#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					uc001auk.2																			1	Substitution - Missense(1)		kidney(1)		0						c.(1051-1053)TGC>TCC		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1248	-			351			LRR 6.			Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341	
SEPN1	57190	broad.mit.edu	37	1	26140414	26140414	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:26140414C>A	ENST00000374315.1	+	10	1366	c.1328C>A	c.(1327-1329)cCc>cAc	p.P443H	RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000361547.2_Missense_Mutation_p.P477H|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000354177.4_Missense_Mutation_p.P443H	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	477						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTCGCCCATCCTCACC	0.612																																						uc010oer.1																			0				ovary(2)	2						c.(1429-1431)CCC>CAC		selenoprotein N, 1 isoform 1 precursor							89.0	94.0	92.0					1																	26140414		2037	4184	6221	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26140414C>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1328C>A	1.37:g.26140414C>A	ENSP00000363434:p.Pro443His					SEPN1_uc010oes.1_Missense_Mutation_p.P443H	p.P477H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	14	1485	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	477					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1430C>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968830	0.92855	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.90261	-2.64;-2.64;-2.64	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94565	0.8249	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94769	0.7943	10	0.72032	D	0.01	-29.6739	19.256	0.93945	0.0:1.0:0.0:0.0	.	443;477	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	477;443;443	ENSP00000355141:P477H;ENSP00000346109:P443H;ENSP00000363434:P443H	ENSP00000346109:P443H	P	+	2	0	SEPN1	26013001	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.437000	0.80417	2.561000	0.86390	0.462000	0.41574	CCC		0.612	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451	
NTNG1	22854	broad.mit.edu	37	1	107867040	107867040	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:107867040A>G	ENST00000370068.1	+	3	1229	c.383A>G	c.(382-384)aAg>aGg	p.K128R	NTNG1_ENST00000370067.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370073.2_Missense_Mutation_p.K128R|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370070.2_Missense_Mutation_p.K128R|NTNG1_ENST00000542803.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370066.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370061.3_Missense_Mutation_p.K128R|NTNG1_ENST00000370071.2_Missense_Mutation_p.K128R|NTNG1_ENST00000370072.3_Missense_Mutation_p.K128R|NTNG1_ENST00000370065.1_Missense_Mutation_p.K128R|NTNG1_ENST00000370074.4_Missense_Mutation_p.K128R			Q9Y2I2	NTNG1_HUMAN	netrin G1	128	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTATCCCAAGCCTCTCCAG	0.478																																						uc001dvh.3																			0				large_intestine(2)|ovary(2)|skin(2)	6						c.(382-384)AAG>AGG		netrin G1 isoform 1							110.0	115.0	113.0					1																	107867040		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867040A>G	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.383A>G	1.37:g.107867040A>G	ENSP00000359085:p.Lys128Arg					NTNG1_uc001dvf.3_Missense_Mutation_p.K128R|NTNG1_uc010out.1_Missense_Mutation_p.K128R|NTNG1_uc001dvc.3_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	p.K128R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1101	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	128			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.383A>G	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917384	0.73098	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.83	5.83	0.93111	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000005	T	0.77391	0.4123	L	0.40543	1.245	0.58432	D	0.999996	D;D;P;D;P	0.76494	0.995;0.999;0.883;0.99;0.809	D;D;P;D;B	0.85130	0.993;0.997;0.545;0.966;0.353	T	0.79536	-0.1763	10	0.52906	T	0.07	.	16.2015	0.82084	1.0:0.0:0.0:0.0	.	128;128;128;128;128	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	R	128	ENSP00000359090:K128R;ENSP00000359088:K128R;ENSP00000440561:K128R;ENSP00000359078:K128R;ENSP00000359089:K128R;ENSP00000359087:K128R;ENSP00000359091:K128R;ENSP00000359085:K128R;ENSP00000359084:K128R;ENSP00000359083:K128R;ENSP00000359082:K128R	ENSP00000294649:K128R	K	+	2	0	NTNG1	107668563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.230000	0.72887	0.533000	0.62120	AAG		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
AKNAD1	254268	broad.mit.edu	37	1	109395162	109395162	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:109395162T>C	ENST00000370001.3	-	2	393	c.125A>G	c.(124-126)gAa>gGa	p.E42G	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E42G|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E42G	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	42						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTTAAGACTTCAAGGCCATC	0.408																																						uc001dwa.2																			0				ovary(3)	3						c.(124-126)GAA>GGA		hypothetical protein LOC254268							96.0	93.0	94.0					1																	109395162		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109395162T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.125A>G	1.37:g.109395162T>C	ENSP00000359018:p.Glu42Gly					AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	p.E42G	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			2	394	-			42					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.125A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	8.524	0.869480	0.17322	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.09073	3.04;3.06;3.02	5.45	1.8	0.24995	.	0.650998	0.14732	N	0.301700	T	0.01765	0.0056	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47509	-0.9112	10	0.25106	T	0.35	-0.3464	5.4652	0.16639	0.0:0.2733:0.1442:0.5825	.	42	Q5T1N1	AKND1_HUMAN	G	42	ENSP00000359018:E42G;ENSP00000359011:E42G;ENSP00000359012:E42G	ENSP00000359011:E42G	E	-	2	0	AKNAD1	109196685	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.007000	0.13174	0.113000	0.18004	0.533000	0.62120	GAA		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
