.045515	0	40	121		
ABCA8	10351	broad.mit.edu	37	17	66915581	66915581	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:66915581A>G	ENST00000269080.2	-	13	1786	c.1649T>C	c.(1648-1650)aTg>aCg	p.M550T	ABCA8_ENST00000586539.1_Missense_Mutation_p.M550T|ABCA8_ENST00000430352.2_Missense_Mutation_p.M550T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	550	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAGGTCAGCCATTTCTGAAAG	0.368																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(1648-1650)ATG>ACG		ATP-binding cassette, sub-family A member 8							89.0	86.0	87.0					17																	66915581		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66915581A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1649T>C	17.37:g.66915581A>G	ENSP00000269080:p.Met550Thr					ABCA8_uc002jhq.2_Missense_Mutation_p.M550T|ABCA8_uc010wqq.1_Missense_Mutation_p.M550T|ABCA8_uc010wqr.1_Missense_Mutation_p.M489T|ABCA8_uc002jhr.2_Missense_Mutation_p.M550T	p.M550T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			13	1828	-	Breast(10;4.56e-13)		550			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1649T>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	9.173	1.021628	0.19433	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.38722	1.12;1.12	4.61	-1.51	0.08664	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.270640	0.05469	N	0.552703	T	0.27241	0.0668	N	0.17838	0.53	0.09310	N	1	B;B;B;B;B	0.14012	0.0;0.009;0.001;0.003;0.004	B;B;B;B;B	0.22152	0.012;0.034;0.009;0.034;0.038	T	0.27536	-1.0071	10	0.15066	T	0.55	.	9.4262	0.38581	0.6146:0.0:0.3854:0.0	.	489;550;550;550;550	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	550;550;489	ENSP00000269080:M550T;ENSP00000402814:M550T	ENSP00000269080:M550T	M	-	2	0	ABCA8	64427176	0.050000	0.20438	0.000000	0.03702	0.017000	0.09413	0.782000	0.26788	-0.425000	0.07371	0.482000	0.46254	ATG		0.368	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		19	82	0	0	0	0.062417	0	19	82		
DCC	1630	broad.mit.edu	37	18	50985651	50985651	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:50985651C>A	ENST00000442544.2	+	24	4058	c.3442C>A	c.(3442-3444)Ctc>Atc	p.L1148I	DCC_ENST00000581580.1_Missense_Mutation_p.L783I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1148					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)		CCAGAAGGACCTCCGACCCCC	0.493																																						uc002lfe.1		NaN																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3442-3444)CTC>ATC		netrin receptor DCC precursor							73.0	73.0	73.0					18																	50985651		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.chr18:50985651C>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.3442C>A	18.37:g.50985651C>A	ENSP00000389140:p.Leu1148Ile					DCC_uc010dpf.1_Missense_Mutation_p.L783I	p.L1148I	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	24	4029	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1148			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3442C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545117	0.45280	.	.	ENSG00000187323	ENST00000442544	T	0.50548	0.74	5.93	5.06	0.68205	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.55049	0.1896	L	0.51422	1.61	0.47245	D	0.999365	D	0.65815	0.995	D	0.68039	0.955	T	0.48399	-0.9039	10	0.05525	T	0.97	-7.8103	13.4775	0.61316	0.0:0.9244:0.0:0.0756	.	1148	P43146	DCC_HUMAN	I	1148	ENSP00000389140:L1148I	ENSP00000389140:L1148I	L	+	1	0	DCC	49239649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.382000	0.44345	2.826000	0.97356	0.655000	0.94253	CTC		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		70	27	1	0	1.49552e-23	0.048971	1.63357e-23	70	27		
SERPINB11	89778	broad.mit.edu	37	18	61383320	61383320	+	RNA	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:61383320G>A	ENST00000382749.5	+	0	654				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCAAACTGTGGATTTTGAACA	0.343																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3		NaN																	0				breast(1)	1						c.(409-411)GAT>AAT		serpin peptidase inhibitor, clade B, member 11							113.0	99.0	103.0					18																	61383320		1844	4100	5944			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61383320G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61383320G>A						SERPINB11_uc010xes.1_Intron|SERPINB11_uc010dqd.2_Missense_Mutation_p.D23N|SERPINB11_uc002ljj.3_Missense_Mutation_p.D23N|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron	p.D137N	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			6	471	+		Esophageal squamous(42;0.129)	137					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.409G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.465463	0.84425	.	.	ENSG00000206072	ENST00000544088	D	0.84660	-1.88	4.65	4.65	0.58169	Serpin domain (3);	.	.	.	.	D	0.86834	0.6028	L	0.53780	1.695	0.80722	D	1	P;P	0.52316	0.94;0.952	P;P	0.56563	0.61;0.801	D	0.85613	0.1259	9	0.39692	T	0.17	.	10.1818	0.42972	0.1037:0.0:0.8963:0.0	.	137;137	F5GYW9;Q96P15	.;SPB11_HUMAN	N	137	ENSP00000441497:D137N	ENSP00000421854:D137N	D	+	1	0	SERPINB11	59534300	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.306000	0.51881	2.120000	0.65058	0.650000	0.86243	GAT		0.343	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3		NM_080475		18	10	0	0	0	0.049695	0	18	10		
POLRMT	5442	broad.mit.edu	37	19	619039	619039	+	Silent	SNP	G	G	A	rs554250745		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:619039G>A	ENST00000588649.2	-	15	3309	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1075	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGCCCAGGGGTG	0.647																																						uc002lpf.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(3223-3225)GGC>GGT		mitochondrial DNA-directed RNA polymerase							51.0	46.0	47.0					19																	619039		2199	4299	6498	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619039G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3225C>T	19.37:g.619039G>A							p.G1075G	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	3281	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1075			Mediates interaction with TEFM.		O60370	Silent	SNP	ENST00000588649.2	37	c.3225C>T	CCDS12036.1																																																																																				0.647	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035		20	21	0	0	0	0.049695	0	20	21		
AP3D1	8943	broad.mit.edu	37	19	2110148	2110148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:2110148G>A	ENST00000345016.5	-	26	3296	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	AP3D1_ENST00000356926.4_Missense_Mutation_p.S981F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S853F|AP3D1_ENST00000355272.6_Missense_Mutation_p.S1084F	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1022					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GGCAATGAAGGACAGGGTCCC	0.632																																						uc002luz.2		NaN																	0					0						c.(3064-3066)TCC>TTC		adaptor-related protein complex 3, delta 1							64.0	66.0	65.0					19																	2110148		2055	4175	6230	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110148G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3065C>T	19.37:g.2110148G>A	ENSP00000344055:p.Ser1022Phe					AP3D1_uc010dsv.2_Missense_Mutation_p.S112F|AP3D1_uc002luy.2_Missense_Mutation_p.S981F|AP3D1_uc002lva.2_Missense_Mutation_p.S1084F	p.S1022F	NM_003938	NP_003929	O14617	AP3D1_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)	26	3288	-		Hepatocellular(1079;0.137)	1022					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.3065C>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554073	0.86231	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.62	4.62	0.57501	.	0.122397	0.56097	D	0.000027	T	0.60818	0.2298	L	0.51422	1.61	0.53688	D	0.999972	P;D;P;P	0.59357	0.949;0.985;0.773;0.937	P;P;P;P	0.62089	0.745;0.898;0.678;0.628	T	0.63734	-0.6570	10	0.62326	D	0.03	-28.5749	16.1827	0.81921	0.0:0.0:1.0:0.0	.	853;1084;1022;981	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	F	981;1022;1084;890;853	ENSP00000349398:S981F;ENSP00000344055:S1022F;ENSP00000347416:S1084F;ENSP00000342321:S853F	ENSP00000341579:S890F	S	-	2	0	AP3D1	2061148	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	9.279000	0.95777	2.401000	0.81631	0.561000	0.74099	TCC		0.632	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				21	42	0	0	0	0.069288	0	21	42		
SAFB	6294	broad.mit.edu	37	19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:5668195G>A	ENST00000292123.5	+	21	2748	c.2641G>A	c.(2641-2643)Ggg>Agg	p.G881R	SAFB_ENST00000588852.1_Missense_Mutation_p.G883R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000592224.1_Missense_Mutation_p.G882R	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NaN																	0				ovary(1)|liver(1)|skin(1)	3						c.(2641-2643)GGG>AGG		scaffold attachment factor B							37.0	47.0	44.0					19																	5668195		2199	4300	6499	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5668195G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2641G>A	19.37:g.5668195G>A	ENSP00000292123:p.Gly881Arg					SAFB_uc002mcg.2_Missense_Mutation_p.G883R|SAFB_uc002mce.3_Missense_Mutation_p.G882R|SAFB_uc010xir.1_Missense_Mutation_p.G880R|SAFB_uc010xis.1_Missense_Mutation_p.G814R|SAFB_uc010xit.1_Missense_Mutation_p.G725R|SAFB_uc010xiu.1_Missense_Mutation_p.G682R	p.G881R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	21	2694	+			881			Interaction with SAFB2.|Gly-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2641G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098523	0.56183	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11821	2.8;2.96;2.76;2.74	5.17	4.13	0.48395	.	0.147317	0.31438	N	0.007655	T	0.17365	0.0417	M	0.75777	2.31	0.35509	D	0.800434	B;B;B;B;B;B;B	0.16802	0.007;0.019;0.013;0.007;0.007;0.007;0.007	B;B;B;B;B;B;B	0.15052	0.005;0.005;0.012;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.72032	D	0.01	-22.7864	8.79	0.34845	0.0826:0.1506:0.7668:0.0	.	682;725;814;880;883;881;882	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	R	814;778;713;881;725	ENSP00000415895:G814R;ENSP00000404545:G713R;ENSP00000292123:G881R;ENSP00000438880:G725R	ENSP00000292123:G881R	G	+	1	0	SAFB	5619195	1.000000	0.71417	0.826000	0.32828	0.987000	0.75469	6.144000	0.71762	1.306000	0.44926	0.585000	0.79938	GGG		0.682	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2				46	78	0	0	0	0.048971	0	46	78		
ICAM3	3385	broad.mit.edu	37	19	10445321	10445321	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:10445321G>C	ENST00000160262.5	-	5	1283	c.1075C>G	c.(1075-1077)Caa>Gaa	p.Q359E	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.Q282E	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	359	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTGAAGTTGAGCTGGCTGC	0.632																																						uc002mob.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1075-1077)CAA>GAA		intercellular adhesion molecule 3 precursor							55.0	56.0	56.0					19																	10445321		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445321G>C		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1075C>G	19.37:g.10445321G>C	ENSP00000160262:p.Gln359Glu					RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.Q282E	p.Q359E	NM_002162	NP_002153	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		5	1130	-			359			Extracellular (Potential).|Ig-like C2-type 4.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.1075C>G	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481218	0.44147	.	.	ENSG00000076662	ENST00000160262	T	0.11495	2.77	5.07	0.28	0.15682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.135490	0.06639	N	0.760657	T	0.11623	0.0283	L	0.58302	1.8	0.09310	N	1	B	0.31100	0.308	B	0.31442	0.13	T	0.37731	-0.9693	10	0.54805	T	0.06	-3.4921	3.5408	0.07811	0.2886:0.0:0.5345:0.1768	.	359	P32942	ICAM3_HUMAN	E	359	ENSP00000160262:Q359E	ENSP00000160262:Q359E	Q	-	1	0	ICAM3	10306321	0.764000	0.28473	0.008000	0.14137	0.153000	0.21895	0.645000	0.24782	0.203000	0.20529	0.561000	0.74099	CAA		0.632	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1				32	67	0	0	0	0.074837	0	32	67		
LOC105372277	105372277	broad.mit.edu	37	19	12491949	12491949	+	3'UTR	SNP	T	T	C	rs11668955	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491949T>C	ENST00000435033.1	-	0	646																											TAACTGAAGGTTTTCCAAAAT	0.403													N|||	1549	0.309305	0.3729	0.3429	5008	,	,		19775	0.0734		0.4364	False		,,,				2504	0.3119					uc002mts.3		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(127-129)ACC>GCC		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491949T>C																												ENST00000435033.1:c.*302A>G	19.37:g.12491949T>C							p.T43A			Q96GE5	ZN799_HUMAN			4	593	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000435033.1	37	c.127A>G																																																																																					0.403	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1				3	24	0	0	0	0.004672	0	3	24		
LOC105372277	105372277	broad.mit.edu	37	19	12491955	12491955	+	3'UTR	SNP	A	A	C	rs11668074	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491955A>C	ENST00000435033.1	-	0	640																											AAGGTTTTCCAAAATTGTTTA	0.408													N|||	1549	0.309305	0.3729	0.3444	5008	,	,		19722	0.0734		0.4354	False		,,,				2504	0.3119					uc002mts.3		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(121-123)TGG>GGG		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491955A>C																												ENST00000435033.1:c.*296T>G	19.37:g.12491955A>C							p.W41G			Q96GE5	ZN799_HUMAN			4	587	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000435033.1	37	c.121T>G																																																																																					0.408	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1				3	20	0	0	0	0.004672	0	3	20		
SLC5A5	6528	broad.mit.edu	37	19	17992856	17992856	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17992856A>T	ENST00000222248.3	+	9	1493	c.1146A>T	c.(1144-1146)aaA>aaT	p.K382N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	382					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACCCAGGAAACTCGTGATTA	0.577																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1144-1146)AAA>AAT		solute carrier family 5 (sodium iodide							97.0	89.0	92.0					19																	17992856		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17992856A>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1146A>T	19.37:g.17992856A>T	ENSP00000222248:p.Lys382Asn						p.K382N	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			9	1493	+			382			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1146A>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016381	0.54468	.	.	ENSG00000105641	ENST00000222248	D	0.88431	-2.38	4.36	-3.52	0.04682	.	0.225325	0.44285	D	0.000464	D	0.89192	0.6645	M	0.85710	2.77	0.09310	N	0.999993	P	0.41420	0.749	P	0.49140	0.601	T	0.82709	-0.0323	10	0.44086	T	0.13	.	5.5661	0.17170	0.3749:0.2735:0.3516:0.0	.	382	Q92911	SC5A5_HUMAN	N	382	ENSP00000222248:K382N	ENSP00000222248:K382N	K	+	3	2	SLC5A5	17853856	0.001000	0.12720	0.000000	0.03702	0.220000	0.24768	-0.110000	0.10824	-1.158000	0.02811	-0.488000	0.04728	AAA		0.577	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1				28	52	0	0	0	0.108266	0	28	52		
MAST3	23031	broad.mit.edu	37	19	18234408	18234408	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:18234408G>A	ENST00000262811.6	+	7	489	c.489G>A	c.(487-489)ggG>ggA	p.G163G	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	163							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GTGCAACGGGGACCTTCGACA	0.602																																						uc002nhz.3		NaN																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(487-489)GGG>GGA		microtubule associated serine/threonine kinase							42.0	43.0	43.0					19																	18234408		1944	4122	6066	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18234408G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.489G>A	19.37:g.18234408G>A							p.G163G	NM_015016	NP_055831	O60307	MAST3_HUMAN			7	489	+			163					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.489G>A	CCDS46014.1																																																																																				0.602	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150		5	10	0	0	0	0.014758	0	5	10		
PDCD2L	84306	broad.mit.edu	37	19	34895679	34895679	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:34895679C>T	ENST00000246535.3	+	2	281	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PDCD2L_ENST00000587065.2_5'Flank|RP11-618P17.4_ENST00000606020.1_Silent_p.F73F	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	78					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCACGTGTTCGCGTGCGCCT	0.711																																						uc002nvj.2		NaN																	0				ovary(1)	1						c.(232-234)TTC>TTT		programmed cell death 2-like							14.0	14.0	14.0					19																	34895679		2199	4294	6493	SO:0001819	synonymous_variant	84306					cytoplasm		g.chr19:34895679C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.234C>T	19.37:g.34895679C>T							p.F78F	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		2	267	+	Esophageal squamous(110;0.162)		78						Silent	SNP	ENST00000246535.3	37	c.234C>T	CCDS12438.1																																																																																				0.711	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3		NM_032346		10	10	0	0	0	0.09319	0	10	10		
ZNF841	284371	broad.mit.edu	37	19	52568806	52568806	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:52568806G>A	ENST00000426391.2	-	5	2532	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.R777C|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	661					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(4)|kidney(3)|lung(3)	11						AGGCCTGAGCGATAACGGAAG	0.428																																						uc002pyl.1		NaN																	0					0						c.(1981-1983)CGC>TGC		zinc finger protein 841							49.0	45.0	46.0					19																	52568806		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568806G>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1981C>T	19.37:g.52568806G>A	ENSP00000415453:p.Arg661Cys					ZNF841_uc010ydh.1_Missense_Mutation_p.R777C|ZNF841_uc010epk.1_Missense_Mutation_p.R353C	p.R661C	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	2533	-			661			C2H2-type 19.		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1981C>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.290071	0.40494	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.16073	2.37;2.37;2.37	2.02	-2.69	0.06022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	L	0.45422	1.42	0.09310	N	1	D;D;D	0.71674	0.998;0.989;0.994	P;P;B	0.49528	0.614;0.513;0.323	T	0.06698	-1.0812	9	0.41790	T	0.15	.	1.2992	0.02076	0.1673:0.1254:0.3729:0.3344	.	777;353;661	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	C	777;661;353	ENSP00000374185:R777C;ENSP00000415453:R661C;ENSP00000353060:R353C	ENSP00000353060:R353C	R	-	1	0	ZNF841	57260618	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-1.117000	0.03283	-1.000000	0.03438	0.313000	0.20887	CGC		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1		XM_209155		15	29	0	0	0	0.020292	0	15	29		
LAIR1	3903	broad.mit.edu	37	19	54871634	54871634	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:54871634G>A	ENST00000391742.2	-	4	562	c.410C>T	c.(409-411)tCa>tTa	p.S137L	LAIR1_ENST00000391743.3_Missense_Mutation_p.S119L|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000313038.6_Missense_Mutation_p.S130L|LAIR1_ENST00000434277.2_Missense_Mutation_p.S136L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	137					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGACCAGCTGAGGAGCCGGG	0.627																																						uc002qfk.1		NaN																	0				ovary(4)	4						c.(409-411)TCA>TTA		leukocyte-associated immunoglobulin-like							20.0	24.0	23.0					19																	54871634		2189	4292	6481	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54871634G>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.410C>T	19.37:g.54871634G>A	ENSP00000375622:p.Ser137Leu					LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S136L|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Missense_Mutation_p.S130L|LAIR1_uc002qfo.2_Missense_Mutation_p.S119L	p.S137L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	4	720	-	Ovarian(34;0.19)		137			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000391742.2	37	c.410C>T	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.932850	0.34096	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000313038;ENST00000444687	T;T;T;T;T	0.58797	6.84;6.95;6.96;6.91;0.31	1.88	0.829	0.18847	.	.	.	.	.	T	0.54367	0.1854	L	0.40543	1.245	0.09310	N	1	D;P;P;P	0.53151	0.958;0.828;0.828;0.907	P;B;B;B	0.54026	0.74;0.201;0.201;0.276	T	0.43310	-0.9399	9	0.62326	D	0.03	.	4.2665	0.10766	0.208:0.0:0.792:0.0	.	137;119;136;137	Q6GTX8-4;A8MZ84;D3YTC8;Q6GTX8	.;.;.;LAIR1_HUMAN	L	119;137;136;130;27	ENSP00000375623:S119L;ENSP00000375622:S137L;ENSP00000391003:S136L;ENSP00000319204:S130L;ENSP00000392722:S27L	ENSP00000319204:S130L	S	-	2	0	LAIR1	59563446	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.028000	0.13644	0.384000	0.24942	0.423000	0.28283	TCA		0.627	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1				12	30	0	0	0	0.024245	0	12	30		
NLRP2	55655	broad.mit.edu	37	19	55512138	55512138	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:55512138G>C	ENST00000543010.1	+	13	3204	c.3061G>C	c.(3061-3063)Gat>Cat	p.D1021H	NLRP2_ENST00000339757.7_Missense_Mutation_p.D999H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D999H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D1018H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D997H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D997H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D1021H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D998H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1021					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTGAAAATCGATGACTTTAA	0.393																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(3061-3063)GAT>CAT		NLR family, pyrin domain containing 2							82.0	79.0	80.0					19																	55512138		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55512138G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3061G>C	19.37:g.55512138G>C	ENSP00000445135:p.Asp1021His					NLRP2_uc010yfp.1_Missense_Mutation_p.D998H|NLRP2_uc010esn.2_Missense_Mutation_p.D997H|NLRP2_uc010eso.2_Missense_Mutation_p.D1018H|NLRP2_uc010esp.2_Missense_Mutation_p.D999H	p.D1021H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	13	3147	+			1021			LRR 8.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.3061G>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785015	0.31593	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	3.01	-0.491	0.12045	.	.	.	.	.	T	0.56426	0.1984	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.981;0.991;0.981;0.988;0.981	T	0.44590	-0.9318	9	0.34782	T	0.22	.	5.445	0.16529	0.4106:0.0:0.5894:0.0	.	998;999;1018;997;1021	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	1021;997;999;1021;999;998;997;1018	ENSP00000445135:D1021H;ENSP00000375601:D997H;ENSP00000344074:D999H;ENSP00000409370:D1021H;ENSP00000440601:D999H;ENSP00000402474:D998H;ENSP00000441133:D997H;ENSP00000263437:D1018H	ENSP00000263437:D1018H	D	+	1	0	NLRP2	60203950	0.034000	0.19679	0.001000	0.08648	0.045000	0.14185	1.118000	0.31246	-0.000000	0.14550	0.556000	0.70494	GAT		0.393	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		36	53	0	0	0	0.09836	0	36	53		
MAP4K3	8491	broad.mit.edu	37	2	39505628	39505628	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:39505628C>T	ENST00000263881.3	-	24	2039		c.e24-1		MAP4K3_ENST00000437545.1_Splice_Site|MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AAGTACTGATCTGAAATAAAA	0.264																																						uc002rro.2		NaN																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.e24-1		mitogen-activated protein kinase kinase kinase							50.0	48.0	49.0					2																	39505628		2201	4293	6494	SO:0001630	splice_region_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39505628C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1715-1G>A	2.37:g.39505628C>T						MAP4K3_uc002rrp.2_Splice_Site_p.D551_splice|MAP4K3_uc010yns.1_Splice_Site_p.D125_splice	p.D572_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			24	1806	-		all_hematologic(82;0.211)						Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Splice_Site	SNP	ENST00000263881.3	37	c.1715_splice	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	c	17.61	3.431638	0.62844	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.53	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6266	0.68626	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K3	39359132	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.995000	0.70631	1.351000	0.45789	-0.119000	0.15052	.		0.264	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618	Intron	31	27	0	0	0	0.045705	0	31	27		
PPP1R21	129285	broad.mit.edu	37	2	48698230	48698230	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:48698230C>T	ENST00000294952.8	+	10	1059	c.902C>T	c.(901-903)tCa>tTa	p.S301L	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S301L|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S301L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	301						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GTTTAGTTCTCACAATACCTT	0.363																																						uc002rwm.2		NaN																	0				ovary(1)	1						c.(901-903)TCA>TTA		KLRAQ motif containing 1 isoform 1							98.0	91.0	93.0					2																	48698230		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48698230C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.902C>T	2.37:g.48698230C>T	ENSP00000294952:p.Ser301Leu					KLRAQ1_uc002rwi.1_Missense_Mutation_p.S301L|KLRAQ1_uc002rwj.2_Missense_Mutation_p.S301L|KLRAQ1_uc002rwl.2_Missense_Mutation_p.S255L|KLRAQ1_uc002rwk.2_Missense_Mutation_p.S301L|KLRAQ1_uc010yok.1_Missense_Mutation_p.S301L	p.S301L	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			10	1087	+			301					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.902C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826169	0.90955	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.975;0.975	D;D;D;P;P	0.87578	0.998;0.994;0.996;0.736;0.736	T	0.75775	-0.3199	9	0.51188	T	0.08	-11.6142	19.2914	0.94102	0.0:1.0:0.0:0.0	.	301;301;301;301;301	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	L	301	.	ENSP00000281394:S301L	S	+	2	0	KLRAQ1	48551734	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	6.908000	0.75730	2.793000	0.96121	0.561000	0.74099	TCA		0.363	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4		NM_152994		31	29	0	0	0	0.054565	0	31	29		
GPR75-ASB3	100302652	broad.mit.edu	37	2	53897698	53897698	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:53897698T>C	ENST00000263634.3	-	10	1633	c.1499A>G	c.(1498-1500)tAt>tGt	p.Y500C	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Y427C|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Y427C|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Y538C|ASB3_ENST00000406625.2_Missense_Mutation_p.Y535C|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		AACGTCTTCATAGAGCAAATA	0.388																																						uc002rxg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(1498-1500)TAT>TGT		ankyrin repeat and SOCS box-containing protein 3							75.0	74.0	74.0					2																	53897698		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53897698T>C		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1499A>G	2.37:g.53897698T>C	ENSP00000263634:p.Tyr500Cys					ASB3_uc002rxh.1_Missense_Mutation_p.Y427C|ASB3_uc002rxi.3_Missense_Mutation_p.Y538C|ASB3_uc002rxf.1_RNA	p.Y500C	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		10	1634	-			500			SOCS box.			Missense_Mutation	SNP	ENST00000263634.3	37	c.1499A>G	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.244534	0.39697	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.54	1.59	0.23543	SOCS protein, C-terminal (3);	0.134851	0.49916	N	0.000127	T	0.71846	0.3388	M	0.92555	3.32	0.35524	D	0.801654	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.74150	-0.3758	9	0.87932	D	0	-2.5359	3.7976	0.08746	0.3334:0.0905:0.0:0.5761	.	535;500	Q2TAI4;Q9Y575	.;ASB3_HUMAN	C	500;535;427;427;538;419	ENSP00000263634:Y500C;ENSP00000385085:Y535C;ENSP00000384728:Y427C;ENSP00000378206:Y427C;ENSP00000313756:Y538C	ENSP00000263634:Y500C	Y	-	2	0	ASB3	53751202	1.000000	0.71417	0.987000	0.45799	0.216000	0.24613	1.458000	0.35223	0.371000	0.24564	0.460000	0.39030	TAT		0.388	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3				11	35	0	0	0	0.080935	0	11	35		
ALMS1	7840	broad.mit.edu	37	2	73717138	73717138	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:73717138A>G	ENST00000264448.6	+	10	8160	c.8049A>G	c.(8047-8049)gtA>gtG	p.V2683V	ALMS1_ENST00000409009.1_Silent_p.V2641V|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2683					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGAATTAGTAGAACCTGCTT	0.398																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8053-8055)GTA>GTG		Alstrom syndrome 1							163.0	152.0	155.0					2																	73717138		1863	4096	5959	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717138A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8049A>G	2.37:g.73717138A>G						ALMS1_uc002sjf.1_Silent_p.V2641V|ALMS1_uc002sjg.2_Silent_p.V2071V|ALMS1_uc002sjh.1_Silent_p.V2071V	p.V2685V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8166	+			2683					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8055A>G	CCDS42697.1																																																																																				0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		173	126	0	0	0	0.048971	0	173	126		
GPAT2	150763	broad.mit.edu	37	2	96690055	96690055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:96690055C>T	ENST00000434632.1	-	17	2159	c.1700G>A	c.(1699-1701)aGa>aAa	p.R567K	GPAT2_ENST00000377137.3_Missense_Mutation_p.R567K|GPAT2_ENST00000359548.4_Missense_Mutation_p.R567K|GPAT2_ENST00000453542.1_Missense_Mutation_p.R496K|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	567					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GGGCGGCACTCTGCCTGCCAG	0.642																																						uc002svf.2		NaN																	0					0						c.(1699-1701)AGA>AAA		glycerol-3-phosphate acyltransferase 2,							9.0	11.0	11.0					2																	96690055		1847	3954	5801	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690055C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1700G>A	2.37:g.96690055C>T	ENSP00000389395:p.Arg567Lys					GPAT2_uc002svd.2_Missense_Mutation_p.R386K|GPAT2_uc002sve.2_Missense_Mutation_p.R369K|GPAT2_uc002svg.2_Missense_Mutation_p.R446K|GPAT2_uc010yuh.1_Missense_Mutation_p.R496K|GPAT2_uc002svh.2_Missense_Mutation_p.R567K	p.R567K	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			16	1923	-			567					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1700G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.794495	0.50102	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77358	-1.08;-1.08;-0.12;-1.09	5.2	4.32	0.51571	.	0.148103	0.40554	N	0.001071	T	0.72835	0.3510	M	0.65498	2.005	0.24797	N	0.992729	B;B;B;B;B	0.23990	0.095;0.004;0.003;0.002;0.095	B;B;B;B;B	0.22880	0.028;0.006;0.006;0.006;0.042	T	0.61983	-0.6950	10	0.32370	T	0.25	.	9.7275	0.40342	0.0:0.9037:0.0:0.0963	.	496;567;573;567;496	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	K	567;567;496;567	ENSP00000352547:R567K;ENSP00000389395:R567K;ENSP00000393770:R496K;ENSP00000366341:R567K	ENSP00000352547:R567K	R	-	2	0	GPAT2	96053782	0.011000	0.17503	0.987000	0.45799	0.982000	0.71751	1.312000	0.33574	1.197000	0.43143	0.637000	0.83480	AGA		0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1		NM_207328		25	23	0	0	0	0.050027	0	25	23		
GLI2	2736	broad.mit.edu	37	2	121708927	121708927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:121708927C>G	ENST00000452319.1	+	4	423	c.363C>G	c.(361-363)taC>taG	p.Y121*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.Y121*|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCACCCGTACGTGAACCCCC	0.657																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(361-363)TAC>TAG		GLI-Kruppel family member GLI2							59.0	62.0	61.0					2																	121708927		2203	4300	6503	SO:0001587	stop_gained	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708927C>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.363C>G	2.37:g.121708927C>G	ENSP00000390436:p.Tyr121*					GLI2_uc010yyu.1_Nonsense_Mutation_p.Y121*|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Nonsense_Mutation_p.Y121*	p.Y121*	NM_005270	NP_005261	P10070	GLI2_HUMAN			3	393	+	Renal(3;0.0496)	Prostate(154;0.0623)	121						Nonsense_Mutation	SNP	ENST00000452319.1	37	c.363C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414422	0.62511	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	.	.	.	5.18	1.46	0.22682	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7632	0.34687	0.0:0.6442:0.0:0.3558	.	.	.	.	X	121	.	ENSP00000354586:Y121X	Y	+	3	2	GLI2	121425397	0.984000	0.35163	0.881000	0.34555	0.816000	0.46133	0.988000	0.29616	0.089000	0.17243	-1.056000	0.02311	TAC		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		8	84	0	0	0	0.038147	0	8	84		
ZRANB3	84083	broad.mit.edu	37	2	136107676	136107676	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:136107676C>G	ENST00000264159.6	-	5	585	c.469G>C	c.(469-471)Gat>Cat	p.D157H	ZRANB3_ENST00000401392.1_Missense_Mutation_p.D157H|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D157H	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	157	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTGATTCATCCACTATAACT	0.408																																						uc002tum.2		NaN																	0				lung(2)	2						c.(469-471)GAT>CAT		zinc finger, RAN-binding domain containing 3							105.0	102.0	103.0					2																	136107676		1864	4107	5971	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136107676C>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.469G>C	2.37:g.136107676C>G	ENSP00000264159:p.Asp157His					ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D157H|ZRANB3_uc002tun.1_Missense_Mutation_p.D97H	p.D157H	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	5	586	-			157			DEAH box.|Helicase ATP-binding.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.469G>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877267	0.91664	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.99857	-7.22;-7.22;-7.22	5.42	5.42	0.78866	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95949	0.8953	10	0.87932	D	0	-12.5382	19.2157	0.93776	0.0:1.0:0.0:0.0	.	97;157;157	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	H	157;157;157;97	ENSP00000383979:D157H;ENSP00000264159:D157H;ENSP00000441320:D157H	ENSP00000264159:D157H	D	-	1	0	ZRANB3	135824146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.547000	0.85894	0.591000	0.81541	GAT		0.408	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1		NM_032143		12	14	0	0	0	0.080935	0	12	14		
TTN	7273	broad.mit.edu	37	2	179610937	179610937	+	Intron	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:179610937G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A5397V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATACAGCATCTGAATT	0.328																																						uc002unb.2		NaN																	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.(16189-16191)GCT>GTT		titin isoform novex-3							61.0	64.0	63.0					2																	179610937		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610937G>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.10361-4289C>T	2.37:g.179610937G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A5397V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16414	-			8905					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.16190C>T		.	.	.	.	.	.	.	.	.	.	G	15.77	2.932427	0.52866	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.74947	-0.89	5.88	4.99	0.66335	.	.	.	.	.	T	0.62527	0.2435	L	0.28400	0.85	0.80722	D	1	B	0.25441	0.126	B	0.24006	0.05	T	0.58098	-0.7696	9	0.09843	T	0.71	.	16.8805	0.86061	0.0:0.1283:0.8717:0.0	.	5397	Q8WZ42-6	.	V	5397;678	ENSP00000354117:A5397V	ENSP00000304714:A678V	A	-	2	0	TTN	179319182	1.000000	0.71417	0.089000	0.20774	0.992000	0.81027	5.393000	0.66279	1.451000	0.47736	0.655000	0.94253	GCT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		23	30	0	0	0	0.069288	0	23	30		
FARSB	10056	broad.mit.edu	37	2	223436667	223436667	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:223436667G>A	ENST00000281828.6	-	17	1956	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	FARSB_ENST00000536361.1_Missense_Mutation_p.H466Y|RP11-16P6.1_ENST00000568928.1_RNA	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	565					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ACGTCAGGATGAAGGACCCCA	0.488																																						uc002vne.1		NaN																	0				ovary(1)	1						c.(1693-1695)CAT>TAT		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						75.0	66.0	69.0					2																	223436667		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223436667G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1693C>T	2.37:g.223436667G>A	ENSP00000281828:p.His565Tyr					FARSB_uc010zlq.1_Missense_Mutation_p.H585Y|FARSB_uc002vnf.1_Missense_Mutation_p.H466Y	p.H565Y	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	17	1728	-		Renal(207;0.0183)	565					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.1693C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997394	0.93227	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.92454	0.5972	9	0.72032	D	0.01	-23.5153	19.7903	0.96454	0.0:0.0:1.0:0.0	.	565;565	A8K666;Q9NSD9	.;SYFB_HUMAN	Y	565;466	.	ENSP00000281828:H565Y	H	-	1	0	FARSB	223144911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.292000	0.96076	2.674000	0.91012	0.655000	0.94253	CAT		0.488	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2		NM_005687		21	17	0	0	0	0.069288	0	21	17		
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:240061422C>T	ENST00000345617.3	-	9	1727	c.936G>A	c.(934-936)gcG>gcA	p.A312A	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.A281A|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCGTTCTCCGCGCTGACGC	0.662													C|||	4	0.000798722	0.0015	0.0	5008	,	,		17483	0.002		0.0	False		,,,				2504	0.0					uc002vyk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|skin(2)|ovary(1)	6						c.(934-936)GCG>GCA		histone deacetylase 4		C		5,4401	9.9+/-24.2	0,5,2198	80.0	84.0	83.0		936	-9.1	0.0	2	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	HDAC4	NM_006037.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		312/1085	240061422	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061422C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.936G>A	2.37:g.240061422C>T						HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA	p.A312A	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1728	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	312			Interaction with MEF2A.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.936G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	1.028	-0.682688	0.03353	0.001135	0.0	ENSG00000068024	ENST00000445704	.	.	.	4.54	-9.07	0.00724	.	.	.	.	.	T	0.33818	0.0876	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49399	-0.8944	4	.	.	.	.	1.3036	0.02084	0.2436:0.2629:0.3001:0.1934	.	.	.	.	Q	56	.	.	R	-	2	0	HDAC4	239726359	0.000000	0.05858	0.004000	0.12327	0.046000	0.14306	-6.478000	0.00064	-3.936000	0.00089	-2.443000	0.00211	CGG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2		NM_006037		11	124	0	0	0	0.09319	0	11	124		
PASK	23178	broad.mit.edu	37	2	242065894	242065894	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:242065894C>T	ENST00000405260.1	-	10	3134	c.2436G>A	c.(2434-2436)cgG>cgA	p.R812R	PASK_ENST00000544142.1_Silent_p.R626R|PASK_ENST00000234040.4_Silent_p.R812R|PASK_ENST00000539818.1_Silent_p.R596R|PASK_ENST00000358649.4_Silent_p.R812R|PASK_ENST00000403638.3_Silent_p.R812R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	812					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCTCCCGGAACCGTCGGCCTT	0.562																																						uc002wao.1		NaN																	0				ovary(4)|lung(1)|skin(1)	6						c.(2434-2436)CGG>CGA		PAS domain containing serine/threonine kinase							97.0	94.0	95.0					2																	242065894		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065894C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2436G>A	2.37:g.242065894C>T						PASK_uc010zol.1_Silent_p.R626R|PASK_uc010zom.1_Silent_p.R777R|PASK_uc010fzl.1_Silent_p.R812R|PASK_uc010zon.1_Silent_p.R593R|PASK_uc002wap.2_Silent_p.R355R|PASK_uc002waq.2_Silent_p.R812R	p.R812R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2528	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	812					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2436G>A	CCDS2545.1																																																																																				0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148		31	33	0	0	0	0.041601	0	31	33		
CSNK2A1	1457	broad.mit.edu	37	20	472991	472991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:472991C>T	ENST00000217244.3	-	9	903	c.528G>A	c.(526-528)tgG>tgA	p.W176*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.W176*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.W176*|CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.W40*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAGCCAAACCCCAGTCTATTA	0.393																																						uc002wdw.1		NaN																	0				ovary(1)	1						c.(526-528)TGG>TGA		casein kinase II alpha 1 subunit isoform a							68.0	63.0	65.0					20																	472991		2203	4300	6503	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:472991C>T	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.528G>A	20.37:g.472991C>T	ENSP00000217244:p.Trp176*					CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.W176*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.W40*	p.W176*	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		9	921	-		Breast(17;0.231)	176			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.528G>A	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	40	8.293743	0.98747	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	.	.	.	4.84	4.84	0.62591	.	0.053541	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6241	17.471	0.87646	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;176;176;40	.	ENSP00000217244:W176X	W	-	3	0	CSNK2A1	420991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.622000	0.83099	2.679000	0.91253	0.655000	0.94253	TGG		0.393	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1		NM_001895		11	43	0	0	0	0.080935	0	11	43		
PIGU	128869	broad.mit.edu	37	20	33162908	33162908	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:33162908C>T	ENST00000374820.2	-	10	1154	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	PIGU_ENST00000452740.2_Splice_Site_p.Q398Q			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	398					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TCCCTCTTACCTGCCCAACGT	0.522																																						uc002xas.2		NaN																	0					0						c.(1192-1194)CAG>CAA		phosphatidylinositol glycan anchor biosynthesis,							103.0	95.0	98.0					20																	33162908		2203	4300	6503	SO:0001630	splice_region_variant	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33162908C>T	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.1134+1G>A	20.37:g.33162908C>T						PIGU_uc010zul.1_Silent_p.Q398Q|PIGU_uc002xat.2_Silent_p.Q378Q	p.Q398Q	NM_080476	NP_536724	Q9H490	PIGU_HUMAN			11	1394	-			398			Helical; (Potential).		Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37	c.1194G>A																																																																																					0.522	PIGU-201	KNOWN	basic	protein_coding	protein_coding			NM_080476	Silent	37	81	0	0	0	0.086207	0	37	81		