IFI16	3428	broad.mit.edu	37	1	159015232	159015232	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159015232C>A	ENST00000295809.7	+	8	1730	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	IFI16_ENST00000359709.3_Missense_Mutation_p.P436Q|IFI16_ENST00000430894.2_Missense_Mutation_p.P440Q|IFI16_ENST00000368131.4_Missense_Mutation_p.P492Q|IFI16_ENST00000448393.2_Intron|IFI16_ENST00000368132.3_Intron|IFI16_ENST00000340979.6_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	492					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCATCAACACCAAGCAGCAGT	0.488																																						uc010pis.1																			0				ovary(1)	1						c.(1306-1308)CCA>CAA		interferon, gamma-inducible protein 16							138.0	136.0	137.0					1																	159015232		2202	4284	6486	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159015232C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1475C>A	1.37:g.159015232C>A	ENSP00000295809:p.Pro492Gln					IFI16_uc001ftg.2_Intron|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Missense_Mutation_p.P91Q	p.P436Q	NM_005531	NP_005522	Q16666	IF16_HUMAN			7	1486	+	all_hematologic(112;0.0429)		492					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1307C>A		.	.	.	.	.	.	.	.	.	.	c	6.344	0.431616	0.12045	.	.	ENSG00000163565	ENST00000295809;ENST00000368131;ENST00000430894	T;T;T	0.04917	3.62;3.55;3.53	2.63	1.69	0.24217	.	.	.	.	.	T	0.05410	0.0143	L	0.43923	1.385	0.09310	N	1	D	0.64830	0.994	P	0.59115	0.852	T	0.29243	-1.0018	9	0.87932	D	0	.	6.7097	0.23270	0.281:0.719:0.0:0.0	.	440	E7EPR3	.	Q	492;492;440	ENSP00000295809:P492Q;ENSP00000357113:P492Q;ENSP00000394935:P440Q	ENSP00000295809:P492Q	P	+	2	0	IFI16	157281856	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.145000	0.10265	0.636000	0.30508	0.514000	0.50259	CCA		0.488	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	
IGSF9	57549	broad.mit.edu	37	1	159897140	159897140	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159897140G>A	ENST00000368094.1	-	21	3732	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	IGSF9_ENST00000361509.3_Silent_p.L1163L|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1179					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCACAGCAGAGTGGCC	0.607																																						uc001fur.2																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3535-3537)CTG>TTG		immunoglobulin superfamily, member 9 isoform a							55.0	59.0	57.0					1																	159897140		2189	4270	6459	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159897140G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3535C>T	1.37:g.159897140G>A						IGSF9_uc001fuq.2_Silent_p.L1163L|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	p.L1179L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3733	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1179			PDZ-binding (By similarity).|Cytoplasmic (Potential).			Silent	SNP	ENST00000368094.1	37	c.3535C>T	CCDS44254.1																																																																																				0.607	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
FMO3	2328	broad.mit.edu	37	1	171077238	171077238	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:171077238G>A	ENST00000367755.4	+	5	614	c.503G>A	c.(502-504)gGc>gAc	p.G168D	FMO3_ENST00000542847.1_Missense_Mutation_p.G148D|FMO3_ENST00000392085.2_Missense_Mutation_p.G168D|FMO3_ENST00000538429.1_Missense_Mutation_p.G105D	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	168					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CACTTTAAAGGCAAATGCTTC	0.423																																						uc001ghi.2																			0				skin(1)	1						c.(502-504)GGC>GAC		flavin containing monooxygenase 3							115.0	124.0	121.0					1																	171077238		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171077238G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.503G>A	1.37:g.171077238G>A	ENSP00000356729:p.Gly168Asp					FMO3_uc001ghh.2_Missense_Mutation_p.G168D|FMO3_uc010pmb.1_Missense_Mutation_p.G148D|FMO3_uc010pmc.1_Missense_Mutation_p.G105D	p.G168D	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			5	614	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		168					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.503G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601816	0.87055	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.92784	3.345	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	0.88558	0.3121	10	0.87932	D	0	-18.3074	18.0577	0.89368	0.0:0.0:1.0:0.0	.	105;148;168	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	D	168;168;148;105	ENSP00000356729:G168D;ENSP00000375935:G168D;ENSP00000444073:G148D;ENSP00000439500:G105D	ENSP00000356729:G168D	G	+	2	0	FMO3	169343862	1.000000	0.71417	0.996000	0.52242	0.798000	0.45092	9.864000	0.99589	2.322000	0.78497	0.563000	0.77884	GGC		0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
OR14A16	284532	broad.mit.edu	37	1	247978223	247978223	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:247978223A>G	ENST00000357627.1	-	1	808	c.809T>C	c.(808-810)gTa>gCa	p.V270A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	270						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGAAATTACAGCATCCAA	0.413																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			0					0						c.(808-810)GTA>GCA		olfactory receptor, family 14, subfamily A,							71.0	70.0	70.0					1																	247978223		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978223A>G	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.809T>C	1.37:g.247978223A>G	ENSP00000350248:p.Val270Ala						p.V270A	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	809	-			270			Helical; Name=7; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.809T>C	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	9.334	1.061179	0.19987	.	.	ENSG00000196772	ENST00000357627	T	0.00262	8.4	3.69	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	2.726190	0.02989	U	0.146658	T	0.00178	0.0005	N	0.25992	0.78	0.09310	N	1	B	0.27192	0.171	B	0.36608	0.229	T	0.41875	-0.9484	10	0.22706	T	0.39	.	1.576	0.02624	0.5483:0.1802:0.0978:0.1737	.	270	Q8NHC5	O14AG_HUMAN	A	270	ENSP00000350248:V270A	ENSP00000350248:V270A	V	-	2	0	OR14A16	246044846	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.605000	0.36815	0.483000	0.27608	0.486000	0.48141	GTA		0.413	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966	
ANKRD26	22852	broad.mit.edu	37	10	27324683	27324683	+	Splice_Site	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:27324683T>C	ENST00000376087.4	-	24	2863		c.e24-2		ANKRD26_ENST00000436985.2_Splice_Site|ANKRD26_ENST00000376070.3_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGAATTCTAAGTAAAACA	0.313																																						uc001ith.2																			0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.e24-1		ankyrin repeat domain 26							23.0	20.0	21.0					10																	27324683		1800	4056	5856	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27324683T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2698-2A>G	10.37:g.27324683T>C						ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc009xku.1_Splice_Site_p.N900_splice	p.N899_splice	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	2867	-								A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	ENST00000376087.4	37	c.2695_splice	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.288416	0.23478	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8035	0.63216	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD26	27364689	1.000000	0.71417	0.830000	0.32933	0.048000	0.14542	3.986000	0.56937	2.160000	0.67779	0.482000	0.46254	.		0.313	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Intron
TLL2	7093	broad.mit.edu	37	10	98173027	98173027	+	Missense_Mutation	SNP	C	C	T	rs61743696		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:98173027C>T	ENST00000357947.3	-	8	1195	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	324	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGCCTGACGCCATTGTCA	0.522																																						uc001kml.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(970-972)GTC>ATC		tolloid-like 2 precursor		C	ILE/VAL	0,4406		0,0,2203	67.0	62.0	64.0		970	0.3	1.0	10	dbSNP_129	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	TLL2	NM_012465.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	324/1016	98173027	2,13004	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98173027C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.970G>A	10.37:g.98173027C>T	ENSP00000350630:p.Val324Ile					TLL2_uc009xvf.1_Missense_Mutation_p.V272I	p.V324I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	8	1196	-		Colorectal(252;0.0846)	324			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.970G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430998	0.25726	0.0	2.33E-4	ENSG00000095587	ENST00000357947	T	0.63096	-0.02	5.28	0.281	0.15687	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.170979	0.27289	N	0.020045	T	0.39226	0.1070	N	0.17474	0.49	0.41153	D	0.986044	B	0.02656	0.0	B	0.04013	0.001	T	0.15983	-1.0418	10	0.10636	T	0.68	.	11.5928	0.50955	0.0:0.8109:0.0:0.1891	.	324	Q9Y6L7	TLL2_HUMAN	I	324	ENSP00000350630:V324I	ENSP00000350630:V324I	V	-	1	0	TLL2	98163017	0.133000	0.22466	0.977000	0.42913	0.992000	0.81027	0.755000	0.26405	-0.211000	0.10124	0.455000	0.32223	GTC		0.522	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
RPEL1	729020	broad.mit.edu	37	10	105005929	105005929	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:105005929A>G	ENST00000441178.2	+	1	286	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_001143909.1	NP_001137381.1																					AGCCTTCGAAAGCAGCTAGGC	0.498																																						uc009xxi.2																			0					0						c.(175-177)AAG>AGG		rcRPE protein							155.0	128.0	136.0					10																	105005929		692	1591	2283	SO:0001583	missense	729020				carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity	g.chr10:105005929A>G																												ENST00000441178.2:c.176A>G	10.37:g.105005929A>G	ENSP00000476672:p.Lys59Arg					uc001kwr.2_Intron	p.K59R	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN			1	286	+			59						Missense_Mutation	SNP	ENST00000441178.2	37	c.176A>G																																																																																					0.498	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050120.2		