TGM2	7052	broad.mit.edu	37	20	36760817	36760817	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:36760817G>A	ENST00000361475.2	-	11	1874	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	TGM2_ENST00000536724.1_Silent_p.L507L|TGM2_ENST00000536701.1_Silent_p.L486L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	567					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTGGCTCCACGAGGAGGGCCC	0.557																																						uc002xhr.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1699-1701)CTC>CTT		transglutaminase 2 isoform a	L-Glutamine(DB00130)						170.0	169.0	169.0					20																	36760817		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36760817G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1701C>T	20.37:g.36760817G>A						TGM2_uc002xhq.2_Silent_p.L168L|TGM2_uc010zvx.1_Silent_p.L486L|TGM2_uc010zvy.1_Silent_p.L507L|TGM2_uc002xhs.1_Silent_p.L543L	p.L567L	NM_004613	NP_004604	P21980	TGM2_HUMAN			11	1801	-		Myeloproliferative disorder(115;0.00878)	567					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.1701C>T	CCDS13302.1																																																																																				0.557	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2		NM_198951		93	216	0	0	0	0.048971	0	93	216		
KCNB1	3745	broad.mit.edu	37	20	47991418	47991418	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:47991418G>A	ENST00000371741.4	-	2	845	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	227					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GCCAGCTGGGGGTTGTCTGTG	0.572																																						uc002xur.1		NaN																	0				pancreas(1)|skin(1)	2						c.(679-681)CCC>TCC		potassium voltage-gated channel, Shab-related							92.0	75.0	81.0					20																	47991418		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991418G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.679C>T	20.37:g.47991418G>A	ENSP00000360806:p.Pro227Ser					KCNB1_uc002xus.1_Missense_Mutation_p.P227S	p.P227S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	843	-			227					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.679C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694142	0.48202	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97404	-4.37	5.87	5.87	0.94306	.	0.169560	0.52532	N	0.000062	D	0.96291	0.8790	L	0.61218	1.895	0.58432	D	0.999999	B	0.31193	0.312	B	0.34093	0.175	D	0.94988	0.8132	10	0.56958	D	0.05	.	18.7962	0.91995	0.0:0.0:1.0:0.0	.	227	Q14721	KCNB1_HUMAN	S	227;182	ENSP00000360806:P227S	ENSP00000360806:P227S	P	-	1	0	KCNB1	47424825	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.874000	0.87199	2.785000	0.95823	0.655000	0.94253	CCC		0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3		NM_004975		31	41	0	0	0	0.041601	0	31	41		
DIDO1	11083	broad.mit.edu	37	20	61541160	61541160	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:61541160G>A	ENST00000266070.4	-	4	1377	c.1052C>T	c.(1051-1053)aCa>aTa	p.T351I	DIDO1_ENST00000395343.1_Missense_Mutation_p.T351I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T351I|DIDO1_ENST00000370366.1_Missense_Mutation_p.T351I|DIDO1_ENST00000395335.2_Missense_Mutation_p.T351I|DIDO1_ENST00000354665.4_Missense_Mutation_p.T351I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T351I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T351I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T351I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	351					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTATACTTGTACAATCGGT	0.453																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(1051-1053)ACA>ATA		death inducer-obliterator 1 isoform c							211.0	192.0	198.0					20																	61541160		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541160G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1052C>T	20.37:g.61541160G>A	ENSP00000266070:p.Thr351Ile					DIDO1_uc002yds.1_Missense_Mutation_p.T351I|DIDO1_uc002ydt.1_Missense_Mutation_p.T351I|DIDO1_uc002ydu.1_Missense_Mutation_p.T351I|DIDO1_uc002ydv.1_Missense_Mutation_p.T351I|DIDO1_uc002ydw.1_Missense_Mutation_p.T351I|DIDO1_uc002ydx.1_Missense_Mutation_p.T351I|DIDO1_uc011aao.1_Missense_Mutation_p.T351I	p.T351I	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			4	1316	-	Breast(26;5.68e-08)		351					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1052C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944276	0.53079	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19532	2.98;2.98;2.64;2.64;2.14;2.14;2.14;2.15;2.15	5.35	4.4	0.53042	.	0.000000	0.44285	D	0.000464	T	0.30198	0.0757	M	0.72118	2.19	0.27762	N	0.943783	P;P;P;D	0.55605	0.529;0.94;0.923;0.972	B;P;P;P	0.48304	0.311;0.509;0.504;0.573	T	0.23868	-1.0176	10	0.66056	D	0.02	-24.4326	10.3332	0.43835	0.1499:0.0:0.8501:0.0	.	351;351;351;351	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	I	351	ENSP00000266070:T351I;ENSP00000378752:T351I;ENSP00000378749:T351I;ENSP00000378744:T351I;ENSP00000359397:T351I;ENSP00000359394:T351I;ENSP00000346692:T351I;ENSP00000359391:T351I;ENSP00000266071:T351I	ENSP00000266070:T351I	T	-	2	0	DIDO1	61011605	0.990000	0.36364	0.021000	0.16686	0.002000	0.02628	2.766000	0.47629	1.392000	0.46585	0.555000	0.69702	ACA		0.453	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		69	102	0	0	0	0.048971	0	69	102		
KRTAP19-2	337969	broad.mit.edu	37	21	31859546	31859546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:31859546G>T	ENST00000334055.3	-	1	209	c.122C>A	c.(121-123)tCa>tAa	p.S41*		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	41						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCTGTAGCATGATGGGCAGCA	0.473																																						uc011acy.1		NaN																	0					0						c.(121-123)TCA>TAA		keratin associated protein 19-2							117.0	114.0	115.0					21																	31859546		2203	4300	6503	SO:0001587	stop_gained	337969					intermediate filament		g.chr21:31859546G>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.122C>A	21.37:g.31859546G>T	ENSP00000335660:p.Ser41*						p.S41*	NM_181608	NP_853639	Q3LHN2	KR192_HUMAN			1	122	-			41						Nonsense_Mutation	SNP	ENST00000334055.3	37	c.122C>A	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	13.63	2.293631	0.40594	.	.	ENSG00000186965	ENST00000334055	.	.	.	4.34	1.43	0.22495	.	1.216860	0.06222	N	0.687030	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.4922	0.11819	0.2065:0.1837:0.6097:0.0	.	.	.	.	X	41	.	ENSP00000335660:S41X	S	-	2	0	KRTAP19-2	30781417	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.409000	0.21082	0.191000	0.20236	0.651000	0.88453	TCA		0.473	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3				78	138	1	0	2.08937e-45	0.048971	2.30589e-45	78	138		
SLC5A3	6526	broad.mit.edu	37	21	35468622	35468622	+	Silent	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:35468622G>C	ENST00000381151.3	+	2	1637	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.L375L|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	375					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCAGCTCTGATGAGTGACT	0.493																																						uc002yto.2		NaN																	0				ovary(2)	2						c.(1123-1125)CTG>CTC		solute carrier family 5 (inositol transporters),							70.0	66.0	67.0					21																	35468622		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468622G>C		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1125G>C	21.37:g.35468622G>C						MRPS6_uc002ytp.2_Intron	p.L375L	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1637	+			375			Helical; (Potential).		O43489	Silent	SNP	ENST00000381151.3	37	c.1125G>C	CCDS33549.1																																																																																				0.493	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1				24	45	0	0	0	0.0918	0	24	45		
RRP1B	23076	broad.mit.edu	37	21	45106729	45106729	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:45106729G>T	ENST00000340648.4	+	12	1171	c.1054G>T	c.(1054-1056)Gat>Tat	p.D352Y		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	352					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CATTTCTGCTGATGAAGATGA	0.428																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(1054-1056)GAT>TAT		ribosomal RNA processing 1 homolog B							124.0	121.0	122.0					21																	45106729		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45106729G>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1054G>T	21.37:g.45106729G>T	ENSP00000339145:p.Asp352Tyr					RRP1B_uc002zdl.2_5'UTR	p.D352Y	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1168	+			352					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1054G>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294876	0.60086	.	.	ENSG00000160208	ENST00000340648	T	0.01203	5.18	5.31	3.51	0.40186	.	0.411084	0.28403	N	0.015468	T	0.04770	0.0129	M	0.75264	2.295	0.42349	D	0.992366	D	0.71674	0.998	P	0.61397	0.888	T	0.16453	-1.0402	10	0.87932	D	0	-20.4826	9.9165	0.41436	0.1548:0.0:0.8452:0.0	.	352	Q14684	RRP1B_HUMAN	Y	352	ENSP00000339145:D352Y	ENSP00000339145:D352Y	D	+	1	0	RRP1B	43931157	1.000000	0.71417	0.408000	0.26446	0.944000	0.59088	2.436000	0.44819	0.634000	0.30469	0.561000	0.74099	GAT		0.428	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		35	84	1	0	2.47316e-13	0.059317	2.59499e-13	35	84		
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:30200815C>T	ENST00000397771.2	-	14	1342	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	ASCC2_ENST00000542393.1_Missense_Mutation_p.E313K|ASCC2_ENST00000307790.3_Missense_Mutation_p.E389K|ASCC2_ENST00000478812.1_5'Flank			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547																																						uc003agr.2		NaN																	0					0						c.(1165-1167)GAG>AAG		activating signal cointegrator 1 complex subunit							230.0	196.0	207.0					22																	30200815		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30200815C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1165G>A	22.37:g.30200815C>T	ENSP00000380877:p.Glu389Lys					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E389K|ASCC2_uc011akr.1_Missense_Mutation_p.E313K	p.E389K	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		13	1270	-			389					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1165G>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384729	0.82792	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.09445	2.99;2.99;2.98	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.972;0.993	T	0.00521	-1.1691	10	0.25751	T	0.34	-30.6634	17.8532	0.88754	0.0:1.0:0.0:0.0	.	313;389	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	K	389;389;313	ENSP00000305502:E389K;ENSP00000380877:E389K;ENSP00000437570:E313K	ENSP00000305502:E389K	E	-	1	0	ASCC2	28530815	1.000000	0.71417	0.986000	0.45419	0.445000	0.32107	6.443000	0.73447	2.769000	0.95229	0.563000	0.77884	GAG		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1		NM_032204		97	315	0	0	0	0.048971	0	97	315		
IL2RB	3560	broad.mit.edu	37	22	37524480	37524480	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:37524480G>C	ENST00000216223.5	-	10	1510	c.1312C>G	c.(1312-1314)Ccc>Gcc	p.P438A		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	438					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGGCTGGGGCCACCGAGG	0.672																																						uc003aqv.1		NaN																	0					0						c.(1312-1314)CCC>GCC		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						11.0	13.0	12.0					22																	37524480		2157	4205	6362	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524480G>C	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1312C>G	22.37:g.37524480G>C	ENSP00000216223:p.Pro438Ala						p.P438A	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1443	-			438			Cytoplasmic (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1312C>G	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947626	0.73787	.	.	ENSG00000100385	ENST00000216223	T	0.12465	2.68	5.01	5.01	0.66863	.	0.892172	0.09719	N	0.764693	T	0.24928	0.0605	M	0.64997	1.995	0.28778	N	0.899972	P	0.49961	0.93	P	0.47915	0.561	T	0.08106	-1.0738	10	0.52906	T	0.07	-2.0898	14.1599	0.65441	0.0:0.0:1.0:0.0	.	438	P14784	IL2RB_HUMAN	A	438	ENSP00000216223:P438A	ENSP00000216223:P438A	P	-	1	0	IL2RB	35854426	0.950000	0.32346	0.831000	0.32960	0.383000	0.30230	1.627000	0.37050	2.461000	0.83175	0.655000	0.94253	CCC		0.672	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1				23	23	0	0	0	0.076483	0	23	23		
LRRN1	57633	broad.mit.edu	37	3	3887651	3887651	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:3887651G>A	ENST00000319331.3	+	2	2087	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	442	Ig-like C2-type.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGGCACGACGGTTTTCCTAG	0.448																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(1324-1326)ACG>ACA		leucine rich repeat neuronal 1 precursor							73.0	77.0	76.0					3																	3887651		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887651G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1326G>A	3.37:g.3887651G>A						SUMF1_uc003bps.1_Intron	p.T442T	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2087	+			442			Ig-like C2-type.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1326G>A	CCDS33685.1																																																																																				0.448	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		31	102	0	0	0	0.045705	0	31	102		
ATG7	10533	broad.mit.edu	37	3	11340868	11340868	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:11340868T>C	ENST00000354449.3	+	3	218	c.193T>C	c.(193-195)Ttg>Ctg	p.L65L	ATG7_ENST00000446450.2_Silent_p.L65L|ATG7_ENST00000354956.5_Silent_p.L65L|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	65					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCGCTTAACATTGGAGTTCAG	0.393																																						uc003bwc.2		NaN																	0				central_nervous_system(1)	1						c.(193-195)TTG>CTG		APG7 autophagy 7-like isoform a							150.0	141.0	144.0					3																	11340868		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11340868T>C	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.193T>C	3.37:g.11340868T>C						ATG7_uc003bwd.2_Silent_p.L65L|ATG7_uc011aum.1_Silent_p.L65L	p.L65L	NM_006395	NP_006386	O95352	ATG7_HUMAN			3	310	+			65					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.193T>C	CCDS2605.1																																																																																				0.393	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3		NM_006395		50	147	0	0	0	0.048971	0	50	147		
LRRFIP2	9209	broad.mit.edu	37	3	37125241	37125241	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37125241C>A	ENST00000336686.4	-	19	1244	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	LRRFIP2_ENST00000421307.1_Missense_Mutation_p.Q388H|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q156H|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q156H|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q132H|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q204H			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	388					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CATTGTCTAACTGTGCATTGG	0.348																																						uc003cgp.2		NaN																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(1162-1164)CAG>CAT		leucine rich repeat (in FLII) interacting							196.0	184.0	188.0					3																	37125241		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37125241C>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1164G>T	3.37:g.37125241C>A	ENSP00000338727:p.Gln388His					LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q204H|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q132H	p.Q388H	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			20	1587	-			388			Potential.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.1164G>T	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054980|4.054980	0.75960|0.75960	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230;ENST00000416425|ENST00000440742	T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.78|5.78	3.96|3.96	0.45880|0.45880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75554|0.75554	0.3865|0.3865	M|M	0.87097|0.87097	2.86|2.86	0.48135|0.48135	D|D	0.999594|0.999594	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.997;0.998;0.999|.	T|T	0.76058|0.76058	-0.3098|-0.3098	10|5	0.87932|.	D|.	0|.	-3.2258|-3.2258	9.7815|9.7815	0.40651|0.40651	0.0:0.7579:0.0:0.2421|0.0:0.7579:0.0:0.2421	.|.	204;132;156;388|.	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608|.	.;.;.;LRRF2_HUMAN|.	H|F	388;132;388;156;204;156;156|1	ENSP00000392217:Q388H;ENSP00000346349:Q132H;ENSP00000338727:Q388H;ENSP00000416364:Q156H;ENSP00000379705:Q204H;ENSP00000405480:Q156H;ENSP00000409574:Q156H|.	ENSP00000338727:Q388H|.	Q|V	-|-	3|1	2|0	LRRFIP2|LRRFIP2	37100245|37100245	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.619000|0.619000	0.24388|0.24388	0.763000|0.763000	0.33175|0.33175	0.561000|0.561000	0.74099|0.74099	CAG|GTT		0.348	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3		NM_006309		19	74	1	0	2.4624e-09	0.049695	2.53377e-09	19	74		
GOLGA4	2803	broad.mit.edu	37	3	37336557	37336557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37336557C>G	ENST00000361924.2	+	6	1044	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L246V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	224					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATCAGTGTTCTCCAAACTCA	0.363																																						uc003cgv.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(670-672)CTC>GTC		golgi autoantigen, golgin subfamily a, 4							71.0	75.0	73.0					3																	37336557		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37336557C>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.670C>G	3.37:g.37336557C>G	ENSP00000354486:p.Leu224Val					GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.L246V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L105V	p.L224V	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			6	974	+			224			Potential.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.670C>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769868	0.90020	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.98	4.98	0.66077	.	0.000000	0.31760	N	0.007113	T	0.75997	0.3926	M	0.76328	2.33	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.85130	0.997;0.996;0.994	T	0.74682	-0.3583	10	0.34782	T	0.22	.	18.603	0.91256	0.0:1.0:0.0:0.0	.	224;246;224	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	V	224;246;229;95	ENSP00000354486:L224V;ENSP00000349305:L246V;ENSP00000387633:L229V;ENSP00000405842:L95V	ENSP00000349305:L246V	L	+	1	0	GOLGA4	37311561	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.854000	0.62918	2.482000	0.83794	0.467000	0.42956	CTC		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		NM_002078		36	85	0	0	0	0.064281	0	36	85		
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs200502357		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCACTGGACCGCATCAACCGT	0.632																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(211-213)CGC>CAC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						127.0	115.0	119.0					3																	51743211		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743211G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.212G>A	3.37:g.51743211G>A	ENSP00000378492:p.Arg71His					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.R71H	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	451	+			71			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.212G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247197	0.80024	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86497	-2.13;-2.13	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.167226	0.46758	D	0.000274	T	0.81093	0.4751	L	0.56199	1.76	0.42153	D	0.991563	B	0.28419	0.211	B	0.21917	0.037	T	0.78252	-0.2276	10	0.62326	D	0.03	.	5.1701	0.15105	0.2123:0.1632:0.6245:0.0	.	71	Q14416	GRM2_HUMAN	H	71	ENSP00000378492:R71H;ENSP00000408906:R71H	ENSP00000296479:R71H	R	+	2	0	GRM2	51718251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.691000	0.54720	1.245000	0.43885	-0.137000	0.14449	CGC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				52	202	0	0	0	0.048971	0	52	202		
ERC2	26059	broad.mit.edu	37	3	56468686	56468686	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:56468686T>C	ENST00000288221.6	-	2	605	c.350A>G	c.(349-351)tAc>tGc	p.Y117C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	117						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGATCTGTGTATGAAAGGAC	0.507																																						uc003dhr.1		NaN																	0				ovary(2)	2						c.(349-351)TAC>TGC		cytomatrix protein p110							187.0	182.0	184.0					3																	56468686		2012	4168	6180	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468686T>C	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.350A>G	3.37:g.56468686T>C	ENSP00000288221:p.Tyr117Cys						p.Y117C	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	606	-			117					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.350A>G	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944220	0.73672	.	.	ENSG00000187672	ENST00000288221	T	0.31510	1.49	5.79	5.79	0.91817	.	0.058614	0.64402	D	0.000001	T	0.35566	0.0936	L	0.36672	1.1	0.51767	D	0.999931	D	0.63046	0.992	P	0.49561	0.615	T	0.13683	-1.0500	10	0.87932	D	0	-22.9613	16.1199	0.81342	0.0:0.0:0.0:1.0	.	117	O15083	ERC2_HUMAN	C	117	ENSP00000288221:Y117C	ENSP00000288221:Y117C	Y	-	2	0	ERC2	56443726	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	TAC		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2		NM_015576		69	174	0	0	0	0.048971	0	69	174		