INS	3630	broad.mit.edu	37	11	2181187	2181187	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:2181187G>C	ENST00000397262.1	-	2	460	c.228C>G	c.(226-228)agC>agG	p.S76R	INS-IGF2_ENST00000397270.1_Intron|INS_ENST00000512523.1_Missense_Mutation_p.S64R|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000381330.4_Missense_Mutation_p.S76R|INS_ENST00000250971.3_Missense_Mutation_p.S76R	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	76					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		AGGGCTGCAGGCTGCCTGCAC	0.662																																						uc001lvn.1																			0					0						c.(226-228)AGC>AGG		proinsulin precursor							34.0	30.0	32.0					11																	2181187		2177	4282	6459	SO:0001583	missense	3630				activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding	g.chr11:2181187G>C	X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"""insulin-dependent diabetes mellitus 2"""	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.228C>G	11.37:g.2181187G>C	ENSP00000380432:p.Ser76Arg					INS-IGF2_uc001lvi.2_Intron|INS-IGF2_uc001lvm.2_Intron|INS_uc001lvo.1_Missense_Mutation_p.S76R|INS_uc009ydg.1_Missense_Mutation_p.S64R	p.S76R	NM_000207	NP_000198	P01308	INS_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	3	283	-		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	76					Q5EEX2	Missense_Mutation	SNP	ENST00000397262.1	37	c.228C>G	CCDS7729.1	.	.	.	.	.	.	.	.	.	.	G	7.787	0.710663	0.15239	.	.	ENSG00000254647	ENST00000397262;ENST00000250971;ENST00000381330;ENST00000512523	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	3.21	2.24	0.28232	Insulin-like (4);	.	.	.	.	T	0.81754	0.4889	L	0.34521	1.04	0.20926	N	0.999821	P;B	0.36282	0.546;0.004	B;B	0.36608	0.229;0.007	T	0.69587	-0.5105	9	0.37606	T	0.19	.	7.9063	0.29763	0.0:0.0:0.7529:0.247	.	64;76	A6XGL2;P01308	.;INS_HUMAN	R	76;76;76;64	ENSP00000380432:S76R;ENSP00000250971:S76R;ENSP00000370731:S76R;ENSP00000424008:S64R	ENSP00000250971:S76R	S	-	3	2	INS	2137763	0.805000	0.28982	0.015000	0.15790	0.049000	0.14656	1.586000	0.36611	0.604000	0.29930	0.462000	0.41574	AGC		0.662	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207	
CCKBR	887	broad.mit.edu	37	11	6291993	6291993	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:6291993C>T	ENST00000334619.2	+	4	964	c.771C>T	c.(769-771)agC>agT	p.S257S	CCKBR_ENST00000532715.1_Silent_p.S173S|CCKBR_ENST00000525462.1_Silent_p.S257S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	257					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACAGTGACAGCGACAGCCAAA	0.622																																						uc001mcp.2																			0				lung(5)|ovary(2)|breast(1)	8						c.(769-771)AGC>AGT		cholecystokinin B receptor	Pentagastrin(DB00183)						81.0	68.0	72.0					11																	6291993		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291993C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.771C>T	11.37:g.6291993C>T						CCKBR_uc001mcq.2_Silent_p.S185S|CCKBR_uc001mcr.2_Silent_p.S257S|CCKBR_uc001mcs.2_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	p.S257S	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	964	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	257			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.771C>T	CCDS7761.1																																																																																				0.622	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
RAG1	5896	broad.mit.edu	37	11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:36595309C>T	ENST00000299440.5	+	2	567	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(454-456)CCG>CTG		recombination activating gene 1							77.0	73.0	74.0					11																	36595309		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595309C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.455C>T	11.37:g.36595309C>T	ENSP00000299440:p.Pro152Leu					RAG1_uc001mwt.2_RNA	p.P152L	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	579	+	all_lung(20;0.226)	all_hematologic(20;0.107)	152			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.455C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798720	0.90538	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73469	-0.75;-0.75	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	152	P15918	RAG1_HUMAN	L	152	ENSP00000434610:P152L;ENSP00000299440:P152L	ENSP00000299440:P152L	P	+	2	0	RAG1	36551885	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCG		0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
ACCSL	390110	broad.mit.edu	37	11	44077630	44077630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:44077630delA	ENST00000378832.1	+	10	1236	c.1180delA	c.(1180-1182)agtfs	p.S394fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	394					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTGGGGTACCAGTAAGGTGAG	0.443																																						uc001mxw.1																			0				ovary(5)	5						c.(1180-1182)AGTfs		1-aminocyclopropane-1-carboxylate synthase							147.0	138.0	141.0					11																	44077630		1921	4129	6050	SO:0001589	frameshift_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44077630delA		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1180delA	11.37:g.44077630delA	ENSP00000368109:p.Ser394fs					ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	p.S394fs	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			10	1236	+			394						Frame_Shift_Del	DEL	ENST00000378832.1	37	c.1180delA	CCDS41636.1																																																																																				0.443	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