MGLL	11343	broad.mit.edu	37	3	127439916	127439916	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:127439916C>G	ENST00000434178.2	-	5	1356	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	MGLL_ENST00000265052.5_Missense_Mutation_p.E164Q|MGLL_ENST00000398104.1_Missense_Mutation_p.E154Q|MGLL_ENST00000453507.2_Missense_Mutation_p.E164Q|MGLL_ENST00000398101.3_Missense_Mutation_p.E128Q			Q99685	MGLL_HUMAN	monoglyceride lipase	154					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GTTGCAGATTCAGGATTGGCA	0.537																																						uc003ejx.2		NaN																	0					0						c.(460-462)GAA>CAA		monoglyceride lipase isoform 2							70.0	73.0	72.0					3																	127439916		1937	4143	6080	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127439916C>G	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.460G>C	3.37:g.127439916C>G	ENSP00000402798:p.Glu154Gln					MGLL_uc003ejw.2_Missense_Mutation_p.E164Q|MGLL_uc011bko.1_Missense_Mutation_p.E164Q|MGLL_uc010hsp.1_Missense_Mutation_p.E154Q|MGLL_uc003ejv.2_Missense_Mutation_p.E128Q	p.E154Q	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN			5	605	-			154					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.460G>C	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451687	0.63290	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000487473;ENST00000536024;ENST00000453507;ENST00000484451	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.21	5.5	5.5	0.81552	.	0.148651	0.64402	D	0.000015	T	0.57359	0.2048	L	0.41824	1.3	0.52099	D	0.999946	P;B;B;B;P	0.35124	0.485;0.382;0.126;0.434;0.454	B;B;B;B;B	0.36289	0.212;0.133;0.08;0.091;0.221	T	0.53514	-0.8428	10	0.18710	T	0.47	-23.5491	13.8649	0.63583	0.0:0.8467:0.1533:0.0	.	164;154;154;164;128	B7Z9D1;B2ZGL7;Q99685;B3KRC2;E7EWX8	.;.;MGLL_HUMAN;.;.	Q	154;164;154;128;78;164;164;78	ENSP00000402798:E154Q;ENSP00000265052:E164Q;ENSP00000381176:E154Q;ENSP00000381173:E128Q;ENSP00000419340:E78Q	ENSP00000265052:E164Q	E	-	1	0	MGLL	128922606	0.999000	0.42202	0.821000	0.32701	0.988000	0.76386	4.266000	0.58871	2.587000	0.87381	0.591000	0.81541	GAA		0.537	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2		NM_007283		26	85	0	0	0	0.037714	0	26	85		
ECE2	9718	broad.mit.edu	37	3	183995773	183995773	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:183995773C>G	ENST00000402825.3	+	5	893	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ECE2_ENST00000357474.5_Missense_Mutation_p.S226C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.S151C|ECE2_ENST00000404464.3_Missense_Mutation_p.S180C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	298	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTACCTATCTTGCCTACAG	0.562																																						uc003fni.3		NaN																	0				ovary(2)|skin(2)	4						c.(892-894)TCT>TGT		endothelin converting enzyme 2 isoform A							76.0	72.0	73.0					3																	183995773		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995773C>G	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.893C>G	3.37:g.183995773C>G	ENSP00000384223:p.Ser298Cys					ECE2_uc011brg.1_Missense_Mutation_p.S226C|ECE2_uc011brh.1_Missense_Mutation_p.S151C|ECE2_uc003fnl.3_Missense_Mutation_p.S226C|ECE2_uc003fnm.3_Missense_Mutation_p.S180C|ECE2_uc003fnk.3_Missense_Mutation_p.S151C|ECE2_uc011bri.1_Missense_Mutation_p.S213C|ECE2_uc010hxv.2_Translation_Start_Site	p.S298C	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	931	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		298			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.893C>G	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396225	0.83011	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.17	4.3	0.51218	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.83275	0.986;0.996;0.992;0.976;0.967;0.984	D	0.93075	0.6486	10	0.87932	D	0	-28.7099	12.3855	0.55330	0.0:0.9188:0.0:0.0812	.	151;226;180;226;151;298	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	C	298;151;180;226;172	ENSP00000384223:S298C;ENSP00000352052:S151C;ENSP00000385846:S180C;ENSP00000350066:S226C;ENSP00000398444:S172C	ENSP00000350066:S226C	S	+	2	0	ECE2	185478467	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.289000	0.78701	1.427000	0.47276	0.561000	0.74099	TCT		0.562	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		40	115	0	0	0	0.086207	0	40	115		
ST6GAL1	6480	broad.mit.edu	37	3	186760727	186760727	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:186760727G>T	ENST00000169298.3	+	4	910	c.236G>T	c.(235-237)gGc>gTc	p.G79V	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G79V	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	79					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CAGACCCTCGGCAGTCTCAGA	0.567																																						uc003frb.2		NaN																	0				central_nervous_system(1)	1						c.(235-237)GGC>GTC		ST6 beta-galactosamide							41.0	47.0	45.0					3																	186760727		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760727G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.236G>T	3.37:g.186760727G>T	ENSP00000169298:p.Gly79Val					ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.G79V	p.G79V	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	668	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		79			Lumenal (Potential).		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.236G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189555	0.09547	.	.	ENSG00000073849	ENST00000169298;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000448044;ENST00000423451;ENST00000446170	T;T	0.23147	1.92;1.92	5.4	3.48	0.39840	.	0.554792	0.20686	N	0.087551	T	0.20536	0.0494	L	0.50333	1.59	0.09310	N	0.999997	B	0.17038	0.02	B	0.15870	0.014	T	0.12477	-1.0546	10	0.27785	T	0.31	-23.3225	6.9952	0.24779	0.0926:0.1751:0.7323:0.0	.	79	P15907	SIAT1_HUMAN	V	79	ENSP00000169298:G79V;ENSP00000389337:G79V	ENSP00000169298:G79V	G	+	2	0	ST6GAL1	188243421	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.036000	0.12185	1.407000	0.46875	0.655000	0.94253	GGC		0.567	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1		NM_173216		43	137	1	0	9.85913e-13	0.11126	1.02439e-12	43	137		
LMLN	89782	broad.mit.edu	37	3	197726164	197726164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:197726164C>G	ENST00000330198.4	+	11	1205	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E	LMLN_ENST00000482695.1_Missense_Mutation_p.Q343E|LMLN_ENST00000420910.2_Missense_Mutation_p.Q395E|LMLN_ENST00000332636.5_Missense_Mutation_p.Q343E	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	395					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCACACTCAGAATCGAGT	0.388																																						uc011buo.1		NaN																	0				skin(1)	1						c.(1183-1185)CAG>GAG		leishmanolysin-like isoform 2							103.0	98.0	100.0					3																	197726164		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197726164C>G	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1183C>G	3.37:g.197726164C>G	ENSP00000328829:p.Gln395Glu					LMLN_uc003fyt.2_Missense_Mutation_p.Q343E|LMLN_uc010iar.2_Missense_Mutation_p.Q395E|LMLN_uc010ias.2_Missense_Mutation_p.Q343E|LMLN_uc003fyu.2_Missense_Mutation_p.Q155E	p.Q395E	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	11	1205	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	395					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1183C>G	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435160	0.62955	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.28	4.28	0.50868	.	0.294534	0.33854	N	0.004481	T	0.47838	0.1467	L	0.41632	1.29	0.58432	D	0.999999	P;D;D;B;B	0.69078	0.599;0.997;0.977;0.392;0.34	B;D;P;B;B	0.69142	0.374;0.962;0.798;0.374;0.257	T	0.38001	-0.9681	10	0.02654	T	1	-13.2811	14.3067	0.66389	0.0:1.0:0.0:0.0	.	395;343;395;387;343	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	E	343;395;395;343	ENSP00000418324:Q343E;ENSP00000328829:Q395E;ENSP00000410926:Q395E;ENSP00000328611:Q343E	ENSP00000328829:Q395E	Q	+	1	0	LMLN	199210561	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.136000	0.71703	2.218000	0.71995	0.555000	0.69702	CAG		0.388	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1		NM_033029		17	58	0	0	0	0.043863	0	17	58		
RNF212	285498	broad.mit.edu	37	4	1107304	1107304	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:1107304A>T	ENST00000433731.2	-	0	10				RNF212_ENST00000382968.5_De_novo_Start_OutOfFrame|RP11-20I20.2_ENST00000504969.1_RNA|RNF212_ENST00000505730.1_5'UTR|TMED11P_ENST00000502630.1_RNA|RNF212_ENST00000333673.5_De_novo_Start_OutOfFrame			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		AGCCCACGCAAGGTTGGGACC	0.736																																						uc003gcj.2		NaN																	0					0						c.(-53--49)CCTTG>CCATG		ring finger protein 212 isoform a							20.0	16.0	18.0					4																	1107304		1321	2294	3615			285498						zinc ion binding	g.chr4:1107304A>T	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.-52T>A	4.37:g.1107304A>T						RNF212_uc003gci.2_Translation_Start_Site|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Translation_Start_Site|RNF212_uc003gck.2_Translation_Start_Site		NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	1	279	-								C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Translation_Start_Site	SNP	ENST00000433731.2	37	c.-51T>A	CCDS46996.1																																																																																				0.736	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2		NM_194439		10	17	0	0	0	0.080935	0	10	17		
KIAA0232	9778	broad.mit.edu	37	4	6862671	6862671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:6862671C>G	ENST00000307659.5	+	7	1017	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L188V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	188							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACCAGTTTGCCTGCAAGAAAT	0.408																																						uc003gjr.3		NaN																	0				ovary(2)	2						c.(562-564)CTG>GTG		hypothetical protein LOC9778							141.0	139.0	139.0					4																	6862671		1954	4157	6111	SO:0001583	missense	9778						ATP binding	g.chr4:6862671C>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.562C>G	4.37:g.6862671C>G	ENSP00000303928:p.Leu188Val					KIAA0232_uc003gjq.3_Missense_Mutation_p.L188V	p.L188V	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	1025	+			188					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.562C>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011348	0.93346	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75572	-0.3271	9	0.59425	D	0.04	-8.6217	19.4461	0.94847	0.0:1.0:0.0:0.0	.	188	Q92628	K0232_HUMAN	V	188	.	ENSP00000303928:L188V	L	+	1	2	KIAA0232	6913572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.735000	0.68587	2.603000	0.88011	0.655000	0.94253	CTG		0.408	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743		50	97	0	0	0	0.048971	0	50	97		
CC2D2A	57545	broad.mit.edu	37	4	15542459	15542459	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:15542459G>A	ENST00000503292.1	+	18	2183		c.e18-1		CC2D2A_ENST00000389652.5_Splice_Site|CC2D2A_ENST00000513811.1_Splice_Site|CC2D2A_ENST00000413206.1_Splice_Site|CC2D2A_ENST00000424120.1_Splice_Site	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCCTTTTGCAGAGCGGAGGTC	0.433																																						uc010idv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.e18-1		coiled-coil and C2 domain containing 2A isoform							41.0	40.0	40.0					4																	15542459		1888	4118	6006	SO:0001630	splice_region_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15542459G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2004-1G>A	4.37:g.15542459G>A						CC2D2A_uc003gnx.2_Splice_Site_p.R619_splice|CC2D2A_uc003gnz.1_Splice_Site|CC2D2A_uc003goa.1_Splice_Site	p.R668_splice	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			18	2249	+								A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Splice_Site	SNP	ENST00000503292.1	37	c.2004_splice	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524036	0.27299	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5889	0.91202	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CC2D2A	15151557	1.000000	0.71417	0.993000	0.49108	0.014000	0.08584	9.215000	0.95146	2.392000	0.81423	0.563000	0.77884	.		0.433	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522	Intron	3	10	0	0	0	0.004672	0	3	10		
UCHL1	7345	broad.mit.edu	37	4	41263746	41263746	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:41263746C>T	ENST00000284440.4	+	5	484	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	UCHL1_ENST00000508768.1_Silent_p.L114L|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Silent_p.L114L|UCHL1_ENST00000503431.1_Silent_p.L114L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	114					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						TGGATCAGTTCTGAAACAGTT	0.343																																						uc003gvo.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(340-342)CTG>TTG		ubiquitin carboxyl-terminal esterase L1							71.0	77.0	75.0					4																	41263746		2203	4300	6503	SO:0001819	synonymous_variant	7345				cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr4:41263746C>T	BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.340C>T	4.37:g.41263746C>T						UCHL1_uc003gvp.2_Silent_p.L33L|UCHL1_uc003gvq.2_Silent_p.L33L|UCHL1_uc003gvr.2_Silent_p.L33L|UCHL1_uc003gvs.2_Silent_p.L33L	p.L114L	NM_004181	NP_004172	P09936	UCHL1_HUMAN			5	436	+			114					Q4W5K6|Q71UM0	Silent	SNP	ENST00000284440.4	37	c.340C>T	CCDS3462.1																																																																																				0.343	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1		NM_004181		18	41	0	0	0	0.038395	0	18	41		
LPHN3	23284	broad.mit.edu	37	4	62813863	62813863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:62813863T>C	ENST00000514591.1	+	16	2799	c.2470T>C	c.(2470-2472)Tcc>Ccc	p.S824P	LPHN3_ENST00000507625.1_Missense_Mutation_p.S892P|LPHN3_ENST00000511324.1_Missense_Mutation_p.S892P|LPHN3_ENST00000506746.1_Missense_Mutation_p.S892P|LPHN3_ENST00000507164.1_Missense_Mutation_p.S892P|LPHN3_ENST00000545650.1_Missense_Mutation_p.S824P|LPHN3_ENST00000508946.1_Missense_Mutation_p.S824P|LPHN3_ENST00000508693.1_Missense_Mutation_p.S892P|LPHN3_ENST00000514157.1_Missense_Mutation_p.S824P|LPHN3_ENST00000512091.2_Missense_Mutation_p.S824P|LPHN3_ENST00000514996.1_Missense_Mutation_p.S824P|LPHN3_ENST00000509896.1_Missense_Mutation_p.S892P|LPHN3_ENST00000504896.1_Missense_Mutation_p.S824P|LPHN3_ENST00000506700.1_Missense_Mutation_p.S824P|LPHN3_ENST00000506720.1_Missense_Mutation_p.S892P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	811	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGGAGCTACTCCAAGCGTAC	0.373																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2470-2472)TCC>CCC		latrophilin 3 precursor							87.0	77.0	80.0					4																	62813863		1869	4098	5967	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813863T>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2470T>C	4.37:g.62813863T>C	ENSP00000422533:p.Ser824Pro					LPHN3_uc003hcq.3_Missense_Mutation_p.S824P|LPHN3_uc003hct.2_Missense_Mutation_p.S217P	p.S824P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			14	2643	+			811			GPS.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2470T>C	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629106|3.629106	0.67015|0.67015	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.73469	.|-0.72;-0.71;-0.74;-0.73;-0.72;-0.71;-0.73;-0.73;-0.71;-0.72;-0.72;-0.74;-0.75;-0.74;-0.73	5.98|5.98	4.79|4.79	0.61399|0.61399	.|GPS domain (3);	.|0.110120	.|0.64402	.|D	.|0.000005	T|T	0.79656|0.79656	0.4483|0.4483	M|M	0.90977|0.90977	3.165|3.165	0.42088|0.42088	D|D	0.991285|0.991285	.|P;P;P	.|0.42203	.|0.773;0.773;0.731	.|B;B;B	.|0.42112	.|0.376;0.376;0.369	T|T	0.81810|0.81810	-0.0762|-0.0762	5|10	.|0.87932	.|D	.|0	.|.	8.9623|8.9623	0.35854|0.35854	0.1153:0.0:0.2406:0.6441|0.1153:0.0:0.2406:0.6441	.|.	.|824;811;824	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	P|P	281|824;824;892;892;824;824;811;824;892;892;892;824;824;824;892;892;824	.|ENSP00000423388:S824P;ENSP00000422533:S824P;ENSP00000423787:S892P;ENSP00000425033:S892P;ENSP00000424120:S824P;ENSP00000439831:S824P;ENSP00000421476:S892P;ENSP00000424030:S892P;ENSP00000421372:S892P;ENSP00000425201:S824P;ENSP00000423434:S824P;ENSP00000421627:S824P;ENSP00000420931:S892P;ENSP00000425884:S892P;ENSP00000424258:S824P	.|ENSP00000280009:S824P	L|S	+|+	2|1	0|0	LPHN3|LPHN3	62496458|62496458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.278000|4.278000	0.58946|0.58946	1.080000|1.080000	0.41073|0.41073	0.529000|0.529000	0.55759|0.55759	CTC|TCC		0.373	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				6	15	0	0	0	0.02938	0	6	15		
SHROOM3	57619	broad.mit.edu	37	4	77357255	77357255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:77357255C>G	ENST00000296043.6	+	1	1003	c.50C>G	c.(49-51)tCt>tGt	p.S17C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	17					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACATTAAACTCTAACACGGCC	0.483																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(49-51)TCT>TGT		shroom family member 3 protein							180.0	175.0	176.0					4																	77357255		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77357255C>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.50C>G	4.37:g.77357255C>G	ENSP00000296043:p.Ser17Cys						p.S17C	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		1	1003	+			17					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.50C>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384922	0.25031	.	.	ENSG00000138771	ENST00000296043	T	0.21932	1.98	5.12	2.39	0.29439	PDZ/DHR/GLGF (1);	1.127980	0.06676	N	0.767184	T	0.11623	0.0283	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.29524	0.103	T	0.26395	-1.0104	10	0.37606	T	0.19	-2.9979	5.9302	0.19134	0.0:0.4474:0.378:0.1746	.	17	Q8TF72	SHRM3_HUMAN	C	17	ENSP00000296043:S17C	ENSP00000296043:S17C	S	+	2	0	SHROOM3	77576279	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.040000	0.13905	0.793000	0.33875	0.585000	0.79938	TCT		0.483	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		66	131	0	0	0	0.048971	0	66	131		
ATOH1	474	broad.mit.edu	37	4	94750250	94750250	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:94750250G>T	ENST00000306011.3	+	1	209	c.173G>T	c.(172-174)aGc>aTc	p.S58I		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	58					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCCTGGACAGCACCGACCCA	0.677																																						uc003hta.1		NaN																	0					0						c.(172-174)AGC>ATC		atonal homolog 1							32.0	34.0	33.0					4																	94750250		2202	4296	6498	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750250G>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.173G>T	4.37:g.94750250G>T	ENSP00000302216:p.Ser58Ile						p.S58I	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	173	+		Hepatocellular(203;0.114)	58					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.173G>T	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909193	0.52439	.	.	ENSG00000172238	ENST00000306011	D	0.98493	-4.96	4.2	4.2	0.49525	.	0.252040	0.45126	D	0.000396	D	0.95701	0.8602	N	0.24115	0.695	0.43588	D	0.995935	P	0.36733	0.567	B	0.40534	0.332	D	0.96273	0.9200	10	0.72032	D	0.01	-1.8043	14.0965	0.65027	0.0:0.0:1.0:0.0	.	58	Q92858	ATOH1_HUMAN	I	58	ENSP00000302216:S58I	ENSP00000302216:S58I	S	+	2	0	ATOH1	94969273	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.756000	0.68757	2.164000	0.68074	0.478000	0.44815	AGC		0.677	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1		NM_005172		27	47	1	0	1.16021e-09	0.034045	1.19963e-09	27	47		
ADCY2	108	broad.mit.edu	37	5	7695949	7695949	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:7695949C>G	ENST00000338316.4	+	6	1043	c.954C>G	c.(952-954)ctC>ctG	p.L318L	ADCY2_ENST00000537121.1_Silent_p.L138L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	318					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGAATGAGCTCTTTGGAAAGT	0.433																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(952-954)CTC>CTG		adenylate cyclase 2							115.0	106.0	109.0					5																	7695949		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7695949C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.954C>G	5.37:g.7695949C>G						ADCY2_uc011cmo.1_Silent_p.L138L	p.L318L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			6	1021	+			318			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.954C>G	CCDS3872.2																																																																																				0.433	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		14	33	0	0	0	0.0333	0	14	33		
MARCH11	441061	broad.mit.edu	37	5	16067768	16067768	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:16067768T>C	ENST00000332432.8	-	4	1220	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	341					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAAGTCCTACTTGTGGAAGAC	0.473																																						uc003jfo.2		NaN																	0					0						c.(1021-1023)AGT>GGT		membrane-associated ring finger (C3HC4) 11							99.0	97.0	98.0					5																	16067768		1929	4135	6064	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067768T>C	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1021A>G	5.37:g.16067768T>C	ENSP00000333181:p.Ser341Gly					MARCH11_uc010itw.1_Missense_Mutation_p.S97G	p.S341G	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1234	-			341					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.1021A>G	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999235	0.35226	.	.	ENSG00000183654	ENST00000332432	T	0.19806	2.12	5.43	4.27	0.50696	.	0.000000	0.52532	D	0.000073	T	0.12092	0.0294	L	0.29908	0.895	0.24408	N	0.994671	B	0.06786	0.001	B	0.04013	0.001	T	0.15867	-1.0422	10	0.20519	T	0.43	-22.786	4.4977	0.11848	0.1627:0.1334:0.0:0.7039	.	341	A6NNE9	MARHB_HUMAN	G	341	ENSP00000333181:S341G	ENSP00000333181:S341G	S	-	1	0	MARCH11	16120768	0.268000	0.24133	0.998000	0.56505	0.869000	0.49853	0.779000	0.26746	2.174000	0.68829	0.528000	0.53228	AGT		0.473	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2		NM_001102562		28	62	0	0	0	0.108266	0	28	62		
BASP1	10409	broad.mit.edu	37	5	17275799	17275799	+	Silent	SNP	C	C	T	rs374321272		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:17275799C>T	ENST00000322611.3	+	2	734	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	158					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CAGCTCCTGCCGCCCAGGAGA	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		9082	0.0		0.001	False		,,,				2504	0.0					uc003jfx.2		NaN																	0					0						c.(472-474)GCC>GCT		brain abundant, membrane attached signal protein		C		0,4120		0,0,2060	5.0	7.0	6.0		474	1.2	0.1	5		6	1,8225		0,1,4112	no	coding-synonymous	BASP1	NM_006317.3		0,1,6172	TT,TC,CC		0.0122,0.0,0.0081		158/228	17275799	1,12345	2060	4113	6173	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275799C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.474C>T	5.37:g.17275799C>T							p.A158A	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	653	+			158					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.474C>T	CCDS3888.1																																																																																				0.711	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2				6	15	0	0	0	0.02938	0	6	15		
ANKRD55	79722	broad.mit.edu	37	5	55407474	55407475	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:55407474_55407475CC>AA	ENST00000341048.4	-	10	1251_1252	c.1100_1101GG>TT	c.(1099-1101)aGG>aTT	p.R367I	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R324I|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R79I	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	367										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTATCGGTCCCTGCTGGGATC	0.505																																						uc003jqu.2		NaN																	0				skin(1)	1						c.(1099-1101)AGG>ATT		ankyrin repeat domain 55 isoform 1																																				SO:0001583	missense	79722							g.chr5:55407474_55407475CC>AA	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1100_1101delinsAA	5.37:g.55407474_55407475delinsAA	ENSP00000342295:p.Arg367Ile					ANKRD55_uc003jqt.2_Missense_Mutation_p.R79I	p.R367I	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1252_1253	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	366					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	DNP	ENST00000341048.4	37	c.1100_1101GG>TT	CCDS34161.1																																																																																				0.505	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669		81	185	0	0	0	0.004672	0	81	185		
ZNF608	57507	broad.mit.edu	37	5	123983602	123983602	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:123983602T>C	ENST00000306315.5	-	4	2910	c.2475A>G	c.(2473-2475)aaA>aaG	p.K825K	ZNF608_ENST00000504926.1_Silent_p.K398K	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	825							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCCCGTCTCTTTCCCTTCTT	0.473																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(2473-2475)AAA>AAG		zinc finger protein 608							167.0	174.0	172.0					5																	123983602		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983602T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2475A>G	5.37:g.123983602T>C						ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.K825K|ZNF608_uc003ktt.1_Silent_p.K825K	p.K825K	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2598	-		all_cancers(142;0.186)|Prostate(80;0.081)	825					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2475A>G	CCDS34219.1																																																																																				0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		76	174	0	0	0	0.048971	0	76	174		
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Missense_Mutation	SNP	C	C	T	rs200060005		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:127674667C>T	ENST00000508053.1	-	32	4404	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.E1144K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1111K			P35556	FBN2_HUMAN	fibrillin 2	1144	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1144K(1)		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)		TCATAGCCTTCGAAGCACTCG	0.507																																						uc003kuu.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3430-3432)GAA>AAA		fibrillin 2 precursor							106.0	85.0	92.0					5																	127674667		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.chr5:127674667C>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.3430G>A	5.37:g.127674667C>T	ENSP00000424571:p.Glu1144Lys					FBN2_uc003kuv.2_Missense_Mutation_p.E1111K	p.E1144K	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)	26	3869	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1144			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3430G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818681	0.71028	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92348	-3.02;-3.02;-3.02	5.13	4.25	0.50352	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.496860	0.21340	N	0.076149	D	0.87354	0.6156	L	0.28649	0.875	0.54753	D	0.999984	P;P	0.44478	0.836;0.799	B;B	0.40782	0.34;0.298	D	0.85726	0.1328	10	0.27785	T	0.31	.	16.2378	0.82389	0.0:0.8672:0.1328:0.0	.	1111;1144	D6RJI3;P35556	.;FBN2_HUMAN	K	1144;1144;1111	ENSP00000262464:E1144K;ENSP00000424571:E1144K;ENSP00000425596:E1111K	ENSP00000262464:E1144K	E	-	1	0	FBN2	127702566	0.989000	0.36119	1.000000	0.80357	0.972000	0.66771	2.420000	0.44679	1.491000	0.48482	0.585000	0.79938	GAA		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		32	84	0	0	0	0.054565	0	32	84		
REEP2	51308	broad.mit.edu	37	5	137777134	137777134	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:137777134G>A	ENST00000254901.5	+	3	288	c.166G>A	c.(166-168)Gat>Aat	p.D56N	REEP2_ENST00000506158.1_Missense_Mutation_p.D18N|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Missense_Mutation_p.D56N	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	56					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACGCTCACGGATATAGTGCT	0.602																																						uc003lcz.2		NaN																	0					0						c.(166-168)GAT>AAT		receptor accessory protein 2							127.0	102.0	111.0					5																	137777134		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137777134G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.166G>A	5.37:g.137777134G>A	ENSP00000254901:p.Asp56Asn					REEP2_uc003lda.2_Missense_Mutation_p.D56N|REEP2_uc011cyt.1_Missense_Mutation_p.D17N	p.D56N	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	288	+			56					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.166G>A	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929011	0.92389	.	.	ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158	D;D;D	0.92858	-3.12;-3.12;-3.12	4.17	4.17	0.49024	.	0.120705	0.53938	D	0.000048	D	0.96059	0.8716	M	0.84326	2.69	0.80722	D	1	D;D	0.71674	0.991;0.998	D;D	0.77557	0.978;0.99	D	0.96794	0.9584	10	0.87932	D	0	-10.0084	16.6036	0.84822	0.0:0.0:1.0:0.0	.	56;56	A8K3D2;Q9BRK0	.;REEP2_HUMAN	N	56;56;18	ENSP00000367590:D56N;ENSP00000254901:D56N;ENSP00000422530:D18N	ENSP00000254901:D56N	D	+	1	0	REEP2	137805033	1.000000	0.71417	0.158000	0.22627	0.950000	0.60333	9.498000	0.97972	2.314000	0.78098	0.462000	0.41574	GAT		0.602	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1		NM_016606		29	57	0	0	0	0.050027	0	29	57		
PCDHA4	56144	broad.mit.edu	37	5	140188665	140188665	+	Silent	SNP	C	C	T	rs564951591		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140188665C>T	ENST00000530339.1	+	1	1893	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.I631I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.I631I|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	631	Cadherin 6. {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)			CTGGCGAGATCAGCACAACGC	0.682																																						uc003lhi.2		NaN																	0				ovary(4)|skin(2)	6						c.(1891-1893)ATC>ATT		protocadherin alpha 4 isoform 1 precursor							101.0	99.0	100.0					5																	140188665		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188665C>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.1893C>T	5.37:g.140188665C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.I631I|PCDHA4_uc011daa.1_Silent_p.I631I	p.I631I	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1994	+			631			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1893C>T	CCDS54916.1																																																																																				0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2		NM_018907		59	132	0	0	0	0.048971	0	59	132		
PCDHGB1	56104	broad.mit.edu	37	5	140730728	140730728	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140730728G>A	ENST00000523390.1	+	1	901	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAACCAATGGCACATTGGA	0.418																																						uc003ljo.1		NaN																	0					0						c.(901-903)GGC>AGC		protocadherin gamma subfamily B, 1 isoform 1							127.0	126.0	126.0					5																	140730728		1939	4152	6091	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730728G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.901G>A	5.37:g.140730728G>A	ENSP00000429273:p.Gly301Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.G301S	p.G301S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	901	+			301			Extracellular (Potential).|Cadherin 3.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.901G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	9.225	1.034464	0.19590	.	.	ENSG00000254221	ENST00000523390	T	0.01629	4.72	5.43	3.64	0.41730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03739	0.0106	L	0.60012	1.86	0.09310	N	1	P;P	0.37276	0.534;0.589	B;B	0.43018	0.283;0.405	T	0.32771	-0.9894	9	0.48119	T	0.1	.	9.2864	0.37760	0.2247:0.0:0.7753:0.0	.	301;301	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	301	ENSP00000429273:G301S	ENSP00000429273:G301S	G	+	1	0	PCDHGB1	140710912	0.997000	0.39634	0.172000	0.22920	0.288000	0.27193	4.433000	0.59929	0.765000	0.33221	0.563000	0.77884	GGC		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1		NM_018922		47	97	0	0	0	0.048971	0	47	97		
FOXC1	2296	broad.mit.edu	37	6	1612318	1612318	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:1612318C>T	ENST00000380874.2	+	1	1638	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	546					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CCGGAGCTTTCGTCTACGACT	0.498																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2		NaN																	0				ovary(1)	1						c.(1636-1638)TTC>TTT		forkhead box C1							82.0	74.0	77.0					6																	1612318		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612318C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1638C>T	6.37:g.1612318C>T							p.F546F	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1638	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	546					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.1638C>T	CCDS4473.1																																																																																				0.498	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1				14	21	0	0	0	0.105934	0	14	21		
HLA-DMB	3109	broad.mit.edu	37	6	32906580	32906580	+	Missense_Mutation	SNP	G	G	A	rs12176347	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:32906580G>A	ENST00000418107.2	-	2	480	c.218C>T	c.(217-219)gCg>gTg	p.A73V	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.A73V|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.A105V	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GAGGACATTCGCCAAGCTATT	0.527																																						uc003ocl.1		NaN																	0					0						c.(217-219)GCG>GTG		major histocompatibility complex, class II, DM							122.0	122.0	122.0					6																	32906580		1511	2709	4220	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906580G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.218C>T	6.37:g.32906580G>A	ENSP00000398890:p.Ala73Val					HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V	p.A73V	NM_002118	NP_002109	P28068	DMB_HUMAN			2	451	-			73			Beta-1.|Lumenal (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.218C>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322547	0.81580	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.23552	1.9;1.9;1.9	5.07	5.07	0.68467	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.839266	0.10296	N	0.691665	T	0.44095	0.1277	M	0.75264	2.295	0.44330	D	0.997218	D;D;D	0.89917	0.999;1.0;1.0	D;P;D	0.91635	0.966;0.812;0.999	T	0.10800	-1.0614	9	.	.	.	.	13.823	0.63333	0.0:0.0:1.0:0.0	rs12176347;rs12176347	73;73;82	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	V	73;73;73;105	ENSP00000398890:A73V;ENSP00000391010:A73V;ENSP00000412457:A105V	.	A	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014558	0.984000	0.35163	0.938000	0.37757	0.006000	0.05464	4.418000	0.59828	2.631000	0.89168	0.637000	0.83480	GCG		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2		NM_002118		47	80	0	0	0	0.045515	0	47	80		
RWDD2A	112611	broad.mit.edu	37	6	83905938	83905938	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:83905938G>C	ENST00000369724.4	+	3	1031	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.E222Q	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	276										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GCACAAAAGTGAGCATGTTTT	0.363																																						uc003pjx.3		NaN																	0					0						c.(826-828)GAG>CAG		RWD domain containing 2A							65.0	68.0	67.0					6																	83905938		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905938G>C	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.826G>C	6.37:g.83905938G>C	ENSP00000358739:p.Glu276Gln					PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.E201Q	p.E276Q	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	1097	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	276					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.826G>C	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475498	0.63737	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.65	5.65	0.86999	Domain of unknown function DUF1115 (1);	0.076646	0.53938	D	0.000049	T	0.56906	0.2017	L	0.38531	1.155	0.36025	D	0.839015	D	0.61697	0.99	P	0.59357	0.856	T	0.48801	-0.9003	9	0.28530	T	0.3	-28.1983	19.9142	0.97043	0.0:0.0:1.0:0.0	.	276	Q9UIY3	RWD2A_HUMAN	Q	276;222	.	ENSP00000358739:E276Q	E	+	1	0	RWDD2A	83962657	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.258000	0.72487	2.941000	0.99782	0.655000	0.94253	GAG		0.363	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2		NM_033411		23	55	0	0	0	0.069288	0	23	55		
PRSS35	167681	broad.mit.edu	37	6	84234199	84234199	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:84234199G>A	ENST00000369700.3	+	2	1216	c.1039G>A	c.(1039-1041)Ggt>Agt	p.G347S	PRSS35_ENST00000536636.1_Missense_Mutation_p.G347S	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	347	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTCCACCGGTTCGGGGGT	0.512																																						uc003pjz.2		NaN																	0				ovary(1)	1						c.(1039-1041)GGT>AGT		protease, serine, 35 precursor							93.0	95.0	94.0					6																	84234199		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234199G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1039G>A	6.37:g.84234199G>A	ENSP00000358714:p.Gly347Ser					PRSS35_uc010kbm.2_Missense_Mutation_p.G347S	p.G347S	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1202	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	347			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1039G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985810	0.93044	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	D;D	0.93859	-3.3;-3.3	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.103356	0.64402	D	0.000003	D	0.96969	0.9010	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96816	0.9600	10	0.87932	D	0	-22.8325	20.2946	0.98546	0.0:0.0:1.0:0.0	.	347	Q8N3Z0	PRS35_HUMAN	S	347	ENSP00000440870:G347S;ENSP00000358714:G347S	ENSP00000358714:G347S	G	+	1	0	PRSS35	84290918	1.000000	0.71417	0.992000	0.48379	0.579000	0.36224	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	GGT		0.512	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1		NM_153362		52	72	0	0	0	0.048971	0	52	72		
PNISR	25957	broad.mit.edu	37	6	99848724	99848724	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:99848724A>G	ENST00000369239.5	-	12	2314	c.2110T>C	c.(2110-2112)Ttc>Ctc	p.F704L	PNISR_ENST00000438806.1_Missense_Mutation_p.F704L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	704						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGACTACTGAACTTAAAATCt	0.308																																						uc003ppo.3		NaN																	0					0						c.(2110-2112)TTC>CTC		splicing factor, arginine/serine-rich 130							85.0	81.0	82.0					6																	99848724		2199	4298	6497	SO:0001583	missense	25957					nuclear speck		g.chr6:99848724A>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.2110T>C	6.37:g.99848724A>G	ENSP00000358242:p.Phe704Leu					SFRS18_uc003ppl.2_Missense_Mutation_p.F250L|SFRS18_uc003ppp.3_Missense_Mutation_p.F704L|SFRS18_uc011eag.1_Missense_Mutation_p.F704L	p.F704L	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	12	2338	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	704					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.2110T>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	6.033	0.374542	0.11409	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.72	4.49	0.54785	.	0.333611	0.32161	N	0.006494	T	0.07188	0.0182	N	0.08118	0	0.29091	N	0.8821	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	9	0.10902	T	0.67	.	8.0655	0.30659	0.6483:0.24:0.0:0.1117	.	704	Q8TF01	PNISR_HUMAN	L	704	.	ENSP00000358242:F704L	F	-	1	0	PNISR	99955445	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.492000	0.35594	2.183000	0.69458	0.448000	0.29417	TTC		0.308	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1		NM_032870		14	29	0	0	0	0.105934	0	14	29		
LAMA2	3908	broad.mit.edu	37	6	129794495	129794495	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:129794495G>C	ENST00000421865.2	+	52	7486	c.7437G>C	c.(7435-7437)ttG>ttC	p.L2479F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2479	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGAAACTTGAGGTAATTTA	0.333																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(7435-7437)TTG>TTC		laminin alpha 2 subunit isoform a precursor							58.0	59.0	58.0					6																	129794495		2203	4299	6502	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129794495G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7437G>C	6.37:g.129794495G>C	ENSP00000400365:p.Leu2479Phe					LAMA2_uc003qbo.2_Missense_Mutation_p.L2479F	p.L2479F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	51	7542	+			2479			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7437G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567347	0.65651	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75938	-0.98	5.91	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.127027	0.56097	D	0.000037	T	0.66470	0.2792	L	0.40543	1.245	0.50313	D	0.999861	D;D	0.59767	0.986;0.972	P;P	0.60236	0.871;0.783	T	0.69168	-0.5216	9	.	.	.	.	7.3733	0.26815	0.2785:0.0:0.7215:0.0	.	2480;2479	A6NF00;P24043	.;LAMA2_HUMAN	F	2479;2478;2479;497	ENSP00000400365:L2479F	.	L	+	3	2	LAMA2	129836188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.546000	0.36179	1.483000	0.48342	0.655000	0.94253	TTG		0.333	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				26	48	0	0	0	0.099896	0	26	48		
OLIG3	167826	broad.mit.edu	37	6	137815072	137815072	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:137815072T>A	ENST00000367734.2	-	1	459	c.236A>T	c.(235-237)cAg>cTg	p.Q79L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	79					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGTAGGTCCTGCTCCGACAG	0.597																																						uc003qhp.1		NaN																	0					0						c.(235-237)CAG>CTG		oligodendrocyte transcription factor 3							134.0	109.0	117.0					6																	137815072		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815072T>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.236A>T	6.37:g.137815072T>A	ENSP00000356708:p.Gln79Leu						p.Q79L	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	460	-	Breast(32;0.165)|Colorectal(23;0.24)		79			Potential.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.236A>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725621	0.48833	.	.	ENSG00000177468	ENST00000367734	T	0.70749	-0.51	5.44	5.44	0.79542	.	0.073656	0.56097	D	0.000038	T	0.48607	0.1509	N	0.19112	0.55	0.80722	D	1	P	0.35383	0.498	B	0.39660	0.306	T	0.56619	-0.7949	10	0.40728	T	0.16	-0.6934	15.4683	0.75419	0.0:0.0:0.0:1.0	.	79	Q7RTU3	OLIG3_HUMAN	L	79	ENSP00000356708:Q79L	ENSP00000356708:Q79L	Q	-	2	0	OLIG3	137856765	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.259000	0.72494	2.048000	0.60808	0.482000	0.46254	CAG		0.597	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1		NM_175747		63	120	0	0	0	0.048971	0	63	120		