CREB3L1	90993	broad.mit.edu	37	11	46341859	46341859	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:46341859T>C	ENST00000529193.1	+	11	1754	c.1303T>C	c.(1303-1305)Tgg>Cgg	p.W435R	CREB3L1_ENST00000288400.3_Missense_Mutation_p.W435R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	435					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCAGGCTTATGGGAAGATGG	0.652			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc001ncf.2				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				soft_tissue(6)|ovary(2)	8						c.(1303-1305)TGG>CGG		cAMP responsive element binding protein 3-like							33.0	35.0	34.0					11																	46341859		1962	4143	6105	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46341859T>C		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1303T>C	11.37:g.46341859T>C	ENSP00000434939:p.Trp435Arg					CREB3L1_uc001ncg.2_Missense_Mutation_p.W69R	p.W435R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1738	+			435			Lumenal (Potential).		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.1303T>C	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.465009	0.26335	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.63255	-0.03;-0.03	4.93	3.8	0.43715	.	1.011060	0.07959	N	0.982062	T	0.50086	0.1595	N	0.22421	0.69	0.24931	N	0.991915	P;B	0.52170	0.951;0.261	P;B	0.46362	0.514;0.094	T	0.25082	-1.0142	10	0.17369	T	0.5	-14.4676	7.7497	0.28890	0.0:0.1361:0.0:0.8639	.	347;435	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	R	435;435;347	ENSP00000434939:W435R;ENSP00000288400:W435R	ENSP00000288400:W435R	W	+	1	0	CREB3L1	46298435	0.979000	0.34478	0.894000	0.35097	0.939000	0.58152	2.138000	0.42140	1.864000	0.54056	0.352000	0.21897	TGG		0.652	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	
OR5A1	219982	broad.mit.edu	37	11	59211096	59211096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:59211096A>T	ENST00000302030.2	+	1	480	c.455A>T	c.(454-456)tAt>tTt	p.Y152F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGGGCATATGTTGGTGGC	0.547																																						uc001nnx.1																			0				ovary(1)|central_nervous_system(1)	2						c.(454-456)TAT>TTT		olfactory receptor, family 5, subfamily A,							265.0	248.0	253.0					11																	59211096		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211096A>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.455A>T	11.37:g.59211096A>T	ENSP00000303096:p.Tyr152Phe						p.Y152F	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	455	+			152			Helical; Name=4; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.455A>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	4.006	-0.001578	0.07819	.	.	ENSG00000172320	ENST00000302030	T	0.37411	1.2	5.98	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.137460	0.33496	N	0.004848	T	0.34424	0.0897	M	0.66560	2.04	0.09310	N	1	B	0.19817	0.039	B	0.31614	0.133	T	0.34900	-0.9810	10	0.46703	T	0.11	-22.3453	3.4402	0.07461	0.5794:0.0:0.1551:0.2654	.	152	Q8NGJ0	OR5A1_HUMAN	F	152	ENSP00000303096:Y152F	ENSP00000303096:Y152F	Y	+	2	0	OR5A1	58967672	0.000000	0.05858	0.010000	0.14722	0.075000	0.17131	-0.286000	0.08399	1.083000	0.41159	-0.274000	0.10170	TAT		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
CABP4	57010	broad.mit.edu	37	11	67225877	67225877	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:67225877G>A	ENST00000325656.5	+	5	764	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CABP4_ENST00000438189.2_Silent_p.A124A|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	229	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.652																																						uc001olo.2																			0					0						c.(685-687)GCG>GCA		calcium binding protein 4							62.0	65.0	64.0					11																	67225877		2200	4295	6495	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225877G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.687G>A	11.37:g.67225877G>A						CABP4_uc001oln.2_Silent_p.A124A	p.A229A	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		5	764	+			229			EF-hand 3.|2 (Potential).		Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.687G>A	CCDS8166.1																																																																																				0.652	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2		
APOBEC1	339	broad.mit.edu	37	12	7803627	7803627	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:7803627T>C	ENST00000229304.4	-	4	573	c.553A>G	c.(553-555)Ata>Gta	p.I185V		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	185	Leu-rich.				cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTAGAATTATGCAGTGCAGC	0.433																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			0					0						c.(553-555)ATA>GTA		apolipoprotein B mRNA editing enzyme							154.0	142.0	146.0					12																	7803627		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803627T>C	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.553A>G	12.37:g.7803627T>C	ENSP00000229304:p.Ile185Val					APOBEC1_uc001qtc.2_Missense_Mutation_p.I140V|APOBEC1_uc010sgf.1_Missense_Mutation_p.I185V	p.I185V	NM_001644	NP_001635	P41238	ABEC1_HUMAN			4	587	-			185			Leu-rich.		Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.553A>G	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758463	0.49468	.	.	ENSG00000111701	ENST00000229304	T	0.64618	-0.11	4.9	4.9	0.64082	.	0.113561	0.39020	N	0.001490	T	0.77260	0.4104	M	0.78223	2.4	0.25225	N	0.989879	D	0.69078	0.997	D	0.80764	0.994	T	0.70193	-0.4939	10	0.62326	D	0.03	-24.4458	11.2091	0.48786	0.0:0.0:0.0:1.0	.	