TWISTNB	221830	broad.mit.edu	37	7	19738064	19738064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:19738064C>T	ENST00000222567.5	-	4	962	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	298	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CCACTGGAGTCACTGCCTTGG	0.423																																						uc003sup.1		NaN																	0				ovary(1)	1						c.(892-894)GAC>AAC		TWIST neighbor							166.0	185.0	178.0					7																	19738064		2203	4299	6502	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738064C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.892G>A	7.37:g.19738064C>T	ENSP00000222567:p.Asp298Asn						p.D298N	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			4	913	-			298			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.892G>A	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541342	0.96474	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.84	5.84	0.93424	.	0.041971	0.85682	D	0.000000	T	0.77445	0.4131	L	0.60455	1.87	0.54753	D	0.999986	D	0.89917	1.0	D	0.69654	0.965	T	0.77675	-0.2499	9	0.72032	D	0.01	-26.5025	20.1322	0.98003	0.0:1.0:0.0:0.0	.	298	Q3B726	RPA43_HUMAN	N	298	.	ENSP00000222567:D298N	D	-	1	0	TWISTNB	19704589	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.728000	0.74769	2.765000	0.95021	0.484000	0.47621	GAC		0.423	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1				208	207	0	0	0	0.048971	0	208	207		
DNAH11	8701	broad.mit.edu	37	7	21857887	21857887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:21857887G>A	ENST00000409508.3	+	65	10652	c.10621G>A	c.(10621-10623)Gaa>Aaa	p.E3541K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3548K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3548	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATCTTAATTGAAAATCTCGA	0.328									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10642-10644)GAA>AAA		dynein, axonemal, heavy chain 11							95.0	87.0	90.0					7																	21857887		1834	4080	5914	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21857887G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10621G>A	7.37:g.21857887G>A	ENSP00000475939:p.Glu3541Lys						p.E3548K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			66	10673	+			3548			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10642G>A		.	.	.	.	.	.	.	.	.	.	G	25.3	4.626418	0.87560	.	.	ENSG00000105877	ENST00000328843	T	0.31247	1.5	5.48	5.48	0.80851	.	0.046995	0.85682	D	0.000000	T	0.49949	0.1587	.	.	.	0.80722	D	1	P	0.41131	0.739	P	0.51487	0.671	T	0.49437	-0.8940	9	0.72032	D	0.01	.	19.4167	0.94704	0.0:0.0:1.0:0.0	.	3548	Q96DT5	DYH11_HUMAN	K	3548	ENSP00000330671:E3548K	ENSP00000330671:E3548K	E	+	1	0	DNAH11	21824412	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.252000	0.65445	2.586000	0.87340	0.644000	0.83932	GAA		0.328	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		38	22	0	0	0	0.104719	0	38	22		
AMPH	273	broad.mit.edu	37	7	38475976	38475976	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:38475976C>T	ENST00000356264.2	-	12	1245	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	AMPH_ENST00000428293.2_Missense_Mutation_p.E344K|AMPH_ENST00000325590.5_Missense_Mutation_p.E344K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	344					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCTTCACCTCAGGGACTTCA	0.428																																						uc003tgu.2		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(1030-1032)GAG>AAG		amphiphysin isoform 1							75.0	68.0	70.0					7																	38475976		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475976C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1030G>A	7.37:g.38475976C>T	ENSP00000348602:p.Glu344Lys					AMPH_uc003tgv.2_Missense_Mutation_p.E344K|AMPH_uc003tgt.2_Missense_Mutation_p.E97K	p.E344K	NM_001635	NP_001626	P49418	AMPH_HUMAN			12	1099	-			344					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1030G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036316	0.75617	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.35605	1.3;1.3;1.3	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000026	T	0.54224	0.1845	L	0.51422	1.61	0.49483	D	0.999795	D;D;D	0.89917	0.981;0.985;1.0	P;P;D	0.83275	0.81;0.724;0.996	T	0.37709	-0.9694	10	0.15066	T	0.55	-24.1467	19.4951	0.95069	0.0:1.0:0.0:0.0	.	344;344;100	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	K	344;344;344;114;347	ENSP00000317441:E344K;ENSP00000348602:E344K;ENSP00000390734:E344K	ENSP00000317441:E344K	E	-	1	0	AMPH	38442501	0.996000	0.38824	0.916000	0.36221	0.967000	0.64934	3.861000	0.56002	2.609000	0.88269	0.655000	0.94253	GAG		0.428	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635		32	33	0	0	0	0.050027	0	32	33		
GRB10	2887	broad.mit.edu	37	7	50663213	50663213	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:50663213C>A	ENST00000401949.1	-	18	2028	c.1559G>T	c.(1558-1560)cGt>cTt	p.R520L	GRB10_ENST00000335866.3_Missense_Mutation_p.R462L|GRB10_ENST00000398812.2_Missense_Mutation_p.R520L|GRB10_ENST00000357271.5_Missense_Mutation_p.R474L|GRB10_ENST00000403097.1_Missense_Mutation_p.R514L|GRB10_ENST00000407526.1_Missense_Mutation_p.R462L|GRB10_ENST00000402497.1_Missense_Mutation_p.R462L|GRB10_ENST00000439599.1_Missense_Mutation_p.R514L|GRB10_ENST00000398810.2_Missense_Mutation_p.R462L|GRB10_ENST00000402578.1_Missense_Mutation_p.R462L|GRB10_ENST00000406641.1_Missense_Mutation_p.R462L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	520	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.R520H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CTGGCTGTCACGGAGGAGAAA	0.383									Russell-Silver syndrome																													uc003tpi.2		NaN																	1	Substitution - Missense(1)	p.R520H(1)	ovary(1)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1558-1560)CGT>CTT		growth factor receptor-bound protein 10 isoform							168.0	168.0	168.0					7																	50663213		1818	4087	5905	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50663213C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1559G>T	7.37:g.50663213C>A	ENSP00000385770:p.Arg520Leu					GRB10_uc003tph.3_Missense_Mutation_p.R462L|GRB10_uc003tpj.2_Missense_Mutation_p.R474L|GRB10_uc003tpk.2_Missense_Mutation_p.R520L|GRB10_uc010kzb.2_Missense_Mutation_p.R462L|GRB10_uc003tpl.2_Missense_Mutation_p.R514L|GRB10_uc003tpm.2_Missense_Mutation_p.R462L|GRB10_uc003tpn.2_Missense_Mutation_p.R462L	p.R520L	NM_005311	NP_005302	Q13322	GRB10_HUMAN			15	1590	-	Glioma(55;0.08)|all_neural(89;0.245)		520	R->K: No effect on NEDD4-binding. No effect on the disruption of the interaction between INSR and IRS1 and IRS2.		SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1559G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321625	0.95682	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	5.78	5.78	0.91487	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99249	4.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.97008	0.9734	10	0.87932	D	0	-12.585	20.0086	0.97443	0.0:1.0:0.0:0.0	.	514;474;520	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	520;514;462;462;462;514;462;474;462;520;52;462	ENSP00000381793:R520L;ENSP00000406716:R514L;ENSP00000338543:R462L;ENSP00000381790:R462L;ENSP00000385189:R462L;ENSP00000385544:R514L;ENSP00000385366:R462L;ENSP00000349818:R474L;ENSP00000385046:R462L;ENSP00000385770:R520L;ENSP00000385748:R462L	ENSP00000338543:R462L	R	-	2	0	GRB10	50630707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CGT		0.383	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1				137	152	1	0	6.95862e-65	0.048971	7.71972e-65	137	152		
MUC17	140453	broad.mit.edu	37	7	100681563	100681563	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100681563C>T	ENST00000306151.4	+	3	6930	c.6866C>T	c.(6865-6867)aCg>aTg	p.T2289M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2289	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2289M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.478																																						uc003uxp.1		NaN																	1	Substitution - Missense(1)		central_nervous_system(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6865-6867)ACG>ATG		mucin 17 precursor							223.0	228.0	226.0					7																	100681563		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681563C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6866C>T	7.37:g.100681563C>T	ENSP00000302716:p.Thr2289Met					MUC17_uc010lho.1_RNA	p.T2289M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6919	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2289			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6866C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065756	0.07273	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	1.19	1.19	0.21007	.	.	.	.	.	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.44982	-0.9292	9	0.34782	T	0.22	.	7.9733	0.30140	0.0:1.0:0.0:0.0	.	2289	Q685J3	MUC17_HUMAN	M	2289	ENSP00000302716:T2289M	ENSP00000302716:T2289M	T	+	2	0	MUC17	100468283	0.049000	0.20398	0.004000	0.12327	0.004000	0.04260	0.069000	0.14552	0.644000	0.30656	0.134000	0.15878	ACG		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		292	342	0	0	0	0.048971	0	292	342		
RELN	5649	broad.mit.edu	37	7	103368593	103368593	+	Missense_Mutation	SNP	C	C	T	rs375141725		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:103368593C>T	ENST00000428762.1	-	7	877	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	RELN_ENST00000343529.5_Missense_Mutation_p.V240I|RELN_ENST00000424685.2_Missense_Mutation_p.V240I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	240					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAAGGTGACGGCATTGCCA	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(718-720)GTC>ATC		reelin isoform a		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	149.0	120.0	130.0		718,718	5.5	1.0	7		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	240/3461,240/3459	103368593	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368593C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.718G>A	7.37:g.103368593C>T	ENSP00000392423:p.Val240Ile					RELN_uc010liz.2_Missense_Mutation_p.V240I	p.V240I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	878	-			240					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.718G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855118	0.51376	0.0	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24908	1.83;1.83;1.83	5.52	5.52	0.82312	.	0.143984	0.46758	D	0.000271	T	0.21145	0.0509	L	0.38531	1.155	0.37933	D	0.93207	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.06643	-1.0815	10	0.23302	T	0.38	.	14.0691	0.64849	0.0:0.9253:0.0:0.0747	.	240;240	P78509-2;P78509	.;RELN_HUMAN	I	240	ENSP00000392423:V240I;ENSP00000345694:V240I;ENSP00000388446:V240I	ENSP00000345694:V240I	V	-	1	0	RELN	103155829	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	3.208000	0.51114	2.757000	0.94681	0.561000	0.74099	GTC		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		50	59	0	0	0	0.048971	0	50	59		
OR2F1	26211	broad.mit.edu	37	7	143657782	143657782	+	Missense_Mutation	SNP	C	C	A	rs73464588	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:143657782C>A	ENST00000392899.1	+	1	756	c.719C>A	c.(718-720)aCg>aAg	p.T240K	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	240					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(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTTTCCACACGTGTGCCTCT	0.507																																						uc003wds.1		NaN																	0				skin(2)|ovary(1)	3						c.(718-720)ACG>AAG		olfactory receptor, family 2, subfamily F,							174.0	147.0	156.0					7																	143657782		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657782C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.719C>A	7.37:g.143657782C>A	ENSP00000376633:p.Thr240Lys						p.T240K	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	763	+	Melanoma(164;0.0903)		240			Helical; Name=6; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.719C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997892	0.74818	.	.	ENSG00000213215	ENST00000392899	T	0.35605	1.3	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.73575	0.3604	H	0.98133	4.155	0.58432	D	0.999995	D	0.61697	0.99	D	0.64410	0.925	D	0.83429	0.0037	10	0.87932	D	0	-41.7724	17.0114	0.86407	0.0:1.0:0.0:0.0	.	240	Q13607	OR2F1_HUMAN	K	240	ENSP00000376633:T240K	ENSP00000376633:T240K	T	+	2	0	OR2F1	143288715	0.998000	0.40836	0.159000	0.22649	0.601000	0.36947	3.703000	0.54808	2.871000	0.98454	0.655000	0.94253	ACG		0.507	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1				80	90	1	0	8.70839e-23	0.048971	9.41567e-23	80	90		
ZNF862	643641	broad.mit.edu	37	7	149558887	149558887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:149558887G>A	ENST00000223210.4	+	7	2883	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	880					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CGTGGCACTGGAGAGCCTCCG	0.602																																						uc010lpn.2		NaN																	0				skin(1)	1						c.(2638-2640)GAG>AAG		zinc finger protein 862							31.0	35.0	33.0					7																	149558887		2103	4209	6312	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558887G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2638G>A	7.37:g.149558887G>A	ENSP00000223210:p.Glu880Lys					ZNF862_uc003wgm.2_RNA	p.E880K	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	2830	+			880					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2638G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995097	0.54041	.	.	ENSG00000106479	ENST00000223210	T	0.01119	5.31	5.38	4.5	0.54988	.	0.229631	0.30311	N	0.009908	T	0.01254	0.0041	L	0.32530	0.975	0.31283	N	0.690313	B	0.21225	0.053	B	0.17722	0.019	T	0.18903	-1.0322	10	0.36615	T	0.2	-29.8237	10.2273	0.43233	0.0909:0.0:0.9091:0.0	.	880	O60290	ZN862_HUMAN	K	880	ENSP00000223210:E880K	ENSP00000223210:E880K	E	+	1	0	ZNF862	149189820	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	4.334000	0.59291	1.282000	0.44496	-0.157000	0.13467	GAG		0.602	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1		NM_001099220		39	37	0	0	0	0.069456	0	39	37		
DPP6	1804	broad.mit.edu	37	7	154564587	154564587	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:154564587C>T	ENST00000377770.3	+	10	1212	c.1071C>T	c.(1069-1071)caC>caT	p.H357H	DPP6_ENST00000427557.1_Silent_p.H250H|DPP6_ENST00000404039.1_Silent_p.H293H|DPP6_ENST00000332007.3_Silent_p.H295H			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	357					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)			TTTCCCTACACGTTATTGGCT	0.453																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	0				pancreas(3)|breast(1)	4						c.(1069-1071)CAC>CAT		dipeptidyl-peptidase 6 isoform 1							98.0	92.0	94.0					7																	154564587		1932	4151	6083	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154564587C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1071C>T	7.37:g.154564587C>T						DPP6_uc003wli.2_Silent_p.H293H|DPP6_uc003wlm.2_Silent_p.H295H|DPP6_uc011kvq.1_Silent_p.H250H	p.H357H	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		10	1200	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	357			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.1071C>T																																																																																					0.453	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797		17	13	0	0	0	0.038395	0	17	13		
MYOM2	9172	broad.mit.edu	37	8	2044236	2044236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:2044236G>A	ENST00000262113.4	+	18	2416	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E184K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	759	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAACTGGCACGAGGTCAATTC	0.493																																						uc003wpx.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2275-2277)GAG>AAG		myomesin 2							99.0	87.0	91.0					8																	2044236		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2044236G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2275G>A	8.37:g.2044236G>A	ENSP00000262113:p.Glu759Lys					MYOM2_uc011kwi.1_Missense_Mutation_p.E184K	p.E759K	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2413	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	759			Fibronectin type-III 4.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2275G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163736	0.78226	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.59906	0.23;0.23	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051595	0.85682	D	0.000000	T	0.69151	0.3079	L	0.38838	1.175	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.67373	-0.5687	10	0.40728	T	0.16	.	19.3026	0.94149	0.0:0.0:1.0:0.0	.	759	P54296	MYOM2_HUMAN	K	759;184	ENSP00000262113:E759K;ENSP00000428396:E184K	ENSP00000262113:E759K	E	+	1	0	MYOM2	2031643	1.000000	0.71417	0.995000	0.50966	0.113000	0.19764	8.859000	0.92264	2.556000	0.86216	0.555000	0.69702	GAG		0.493	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970		23	49	0	0	0	0.069288	0	23	49		
DOCK5	80005	broad.mit.edu	37	8	25267711	25267711	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:25267711C>G	ENST00000276440.7	+	51	5545	c.5501C>G	c.(5500-5502)tCc>tGc	p.S1834C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1834	Pro-rich.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGAGGAACTCCACTGAGGTA	0.592																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NaN																	0				ovary(3)	3						c.(5500-5502)TCC>TGC		dedicator of cytokinesis 5							80.0	63.0	69.0					8																	25267711		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25267711C>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5501C>G	8.37:g.25267711C>G	ENSP00000276440:p.Ser1834Cys					PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	p.S1834C	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	51	5638	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1834			Pro-rich.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.5501C>G	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007650	0.54361	.	.	ENSG00000147459	ENST00000276440	T	0.04551	3.6	5.14	5.14	0.70334	.	1.071810	0.07188	N	0.855231	T	0.17280	0.0415	L	0.36672	1.1	0.45295	D	0.998293	D	0.69078	0.997	D	0.70935	0.971	T	0.01956	-1.1240	10	0.66056	D	0.02	.	17.1441	0.86762	0.0:1.0:0.0:0.0	.	1834	Q9H7D0	DOCK5_HUMAN	C	1834	ENSP00000276440:S1834C	ENSP00000276440:S1834C	S	+	2	0	DOCK5	25323628	0.997000	0.39634	0.892000	0.35008	0.364000	0.29643	4.507000	0.60434	2.551000	0.86045	0.655000	0.94253	TCC		0.592	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2		NM_024940		15	29	0	0	0	0.024245	0	15	29		
RB1CC1	9821	broad.mit.edu	37	8	53568651	53568651	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:53568651T>C	ENST00000025008.5	-	15	4261	c.3738A>G	c.(3736-3738)ctA>ctG	p.L1246L	RB1CC1_ENST00000539297.1_Silent_p.L1246L|RB1CC1_ENST00000435644.2_Silent_p.L1246L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1246					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAAATTCTTTTAGGGCAGTCT	0.328																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NaN																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(3736-3738)CTA>CTG		Rb1-inducible coiled coil protein 1 isoform 1							100.0	102.0	102.0					8																	53568651		2202	4298	6500	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53568651T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3738A>G	8.37:g.53568651T>C						RB1CC1_uc003xrf.3_Silent_p.L1246L	p.L1246L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	4296	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1246			Potential.		Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.3738A>G	CCDS34892.1																																																																																				0.328	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781		30	46	0	0	0	0.041601	0	30	46		
C8orf44	56260	broad.mit.edu	37	8	67590131	67590131	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:67590131A>G	ENST00000519561.1	+	2	339	c.188A>G	c.(187-189)aAa>aGa	p.K63R	C8orf44_ENST00000521889.1_Missense_Mutation_p.K63R|C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000390159.3_Missense_Mutation_p.K63R	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	63						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggagttcgaaaccagcctgg	0.532																																						uc003xwo.1		NaN																	0					0						c.(187-189)AAA>AGA		hypothetical protein LOC56260																																				SO:0001583	missense	56260							g.chr8:67590131A>G	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.188A>G	8.37:g.67590131A>G	ENSP00000428002:p.Lys63Arg					SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.K63R	p.K63R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)		2	341	+	Breast(64;0.186)		63					Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	c.188A>G	CCDS6193.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.048290	0.00398	.	.	ENSG00000213865	ENST00000519561;ENST00000521889;ENST00000390159	T;T	0.28454	1.61;1.61	0.502	0.502	0.16932	.	.	.	.	.	T	0.06735	0.0172	N	0.00380	-1.58	0.09310	N	1	P	0.50710	0.938	B	0.43680	0.427	T	0.10042	-1.0647	8	0.02654	T	1	.	.	.	.	.	63	Q96CB5	CH044_HUMAN	R	63	ENSP00000428002:K63R;ENSP00000375087:K63R	ENSP00000375087:K63R	K	+	2	0	C8orf44	67752685	0.006000	0.16342	0.002000	0.10522	0.008000	0.06430	0.709000	0.25734	0.437000	0.26423	0.260000	0.18958	AAA		0.532	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2		NM_019607		5	29	0	0	0	0.02938	0	5	29		
SLCO5A1	81796	broad.mit.edu	37	8	70588853	70588853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:70588853G>A	ENST00000260126.4	-	9	2786	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	SLCO5A1_ENST00000530307.1_Nonsense_Mutation_p.R639*|SLCO5A1_ENST00000524945.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	694						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R694R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAAGTGTTCGCAACAAAACA	0.418																																						uc003xyl.2		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2080-2082)CGA>TGA		solute carrier organic anion transporter family,							152.0	129.0	137.0					8																	70588853		2203	4300	6503	SO:0001587	stop_gained	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70588853G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2080C>T	8.37:g.70588853G>A	ENSP00000260126:p.Arg694*					SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.R639*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	p.R694*	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		9	2787	-	Breast(64;0.0654)		694			Helical; Name=11; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Nonsense_Mutation	SNP	ENST00000260126.4	37	c.2080C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	38	7.003887	0.97994	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	.	.	.	6.17	2.11	0.27256	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1111	0.89536	0.0:0.0:0.3809:0.6191	.	.	.	.	X	694;639	.	ENSP00000260126:R694X	R	-	1	2	SLCO5A1	70751407	1.000000	0.71417	0.837000	0.33122	0.997000	0.91878	1.022000	0.30052	0.086000	0.17137	0.655000	0.94253	CGA		0.418	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		20	48	0	0	0	0.043863	0	20	48		
PDP1	54704	broad.mit.edu	37	8	94934630	94934630	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:94934630A>G	ENST00000297598.4	+	2	612	c.343A>G	c.(343-345)Aat>Gat	p.N115D	PDP1_ENST00000517764.1_Missense_Mutation_p.N115D|PDP1_ENST00000520728.1_Missense_Mutation_p.N115D|PDP1_ENST00000396200.3_Missense_Mutation_p.N140D	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	115				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480). {ECO:0000305}.	cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ATTTGACAGCAATCAGCTGCC	0.468																																						uc003yge.2		NaN																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(343-345)AAT>GAT		pyruvate dehyrogenase phosphatase catalytic							89.0	92.0	91.0					8																	94934630		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934630A>G	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.343A>G	8.37:g.94934630A>G	ENSP00000297598:p.Asn115Asp					PDP1_uc003ygf.2_Missense_Mutation_p.N140D|PDP1_uc010max.2_Missense_Mutation_p.N140D|PDP1_uc011lgm.1_Missense_Mutation_p.N115D|PDP1_uc011lgn.1_Missense_Mutation_p.N174D	p.N115D	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	612	+			115	NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480).				B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.343A>G	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842846	0.71488	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.52526	0.68;0.68;0.66;0.68	6.03	6.03	0.97812	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73011	-0.4117	10	0.49607	T	0.09	-21.6394	16.5724	0.84622	1.0:0.0:0.0:0.0	.	166;115	B4DYX8;Q9P0J1	.;PDP1_HUMAN	D	115;115;140;115;115;115;115	ENSP00000297598:N115D;ENSP00000428317:N115D;ENSP00000379503:N140D;ENSP00000430380:N115D	ENSP00000297598:N115D	N	+	1	0	PDP1	95003806	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	2.313000	0.78055	0.455000	0.32223	AAT		0.468	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2		NM_018444		41	117	0	0	0	0.104719	0	41	117		
COL22A1	169044	broad.mit.edu	37	8	139609214	139609214	+	Splice_Site	SNP	C	C	T	rs370254305		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:139609214C>T	ENST00000303045.6	-	62	4812		c.e62-1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		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)			GAGACTCCCCCTAGGAGGGAG	0.507										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	1	Unknown(1)		upper_aerodigestive_tract(1)	ovary(11)|pancreas(1)|skin(1)	13						c.e62-1		collagen, type XXII, alpha 1		C		0,4406		0,0,2203	117.0	119.0	118.0			4.9	1.0	8		118	1,8599	1.2+/-3.3	0,1,4299	no	splice-3	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			139609214	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139609214C>T	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.4366-1G>A	8.37:g.139609214C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.G736_splice	p.G1456_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4813	-	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)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.4366_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355127	0.82243	0.0	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1252	0.86712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139678396	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.591000	0.74090	2.285000	0.76669	0.467000	0.42956	.		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257	Intron	44	84	0	0	0	0.11126	0	44	84		
ZNF510	22869	broad.mit.edu	37	9	99522006	99522006	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:99522006C>T	ENST00000375231.1	-	6	1756	c.1106G>A	c.(1105-1107)aGa>aAa	p.R369K	ZNF510_ENST00000223428.4_Missense_Mutation_p.R369K			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGTCTGTGTTCTGTCATTACT	0.388																																						uc004awn.1		NaN																	0					0						c.(1105-1107)AGA>AAA		zinc finger protein 510							150.0	142.0	144.0					9																	99522006		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99522006C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1106G>A	9.37:g.99522006C>T	ENSP00000364379:p.Arg369Lys					ZNF510_uc004awo.1_Missense_Mutation_p.R369K	p.R369K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1295	-		Acute lymphoblastic leukemia(62;0.0527)	369					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1106G>A	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	1.707	-0.500094	0.04291	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.05649	3.41;3.41	3.45	-0.701	0.11269	.	.	.	.	.	T	0.03095	0.0091	N	0.21373	0.66	0.20703	N	0.999864	B	0.14012	0.009	B	0.09377	0.004	T	0.46884	-0.9159	9	0.02654	T	1	.	4.6748	0.12706	0.0:0.5395:0.161:0.2995	.	369	Q9Y2H8	ZN510_HUMAN	K	369	ENSP00000364379:R369K;ENSP00000223428:R369K	ENSP00000223428:R369K	R	-	2	0	ZNF510	98561827	0.930000	0.31532	0.072000	0.20136	0.098000	0.18820	0.038000	0.13862	-0.278000	0.09180	-0.305000	0.09177	AGA		0.388	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1		NM_014930		56	41	0	0	0	0.048971	0	56	41		
HSDL2	84263	broad.mit.edu	37	9	115171290	115171290	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115171290C>T	ENST00000398805.3	+	4	611	c.384C>T	c.(382-384)ggC>ggT	p.G128G	HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_Silent_p.G8G|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	128						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ACACCAGAGGCACCTACCTTG	0.418																																						uc004bga.1		NaN																	0					0						c.(382-384)GGC>GGT		hydroxysteroid dehydrogenase like 2							138.0	125.0	129.0					9																	115171290		1941	4149	6090	SO:0001819	synonymous_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115171290C>T	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.384C>T	9.37:g.115171290C>T						HSDL2_uc011lwv.1_Silent_p.G7G|HSDL2_uc004bgb.1_Intron|HSDL2_uc004bgc.1_Intron|HSDL2_uc011lww.1_5'UTR	p.G128G	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			4	477	+			128					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Silent	SNP	ENST00000398805.3	37	c.384C>T	CCDS43864.1																																																																																				0.418	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1		NM_032303		28	59	0	0	0	0.050027	0	28	59		
ZFP37	7539	broad.mit.edu	37	9	115805288	115805288	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805288C>G	ENST00000374227.3	-	4	1637	c.1610G>C	c.(1609-1611)aGa>aCa	p.R537T	ZFP37_ENST00000555206.1_Missense_Mutation_p.R538T|ZFP37_ENST00000553380.1_Missense_Mutation_p.R552T	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTATGAACTCTCTGATGTTG	0.403																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(1609-1611)AGA>ACA		zinc finger protein 37 homolog							75.0	71.0	72.0					9																	115805288		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805288C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1610G>C	9.37:g.115805288C>G	ENSP00000363344:p.Arg537Thr					ZFP37_uc011lwz.1_Missense_Mutation_p.R552T|ZFP37_uc011lxa.1_Missense_Mutation_p.R538T	p.R537T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1638	-			537			C2H2-type 9.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1610G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564347	0.45694	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.02421	4.3;4.3;4.3	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000184	T	0.10551	0.0258	L	0.45698	1.435	0.28312	N	0.922641	D;D;D	0.89917	1.0;1.0;0.988	D;D;D	0.77557	0.99;0.99;0.923	T	0.00433	-1.1742	10	0.62326	D	0.03	-24.4381	15.373	0.74581	0.0:1.0:0.0:0.0	.	538;552;537	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	T	537;538;552	ENSP00000363344:R537T;ENSP00000451310:R538T;ENSP00000452552:R552T	ENSP00000363344:R537T	R	-	2	0	ZFP37	114845109	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.017000	0.12590	2.752000	0.94435	0.655000	0.94253	AGA		0.403	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		30	47	0	0	0	0.041601	0	30	47		
ZFP37	7539	broad.mit.edu	37	9	115805738	115805738	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805738C>G	ENST00000374227.3	-	4	1187	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T	ZFP37_ENST00000555206.1_Missense_Mutation_p.R388T|ZFP37_ENST00000553380.1_Missense_Mutation_p.R402T	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGAGCTGTGTCTGAAGGTTTT	0.413																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(1159-1161)AGA>ACA		zinc finger protein 37 homolog							117.0	117.0	117.0					9																	115805738		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805738C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1160G>C	9.37:g.115805738C>G	ENSP00000363344:p.Arg387Thr					ZFP37_uc011lwz.1_Missense_Mutation_p.R402T|ZFP37_uc011lxa.1_Missense_Mutation_p.R388T	p.R387T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1188	-			387			C2H2-type 4.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1160G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592987	0.13875	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07021	3.23;3.23;3.23	4.43	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144445	0.32518	N	0.005987	T	0.05777	0.0151	N	0.25245	0.725	0.25225	N	0.98987	B;B;B	0.30146	0.008;0.008;0.27	B;B;B	0.34346	0.003;0.003;0.18	T	0.40590	-0.9555	10	0.20046	T	0.44	-16.9127	8.1434	0.31097	0.1595:0.4717:0.3688:0.0	.	388;402;387	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	T	387;388;402	ENSP00000363344:R387T;ENSP00000451310:R388T;ENSP00000452552:R402T	ENSP00000363344:R387T	R	-	2	0	ZFP37	114845559	0.000000	0.05858	0.998000	0.56505	0.996000	0.88848	-1.310000	0.02725	0.747000	0.32809	0.655000	0.94253	AGA		0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		41	82	0	0	0	0.092188	0	41	82		
ZFP37	7539	broad.mit.edu	37	9	115806346	115806346	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806346C>T	ENST00000374227.3	-	4	579	c.552G>A	c.(550-552)ttG>ttA	p.L184L	ZFP37_ENST00000555206.1_Silent_p.L185L|ZFP37_ENST00000553380.1_Silent_p.L199L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTCTGTTTCAAAATTTTTC	0.333																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(550-552)TTG>TTA		zinc finger protein 37 homolog							91.0	95.0	94.0					9																	115806346		2203	4298	6501	SO:0001819	synonymous_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806346C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.552G>A	9.37:g.115806346C>T						ZFP37_uc011lwz.1_Silent_p.L199L|ZFP37_uc011lxa.1_Silent_p.L185L	p.L184L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	580	-			184					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	c.552G>A	CCDS6787.1																																																																																				0.333	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		39	63	0	0	0	0.069456	0	39	63		
ZFP37	7539	broad.mit.edu	37	9	115806541	115806541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806541C>G	ENST00000374227.3	-	4	384	c.357G>C	c.(355-357)caG>caC	p.Q119H	ZFP37_ENST00000555206.1_Missense_Mutation_p.Q120H|ZFP37_ENST00000553380.1_Missense_Mutation_p.Q134H	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATCATCTTTCTGGACTTCTA	0.353																																						uc004bgm.1		NaN																	0				ovary(1)|skin(1)	2						c.(355-357)CAG>CAC		zinc finger protein 37 homolog							61.0	69.0	66.0					9																	115806541		2077	3880	5957	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806541C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.357G>C	9.37:g.115806541C>G	ENSP00000363344:p.Gln119His					ZFP37_uc011lwz.1_Missense_Mutation_p.Q134H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q120H	p.Q119H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	385	-			119					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.357G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285719	0.01387	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05925	3.41;3.37;3.44	4.43	-2.73	0.05950	.	0.721126	0.12027	N	0.506372	T	0.03871	0.0109	L	0.42245	1.32	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.003;0.003;0.002	T	0.46992	-0.9151	10	0.14656	T	0.56	-1.576	0.4791	0.00544	0.391:0.1961:0.1286:0.2844	.	120;134;119	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	H	119;120;134	ENSP00000363344:Q119H;ENSP00000451310:Q120H;ENSP00000452552:Q134H	ENSP00000363344:Q119H	Q	-	3	2	ZFP37	114846362	0.000000	0.05858	0.055000	0.19348	0.570000	0.35934	-0.359000	0.07632	-0.516000	0.06470	-0.136000	0.14681	CAG		0.353	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		26	54	0	0	0	0.0918	0	26	54		
LRSAM1	90678	broad.mit.edu	37	9	130217858	130217858	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:130217858C>G	ENST00000323301.4	+	4	737	c.133C>G	c.(133-135)Cca>Gca	p.P45A	LRSAM1_ENST00000300417.6_Missense_Mutation_p.P45A|LRSAM1_ENST00000373322.1_Missense_Mutation_p.P45A|LRSAM1_ENST00000373324.4_Missense_Mutation_p.P45A	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	45					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						ATCTTAGATTCCATTTGGAGC	0.438																																						uc004brb.1		NaN																	0					0						c.(133-135)CCA>GCA		leucine rich repeat and sterile alpha motif							146.0	144.0	145.0					9																	130217858		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130217858C>G	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.133C>G	9.37:g.130217858C>G	ENSP00000322937:p.Pro45Ala					LRSAM1_uc010mxk.1_Missense_Mutation_p.P45A|LRSAM1_uc004brc.1_Missense_Mutation_p.P45A|LRSAM1_uc004brd.1_Missense_Mutation_p.P45A	p.P45A	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			5	478	+			45			LRR 1.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.133C>G	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326291	0.81580	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.72590	-0.4247	10	0.72032	D	0.01	-9.7048	15.1631	0.72801	0.0:1.0:0.0:0.0	.	45;45	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	A	45	ENSP00000300417:P45A;ENSP00000362421:P45A;ENSP00000322937:P45A;ENSP00000362419:P45A	ENSP00000300417:P45A	P	+	1	0	LRSAM1	129257679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.732000	0.68563	2.648000	0.89879	0.655000	0.94253	CCA		0.438	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1		NM_138361		29	60	0	0	0	0.030593	0	29	60		
FAM78A	286336	broad.mit.edu	37	9	134136337	134136337	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:134136337T>G	ENST00000372271.3	-	2	1091	c.724A>C	c.(724-726)Atc>Ctc	p.I242L	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.I239L	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	242										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TTGCTCAGGATTTTGGGCTGG	0.682																																						uc004cak.2		NaN																	0				ovary(1)	1						c.(724-726)ATC>CTC		hypothetical protein LOC286336							81.0	85.0	84.0					9																	134136337		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136337T>G	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.724A>C	9.37:g.134136337T>G	ENSP00000361345:p.Ile242Leu					FAM78A_uc004caj.2_Missense_Mutation_p.I239L	p.I242L	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1064	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	242					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.724A>C	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675913	0.47886	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94046	-3.34;-3.34;-3.34	4.75	4.75	0.60458	.	0.094886	0.64402	D	0.000001	D	0.89842	0.6832	L	0.58101	1.795	0.48696	D	0.999698	B;P	0.42692	0.115;0.787	B;B	0.40199	0.031;0.322	D	0.88047	0.2785	10	0.44086	T	0.13	-36.8603	5.9869	0.19440	0.0:0.1928:0.0:0.8072	.	242;239	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	L	239;242;211	ENSP00000361343:I239L;ENSP00000361345:I242L;ENSP00000419959:I211L	ENSP00000361343:I239L	I	-	1	0	FAM78A	133126158	1.000000	0.71417	0.990000	0.47175	0.926000	0.56050	2.523000	0.45580	1.894000	0.54839	0.379000	0.24179	ATC		0.682	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1		NM_033387		58	111	0	0	0	0.048971	0	58	111		
GTF3C4	9329	broad.mit.edu	37	9	135555086	135555086	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:135555086G>A	ENST00000372146.4	+	2	2644	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	694					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGTCTTAGGAGAAGTGTATCT	0.478																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2080-2082)GAA>AAA		general transcription factor IIIC 4							122.0	112.0	116.0					9																	135555086		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135555086G>A	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.2080G>A	9.37:g.135555086G>A	ENSP00000361219:p.Glu694Lys					GTF3C4_uc010mzw.2_RNA	p.E694K	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	2338	+			694					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.2080G>A	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451507	0.84209	.	.	ENSG00000125484	ENST00000372146	T	0.49139	0.79	5.88	5.88	0.94601	.	0.105199	0.64402	D	0.000008	T	0.44519	0.1297	N	0.24115	0.695	0.54753	D	0.999989	P	0.52842	0.956	P	0.47528	0.549	T	0.33727	-0.9857	10	0.45353	T	0.12	-27.4082	18.8009	0.92016	0.0:0.0:1.0:0.0	.	694	Q9UKN8	TF3C4_HUMAN	K	694	ENSP00000361219:E694K	ENSP00000361219:E694K	E	+	1	0	GTF3C4	134544907	1.000000	0.71417	0.938000	0.37757	0.932000	0.56968	9.238000	0.95380	2.789000	0.95967	0.655000	0.94253	GAA		0.478	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1				30	53	0	0	0	0.030593	0	30	53		
FAM9B	171483	broad.mit.edu	37	X	8997436	8997436	+	Missense_Mutation	SNP	G	G	A	rs12839241		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:8997436G>A	ENST00000327220.5	-	6	669	c.305C>T	c.(304-306)tCt>tTt	p.S102F	FAM9B_ENST00000428477.1_Missense_Mutation_p.S102F|FAM9B_ENST00000362066.3_Missense_Mutation_p.S142F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	102						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CAACTTCAGAGAATGTATATA	0.368																																						uc011mhu.1		NaN																	0					0						c.(304-306)TCT>TTT		family with sequence similarity 9, member B							192.0	148.0	163.0					X																	8997436		2203	4300	6503	SO:0001583	missense	171483					nucleus		g.chrX:8997436G>A		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.305C>T	X.37:g.8997436G>A	ENSP00000318716:p.Ser102Phe					FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.S142F	p.S102F	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN			5	394	-		Hepatocellular(5;0.219)	102					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.305C>T	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170981	0.21621	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	0.43	0.16515	.	.	.	.	.	T	0.56077	0.1961	M	0.67397	2.05	0.09310	N	1	D;D	0.60160	0.987;0.987	D;D	0.67382	0.951;0.951	T	0.42649	-0.9439	7	0.87932	D	0	.	.	.	.	rs12839241;rs12839241	102;142	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	F	142;102;102	.	ENSP00000318716:S102F	S	-	2	0	FAM9B	8957436	0.010000	0.17322	0.012000	0.15200	0.012000	0.07955	0.575000	0.23729	0.434000	0.26340	0.436000	0.28706	TCT		0.368	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2		NM_205849		12	36	0	0	0	0.09319	0	12	36		
TSPAN6	7105	broad.mit.edu	37	X	99888429	99888429	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:99888429C>T	ENST00000373020.4	-	5	669	c.558G>A	c.(556-558)caG>caA	p.Q186Q	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	186					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CTGCATCTCTCTGTGGAGTAC	0.338																																						uc004ega.1		NaN																	0				ovary(1)	1						c.(556-558)CAG>CAA		transmembrane 4 superfamily member 6							79.0	74.0	75.0					X																	99888429		2203	4300	6503	SO:0001819	synonymous_variant	7105				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chrX:99888429C>T	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.558G>A	X.37:g.99888429C>T						TSPAN6_uc010nna.1_Silent_p.Q92Q	p.Q186Q	NM_003270	NP_003261	O43657	TSN6_HUMAN			5	661	-			186			Extracellular (Potential).		Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	c.558G>A	CCDS14470.1																																																																																				0.338	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1				29	19	0	0	0	0.037714	0	29	19		