185	P41238	ABEC1_HUMAN	V	185	ENSP00000229304:I185V	ENSP00000229304:I185V	I	-	1	0	APOBEC1	7694894	0.998000	0.40836	0.999000	0.59377	0.443000	0.32047	3.367000	0.52350	1.960000	0.56953	0.533000	0.62120	ATA		0.433	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Intron	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:11506566C>T	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597																																						uc001qzw.1																			0					0						c.(469-471)AAG>AAA		proline-rich protein BstNI subfamily 1 isoform 1							13.0	8.0	10.0					12																	11506566		1174	1923	3097	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506566C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+157G>A	12.37:g.11506566C>T						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.K157K	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	508	-			218		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	9.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.471G>A	CCDS8642.1																																																																																				0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
KRT75	9119	broad.mit.edu	37	12	52828035	52828035	+	Silent	SNP	G	G	A	rs140932366		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:52828035G>A	ENST00000252245.5	-	1	274	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	18	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCGAGGTGGTGCTGAAGCCCC	0.672																																						uc001saj.2																			0					0						c.(52-54)AGC>AGT		keratin 75							17.0	22.0	20.0					12																	52828035		2150	4234	6384	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52828035G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.54C>T	12.37:g.52828035G>A							p.S18S	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	76	-			18			Head.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.54C>T	CCDS8827.1																																																																																				0.672	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
OR6C68	403284	broad.mit.edu	37	12	55886262	55886262	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:55886262T>A	ENST00000548615.1	+	1	101	c.101T>A	c.(100-102)aTg>aAg	p.M34K	OR6C68_ENST00000379662.1_Missense_Mutation_p.M39K|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	34						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(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATCACCTACATGTTGAGTGTA	0.398																																						uc010spo.1																			0				skin(1)	1						c.(115-117)ATG>AAG		olfactory receptor, family 6, subfamily C,							180.0	166.0	170.0					12																	55886262		2203	4300	6503	SO:0001583	missense	403284				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55886262T>A		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.101T>A	12.37:g.55886262T>A	ENSP00000448811:p.Met34Lys						p.M39K	NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN			1	116	+			34			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000548615.1	37	c.116T>A	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897664	0.52121	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.03065	4.06;4.06	4.77	1.01	0.19927	.	1.264820	0.05610	N	0.578037	T	0.06781	0.0173	M	0.76574	2.34	0.09310	N	1	B	0.32051	0.354	B	0.31191	0.125	T	0.38628	-0.9652	10	0.87932	D	0	.	5.13	0.14905	0.1337:0.1514:0.0:0.7148	.	34	A6NDL8	O6C68_HUMAN	K	39;34	ENSP00000368983:M39K;ENSP00000448811:M34K	ENSP00000368983:M39K	M	+	2	0	OR6C68	54172529	0.012000	0.17670	0.182000	0.23118	0.368000	0.29767	1.944000	0.40263	0.080000	0.16959	0.487000	0.48397	ATG		0.398	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1		
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:62148677G>A	ENST00000416284.3	-	3	1819	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.R79*	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502																																						uc001sqw.2																			0				ovary(1)	1						c.(235-237)CGA>TGA		family with sequence similarity 19 (chemokine							172.0	117.0	136.0					12																	62148677		2203	4300	6503	SO:0001587	stop_gained	338811					cytoplasm		g.chr12:62148677G>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.235C>T	12.37:g.62148677G>A	ENSP00000393987:p.Arg79*					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.2_RNA	p.R79*	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1748	-			79					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Nonsense_Mutation	SNP	ENST00000416284.3	37	c.235C>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462806	0.63513	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	4.3	0.51218	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8801	0.58012	0.0:0.0:0.7043:0.2957	.	.	.	.	X	79;79;80;86;80	.	.	R	-	1	2	FAM19A2	60434944	0.713000	0.27926	0.819000	0.32651	0.502000	0.33828	0.937000	0.28951	1.172000	0.42781	0.558000	0.71614	CGA		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539	