LAMP2	3920	broad.mit.edu	37	X	119589270	119589270	+	Silent	SNP	G	G	A	rs147369153	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:119589270G>A	ENST00000200639.4	-	3	475	c.339C>T	c.(337-339)agC>agT	p.S113S	LAMP2_ENST00000371335.4_Silent_p.S113S|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Silent_p.S113S|LAMP2_ENST00000540603.1_Silent_p.S66S			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	113	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AAAATGAGACGCTGTCAATTG	0.403																																						uc004est.3		NaN																	0				ovary(1)	1						c.(337-339)AGC>AGT		lysosomal-associated membrane protein 2 isoform		G	,,	0,3835		0,0,0,1632,571	158.0	136.0	144.0		339,339,339	-1.8	0.0	X	dbSNP_134	144	7,6721		0,4,3,2424,1869	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMP2	NM_001122606.1,NM_002294.2,NM_013995.2	,,	0,4,3,4056,2440	AA,AG,A,GG,G		0.104,0.0,0.0663	,,	113/412,113/411,113/411	119589270	7,10556	2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119589270G>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.339C>T	X.37:g.119589270G>A						LAMP2_uc004ess.3_Silent_p.S113S|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Silent_p.S66S|LAMP2_uc010nqp.1_Silent_p.S113S	p.S113S	NM_002294	NP_002285	P13473	LAMP2_HUMAN			3	519	-			113			Lumenal (Potential).|First lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.339C>T	CCDS14599.1																																																																																				0.403	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1				35	24	0	0	0	0.064281	0	35	24		
MAGEC1	9947	broad.mit.edu	37	X	140993238	140993238	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140993238G>C	ENST00000285879.4	+	4	334	c.48G>C	c.(46-48)caG>caC	p.Q16H	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	16										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)					GTCTTCTCCAGAGTTCCTCTG	0.552										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(46-48)CAG>CAC		melanoma antigen family C, 1							64.0	62.0	63.0					X																	140993238		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993238G>C	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.48G>C	X.37:g.140993238G>C	ENSP00000285879:p.Gln16His	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.Q16H	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	334	+	Acute lymphoblastic leukemia(192;6.56e-05)		16					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.48G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	6.229	0.410391	0.11812	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.15603	4.19;2.41	0.458	0.458	0.16670	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	0.999999	P	0.51240	0.943	P	0.55667	0.781	T	0.20338	-1.0278	8	0.87932	D	0	.	.	.	.	.	16	O60732	MAGC1_HUMAN	H	16;16;15	ENSP00000285879:Q16H;ENSP00000359542:Q16H	ENSP00000285879:Q16H	Q	+	3	2	MAGEC1	140820904	0.014000	0.17966	0.004000	0.12327	0.007000	0.05969	1.918000	0.40006	0.447000	0.26695	0.179000	0.17066	CAG		0.552	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		45	48	0	0	0	0.039052	0	45	48		
MAGEC1	9947	broad.mit.edu	37	X	140995384	140995384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140995384C>T	ENST00000285879.4	+	4	2480	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	732										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)					GTTTCCTCCTCAGGGGGAGGA	0.542										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2194-2196)CAG>TAG		melanoma antigen family C, 1							111.0	120.0	117.0					X																	140995384		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140995384C>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.2194C>T	X.37:g.140995384C>T	ENSP00000285879:p.Gln732*	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q732*	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2480	+	Acute lymphoblastic leukemia(192;6.56e-05)		732					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.2194C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	34	5.308891	0.95629	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.96	-1.92	0.07618	.	.	.	.	.	.	.	.	.	.	.	0.29713	N	0.83923	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.821	0.23857	0.0:0.4448:0.5552:0.0	.	.	.	.	X	732	.	ENSP00000285879:Q732X	Q	+	1	0	MAGEC1	140823050	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.256000	0.08757	-1.064000	0.03172	-1.059000	0.02297	CAG		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		100	84	0	0	0	0.048971	0	100	84		
MTMR1	8776	broad.mit.edu	37	X	149900044	149900044	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:149900044G>A	ENST00000370390.3	+	8	977	c.820G>A	c.(820-822)Gat>Aat	p.D274N	MTMR1_ENST00000542156.1_Missense_Mutation_p.D274N|MTMR1_ENST00000451863.2_Missense_Mutation_p.D274N|MTMR1_ENST00000445323.2_Missense_Mutation_p.D282N|MTMR1_ENST00000541925.1_Missense_Mutation_p.D180N|MTMR1_ENST00000538506.1_Missense_Mutation_p.D161N|MTMR1_ENST00000544228.1_Missense_Mutation_p.D274N	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	274	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAAAGATGATGACCTTTC	0.358																																						uc004fei.2		NaN																	0				ovary(1)	1						c.(820-822)GAT>AAT		myotubularin-related protein 1							118.0	110.0	113.0					X																	149900044		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149900044G>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.820G>A	X.37:g.149900044G>A	ENSP00000359417:p.Asp274Asn					MTMR1_uc011mya.1_Missense_Mutation_p.D180N|MTMR1_uc004feg.1_Missense_Mutation_p.D274N|MTMR1_uc004feh.1_Missense_Mutation_p.D282N|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	p.D274N	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			8	955	+	Acute lymphoblastic leukemia(192;6.56e-05)		274			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.820G>A	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590647	0.96590	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.42	5.42	0.78866	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.176994	0.64402	D	0.000010	D	0.93706	0.7989	L	0.57130	1.785	0.80722	D	1	P;B;B	0.41947	0.766;0.045;0.1	P;B;B	0.57776	0.827;0.067;0.098	D	0.92496	0.6004	9	.	.	.	.	18.5712	0.91136	0.0:0.0:1.0:0.0	.	274;282;274	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	N	180;274;274;282;274;274;161	ENSP00000441879:D180N;ENSP00000445281:D274N;ENSP00000359417:D274N;ENSP00000414178:D282N;ENSP00000440534:D274N;ENSP00000387446:D274N;ENSP00000443444:D161N	.	D	+	1	0	MTMR1	149650702	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.415000	0.81967	0.544000	0.68410	GAT		0.358	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2		NM_003828, NM_176789		52	30	0	0	0	0.048971	0	52	30		
DUSP9	1852	broad.mit.edu	37	X	152915679	152915679	+	Silent	SNP	G	G	T	rs139744131	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:152915679G>T	ENST00000342782.3	+	4	1339	c.1074G>T	c.(1072-1074)ggG>ggT	p.G358G	DUSP9_ENST00000370167.4_Silent_p.G358G			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	358	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGGGGGGCAGGCATCTG	0.672													G|||	1	0.000264901	0.0	0.0	3775	,	,		8979	0.0		0.001	False		,,,				2504	0.0					uc004fhx.3		NaN																	0				ovary(2)	2						c.(1072-1074)GGG>GGT		dual specificity phosphatase 9		G		0,3835		0,0,0,1632,571	79.0	71.0	73.0		1074	1.6	0.2	X	dbSNP_134	73	13,6715		0,10,3,2418,1869	no	coding-synonymous	DUSP9	NM_001395.2		0,10,3,4050,2440	TT,TG,T,GG,G		0.1932,0.0,0.1231		358/385	152915679	13,10550	2203	4300	6503	SO:0001819	synonymous_variant	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915679G>T	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1074G>T	X.37:g.152915679G>T						DUSP9_uc004fhy.3_Silent_p.G358G	p.G358G	NM_001395	NP_001386	Q99956	DUS9_HUMAN			4	1278	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		358			Tyrosine-protein phosphatase.		D3DWU5	Silent	SNP	ENST00000342782.3	37	c.1074G>T	CCDS14724.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	5.835	0.338332	0.11069	0.0	0.001932	ENSG00000130829	ENST00000433144	T	0.02916	4.11	4.46	1.56	0.23342	.	0.863846	0.09986	N	0.730422	T	0.02533	0.0077	.	.	.	0.24518	N	0.994177	.	.	.	.	.	.	T	0.50980	-0.8763	7	0.22109	T	0.4	.	7.2821	0.26318	0.0947:0.3136:0.5917:0.0	.	.	.	.	V	329	ENSP00000415557:G329V	ENSP00000415557:G329V	G	+	2	0	DUSP9	152568873	1.000000	0.71417	0.183000	0.23137	0.003000	0.03518	0.831000	0.27476	0.090000	0.17273	-0.343000	0.07986	GGC		0.672	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3		NM_001395		7	117	1	0	0.00198382	0.02938	0.00199318	7	117		
ARID1A	8289	broad.mit.edu	37	1	27107085	27107102	+	In_Frame_Del	DEL	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT	-	rs542602060		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCGGGCTGCCCGCGCGCT	-	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT	ENST00000324856.7	+	20	7067_7084	c.6696_6713delGCGGGCTGCCCGCGCGCT	c.(6694-6714)cggcgggctgcccgcgcgctg>cgg	p.RAARAL2233del	ARID1A_ENST00000457599.2_In_Frame_Del_p.RAARAL2016del|ARID1A_ENST00000540690.1_In_Frame_Del_p.RAARAL561del|ARID1A_ENST00000374152.2_In_Frame_Del_p.RAARAL1850del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2233					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.A2235fs*32(1)|p.L2238fs*40(1)|p.M2231fs*32(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTG	0.573			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.L2238fs*40(1)|p.A2235fs*32(1)	ovary(2)|liver(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6694-6714)CGGCGGGCTGCCCGCGCGCTG>CGG		AT rich interactive domain 1A isoform a																																				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6696_6713delGCGGGCTGCCCGCGCGCT	1.37:g.27107085_27107102delGCGGGCTGCCCGCGCGCT	ENSP00000320485:p.Arg2233_Leu2238del					ARID1A_uc001bmu.1_In_Frame_Del_p.RAARAL2016del|ARID1A_uc001bmx.1_In_Frame_Del_p.RAARAL1079del|ARID1A_uc009vsm.1_In_Frame_Del_p.RAARAL561del|ARID1A_uc009vsn.1_In_Frame_Del_p.RAARAL475del	p.RAARAL2233del	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	7069_7086	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2233_2238					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.6696_6713delGCGGGCTGCCCGCGCGCT	CCDS285.1																																																																																				0.573	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		27	123	NaN	NaN	NaN	NaN	NaN	27	123	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(16-18)CCCfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	p.P6fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	273_274	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		7	32	NaN	NaN	NaN	NaN	NaN	7	32	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16838371	16838390	+	Frame_Shift_Del	DEL	CCTTGGAGAATCCCCCAGCG	CCTTGGAGAATCCCCCAGCG	-	rs536079251|rs142792914		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG	ENST00000355661.3	-	11	1833_1852	c.1823_1842delCGCTGGGGGATTCTCCAAGG	c.(1822-1842)tcgctgggggattctccaaggfs	p.SLGDSPR608fs	PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.SLGDSPR608fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.SLGDSPR608fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	608	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						CCCGTGCCCTCCTTGGAGAATCCCCCAGCGAGATGTCCAC	0.641																																						uc001mmo.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1822-1842)TCGCTGGGGGATTCTCCAAGGfs		pleckstrin homology domain containing, family A																																				SO:0001589	frameshift_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG	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.1823_1842delCGCTGGGGGATTCTCCAAGG	11.37:g.16838371_16838390delCCTTGGAGAATCCCCCAGCG	ENSP00000347883:p.Ser608fs					PLEKHA7_uc010rcu.1_Frame_Shift_Del_p.S608fs|PLEKHA7_uc010rcv.1_Frame_Shift_Del_p.S182fs|PLEKHA7_uc001mmn.2_Frame_Shift_Del_p.S316fs	p.S608fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			11	1838_1857	-			608_614			Interaction with CTNND1.		B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Del	DEL	ENST00000355661.3	37	c.1823_1842delCGCTGGGGGATTCTCCAAGG	CCDS31434.1																																																																																				0.641	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058		9	72	NaN	NaN	NaN	NaN	NaN	9	72	---	---
MBD6	114785	broad.mit.edu	37	12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:57920934delC	ENST00000355673.3	+	7	2362	c.2006delC	c.(2005-2007)gccfs	p.A669fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.A669fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCACTTTCAGCCCCCCCTACC	0.642																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2005-2007)GCCfs		methyl-CpG binding domain protein 6							17.0	18.0	18.0					12																	57920934		2200	4294	6494	SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920934delC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2006delC	12.37:g.57920934delC	ENSP00000347896:p.Ala669fs					MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA	p.A669fs	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			7	2230	+			669			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.2006delC	CCDS8944.1																																																																																				0.642	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				28	24	NaN	NaN	NaN	NaN	NaN	28	24	---	---
FLT3	2322	broad.mit.edu	37	13	28609758	28609759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:28609758_28609759insT	ENST00000241453.7	-	12	1551_1552	c.1470_1471insA	c.(1468-1473)aaagtgfs	p.V491fs	FLT3_ENST00000380982.4_Frame_Shift_Ins_p.V491fs|FLT3_ENST00000537084.1_Frame_Shift_Ins_p.V491fs	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	491					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V491L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAAACACTTTTCTGTTAG	0.426			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NaN		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		2	Substitution - Missense(2)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1468-1473)AAAGTGfs		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609758_28609759insT	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1471dupA	13.37:g.28609762_28609762dupT	ENSP00000241453:p.Val491fs					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Ins_p.K490fs	p.K490fs	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1552_1553	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	490_491			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Frame_Shift_Ins	INS	ENST00000241453.7	37	c.1470_1471insA	CCDS31953.1																																																																																				0.426	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2				60	126	NaN	NaN	NaN	NaN	NaN	60	126	---	---
FOXA1	3169	broad.mit.edu	37	14	38060758	38060762	+	Frame_Shift_Del	DEL	GCTCC	GCTCC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCTCC	-	GCTCC	GCTCC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:38060758_38060762delGCTCC	ENST00000250448.2	-	2	1288_1292	c.1227_1231delGGAGC	c.(1225-1233)tcggagcagfs	p.EQ410fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.EQ377fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	410					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTATGCTGCTGCTCCGAGGAGGACA	0.6																																						uc001wuf.2		NaN																	0					0						c.(1225-1233)TCGGAGCAGfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060758_38060762delGCTCC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1227_1231delGGAGC	14.37:g.38060758_38060762delGCTCC	ENSP00000250448:p.Glu410fs					FOXA1_uc010tpz.1_Frame_Shift_Del_p.S376fs	p.S409fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1539_1543	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		409_411					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.1227_1231delGGAGC	CCDS9665.1																																																																																				0.600	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				11	49	NaN	NaN	NaN	NaN	NaN	11	49	---	---
ITGAE	3682	broad.mit.edu	37	17	3661102	3661104	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:3661102_3661104delGAC	ENST00000263087.4	-	9	1014_1016	c.916_918delGTC	c.(916-918)gtcdel	p.V306del		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCACCACCATGACCTTGGATGCC	0.532																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NaN																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(916-918)GTCdel		integrin, alpha E precursor				0,4264		0,0,2132						5.6	1.0			207	2,8250		0,2,4124	no	coding	ITGAE	NM_002208.4		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016				2,12514				SO:0001651	inframe_deletion	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661102_3661104delGAC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.916_918delGTC	17.37:g.3661102_3661104delGAC	ENSP00000263087:p.Val306del						p.V306del	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1015_1017	-			306			VWFA.|Extracellular (Potential).		Q17RS6|Q9NZU9	In_Frame_Del	DEL	ENST00000263087.4	37	c.916_918delGTC	CCDS32531.1																																																																																				0.532	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1		NM_002208		13	300	NaN	NaN	NaN	NaN	NaN	13	300	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						uc002nfe.2		NaN																	0					0						c.(1207-1212)TCTCGTfs		sarcoma antigen NY-SAR-48 isoform a																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs	p.S403fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			11	1320_1321	-			403_404					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1209_1210delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1		NM_001011699		7	261	NaN	NaN	NaN	NaN	NaN	7	261	---	---
ZNF223	7766	broad.mit.edu	37	19	44564985	44564985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:44564985delG	ENST00000434772.3	+	4	481	c.226delG	c.(226-228)gggfs	p.G76fs	ZNF223_ENST00000585552.1_Frame_Shift_Del_p.G76fs|ZNF223_ENST00000591793.1_Frame_Shift_Del_p.G186fs	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCAAAGGGAAGGGAATTCAGG	0.433																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(226-228)GGGfs		zinc finger protein 223							163.0	158.0	160.0					19																	44564985		2203	4300	6503	SO:0001589	frameshift_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564985delG	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.226delG	19.37:g.44564985delG	ENSP00000401947:p.Gly76fs					ZNF284_uc010ejd.2_RNA	p.G76fs	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			4	479	+		Prostate(69;0.0352)	76			KRAB.		Q15736|Q8TBJ3|Q9HCA9	Frame_Shift_Del	DEL	ENST00000434772.3	37	c.226delG	CCDS12635.1																																																																																				0.433	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				46	146	NaN	NaN	NaN	NaN	NaN	46	146	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:43452831_43452832insC	ENST00000282388.3	-	2	404_405	c.111_112insG	c.(109-114)gggacgfs	p.T38fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	38					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663																																						uc002rsv.3		NaN																	0					0						c.(109-114)GGGACGfs		zinc finger protein 36, C3H type-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452831_43452832insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.112dupG	2.37:g.43452835_43452835dupC	ENSP00000282388:p.Thr38fs					LOC100129726_uc010ynx.1_5'Flank	p.G37fs	NM_006887	NP_008818	P47974	TISD_HUMAN			2	402_403	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	37_38					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.111_112insG	CCDS1811.1																																																																																				0.663	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		21	19	NaN	NaN	NaN	NaN	NaN	21	19	---	---
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:49005998delC	ENST00000356401.4	+	7	909	c.570delC	c.(568-570)ctcfs	p.L190fs	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Frame_Shift_Del_p.L190fs	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	190					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.502																																						uc003cvb.2		NaN																	0				ovary(1)	1						c.(568-570)CTCfs		ariadne homolog 2							166.0	156.0	160.0					3																	49005998		2203	4300	6503	SO:0001589	frameshift_variant	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49005998delC	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.570delC	3.37:g.49005998delC	ENSP00000348769:p.Leu190fs					ARIH2_uc003cvc.2_Frame_Shift_Del_p.L190fs|ARIH2_uc003cvf.2_Frame_Shift_Del_p.L108fs|ARIH2_uc010hkl.2_Frame_Shift_Del_p.L190fs	p.L190fs	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	7	882	+			190					Q9HBZ6|Q9UEM9	Frame_Shift_Del	DEL	ENST00000356401.4	37	c.570delC	CCDS2780.1																																																																																				0.502	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1		NM_006321		151	155	NaN	NaN	NaN	NaN	NaN	151	155	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3352-3354)AAGfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3916	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3353delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		8	554	NaN	NaN	NaN	NaN	NaN	8	554	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283947	100283948	+	Frame_Shift_Ins	INS	-	-	C	rs368087258		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100283947_100283948insC	ENST00000275732.5	-	8	2012_2013	c.803_804insG	c.(802-804)ggafs	p.G268fs	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	268	Poly-Gly.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCTCCCCCTCCCCGCCCCTC	0.644																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(802-804)GGAfs		PERQ amino acid rich, with GYF domain 1																																				SO:0001589	frameshift_variant	64599							g.chr7:100283947_100283948insC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.804dupG	7.37:g.100283951_100283951dupC	ENSP00000275732:p.Gly268fs						p.G268fs	NM_022574	NP_072096	O75420	PERQ1_HUMAN			8	1812_1813	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		268			Poly-Gly.		Q6Y7W7|Q8WZ38	Frame_Shift_Ins	INS	ENST00000275732.5	37	c.803_804insG	CCDS34708.1																																																																																				0.644	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		7	186	NaN	NaN	NaN	NaN	NaN	7	186	---	---