GRIP1	23426	broad.mit.edu	37	12	66800092	66800092	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:66800092A>G	ENST00000398016.3	-	15	1867	c.1799T>C	c.(1798-1800)cTc>cCc	p.L600P	GRIP1_ENST00000286445.7_Missense_Mutation_p.L652P|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000359742.4_Missense_Mutation_p.L652P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGATTTTGAGCTTCACCAG	0.413																																						uc001stk.2																			0				ovary(2)	2						c.(1798-1800)CTC>CCC		glutamate receptor interacting protein 1							138.0	127.0	131.0					12																	66800092		1896	4115	6011	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66800092A>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1799T>C	12.37:g.66800092A>G	ENSP00000381098:p.Leu600Pro					GRIP1_uc010sta.1_Missense_Mutation_p.L544P|GRIP1_uc001stj.2_Missense_Mutation_p.L382P|GRIP1_uc001stl.1_Missense_Mutation_p.L492P|GRIP1_uc001stm.2_Missense_Mutation_p.L600P	p.L600P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	15	2040	-			652			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1799T>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.400111|4.400111	0.83120|0.83120	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31;0.31;0.31|.	5.38|5.38	5.38|5.38	0.77491|0.77491	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88614|0.88614	0.6484|0.6484	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.92840|0.92840	0.6288|0.6288	9|5	.|.	.|.	.|.	-14.0119|-14.0119	15.6925|15.6925	0.77466|0.77466	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600;652;600;652|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	P|P	600;652;652;600;544;492|467	ENSP00000381098:L600P;ENSP00000352780:L652P;ENSP00000286445:L652P;ENSP00000446047:L600P;ENSP00000446024:L544P;ENSP00000446011:L492P|.	.|.	L|S	-|-	2|1	0|0	GRIP1|GRIP1	65086359|65086359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.166000|2.166000	0.68216|0.68216	0.402000|0.402000	0.26972|0.26972	CTC|TCA		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
MED13L	23389	broad.mit.edu	37	12	116446291	116446291	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:116446291C>G	ENST00000281928.3	-	10	2133	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	643						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACTCAGCATCATCACTGGGT	0.517																																						uc001tvw.2																			0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(1927-1929)GAT>CAT		mediator complex subunit 13-like							80.0	66.0	71.0					12																	116446291		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446291C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1927G>C	12.37:g.116446291C>G	ENSP00000281928:p.Asp643His						p.D643H	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1982	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		643					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1927G>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301605	0.40694	.	.	ENSG00000123066	ENST00000281928	T	0.76060	-0.99	5.7	5.7	0.88788	.	0.157869	0.64402	D	0.000011	T	0.64605	0.2613	L	0.29908	0.895	0.42723	D	0.993685	P	0.44578	0.838	B	0.42422	0.387	T	0.68864	-0.5296	10	0.66056	D	0.02	.	10.2853	0.43564	0.0:0.854:0.0:0.146	.	643	Q71F56	MD13L_HUMAN	H	643	ENSP00000281928:D643H	ENSP00000281928:D643H	D	-	1	0	MED13L	114930674	0.966000	0.33281	0.999000	0.59377	0.992000	0.81027	2.166000	0.42406	2.703000	0.92315	0.655000	0.94253	GAT		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
MPHOSPH9	10198	broad.mit.edu	37	12	123687854	123687854	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:123687854G>A	ENST00000606320.1	-	9	1469	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MPHOSPH9_ENST00000392425.3_Silent_p.N269N|MPHOSPH9_ENST00000541076.2_Silent_p.N391N|MPHOSPH9_ENST00000302349.5_Silent_p.N269N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	421						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAACTGCTTGTTTTCCCTTT	0.373																																						uc001uel.2																			0					0						c.(805-807)AAC>AAT		M-phase phosphoprotein 9							199.0	206.0	204.0					12																	123687854		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687854G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1263C>T	12.37:g.123687854G>A						MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_5'UTR	p.N269N	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		269					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.807C>T		.	.	.	.	.	.	.	.	.	.	G	7.917	0.737695	0.15574	.	.	ENSG00000257076	ENST00000539336	.	.	.	6.16	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.907	12.4149	0.55488	0.0674:0.2238:0.7088:0.0	.	.	.	.	X	279	.	.	Q	-	1	0	RP11-546D6.2	122253807	0.982000	0.34865	0.994000	0.49952	0.996000	0.88848	1.102000	0.31050	0.878000	0.35920	0.650000	0.86243	CAA		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
TGM1	7051	broad.mit.edu	37	14	24730965	24730965	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:24730965A>G	ENST00000206765.6	-	3	567	c.444T>C	c.(442-444)caT>caC	p.H148H	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	148					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGGAGCATATGGAAAGGCT	0.592																																						uc001wod.2																			0				central_nervous_system(2)|ovary(1)	3						c.(442-444)CAT>CAC		transglutaminase 1	L-Glutamine(DB00130)						132.0	117.0	122.0					14																	24730965		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24730965A>G	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.444T>C	14.37:g.24730965A>G						TGM1_uc010tog.1_Intron	p.H148H	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	568	-			148					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.444T>C	CCDS9622.1																																																																																				0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
SRP54	6729	broad.mit.edu	37	14	35465958	35465958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:35465958C>T	ENST00000556994.1	+	3	440	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SRP54_ENST00000216774.6_Missense_Mutation_p.R15C|SRP54_ENST00000555557.1_5'UTR|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000546080.1_5'UTR			P61011	SRP54_HUMAN	signal recognition particle 54kDa	15	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATCAGCATTACGCTCGTTGAG	0.343																																						uc001wso.2																			0				ovary(1)	1						c.(43-45)CGC>TGC		signal recognition particle 54kDa isoform 1							116.0	122.0	120.0					14																	35465958		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35465958C>T	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.43C>T	14.37:g.35465958C>T	ENSP00000451818:p.Arg15Cys					SRP54_uc010tpp.1_Translation_Start_Site|SRP54_uc010tpq.1_Intron	p.R15C	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	2	394	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		15			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.43C>T	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285728	0.59867	.	.	ENSG00000100883	ENST00000556994;ENST00000554803;ENST00000555746;ENST00000216774	.	.	.	6.17	5.29	0.74685	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	P	0.61477	0.889	D	0.87676	0.2544	9	0.72032	D	0.01	-3.3307	15.0983	0.72253	0.0:0.9322:0.0:0.0678	.	15	P61011	SRP54_HUMAN	C	15	.	ENSP00000216774:R15C	R	+	1	0	SRP54	34535709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.198000	0.58419	1.633000	0.50488	0.655000	0.94253	CGC		0.343	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
C14orf37	145407	broad.mit.edu	37	14	58471770	58471770	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:58471770C>G	ENST00000267485.7	-	7	2446	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	751						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCATACCTTTCTTTTATGCCT	0.413																																						uc001xdc.2																			0					0						c.(2251-2253)AGA>ACA		hypothetical protein LOC145407 precursor							163.0	147.0	153.0					14																	58471770		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58471770C>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2252G>C	14.37:g.58471770C>G	ENSP00000267485:p.Arg751Thr					C14orf37_uc010tro.1_Missense_Mutation_p.R789T|C14orf37_uc001xdd.2_Missense_Mutation_p.R751T	p.R751T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			7	2363	-			751			Cytoplasmic (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.2252G>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924943	0.73213	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.47177	0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.58101	1.795	0.46149	D	0.998895	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67787	-0.5580	10	0.87932	D	0	-14.815	19.3848	0.94553	0.0:1.0:0.0:0.0	.	789;751;751	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	T	751;789	ENSP00000267485:R751T	ENSP00000267485:R751T	R	-	2	0	C14orf37	57541523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.050000	0.64251	2.829000	0.97493	0.655000	0.94253	AGA		0.413	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
GABRB3	2562	broad.mit.edu	37	15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:26825568G>A	ENST00000311550.5	-	6	691	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GABRB3_ENST00000545868.1_Nonsense_Mutation_p.R109*|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.R250*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.R123*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.R194*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	194					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCCCGCCTCGCCAGTAAAAC	0.517																																						uc001zaz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(580-582)CGA>TGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						103.0	87.0	92.0					15																	26825568		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825568G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.580C>T	15.37:g.26825568G>A	ENSP00000308725:p.Arg194*					GABRB3_uc010uae.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zba.2_Nonsense_Mutation_p.R194*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.R250*	p.R194*	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	722	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	194			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.580C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	37	6.181066	0.97352	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	.	.	.	5.12	3.05	0.35203	.	0.170915	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.6494	0.62301	0.0:0.0:0.6481:0.3519	.	.	.	.	X	194;250;194;123;109;109	.	ENSP00000299267:R194X	R	-	1	2	GABRB3	24376661	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.907000	0.39897	1.220000	0.43490	0.561000	0.74099	CGA		0.517	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
PCSK6	5046	broad.mit.edu	37	15	101924538	101924538	+	Missense_Mutation	SNP	G	G	A	rs376876626		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:101924538G>A	ENST00000348070.1	-	11	1399	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	PCSK6_ENST00000358417.3_Missense_Mutation_p.A467V|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.A467V|PCSK6_ENST00000331826.7_Missense_Mutation_p.A302V|PCSK6_ENST00000344273.2_Missense_Mutation_p.A467V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	468	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATGACCCGCGCCGTTCAC	0.567																																						uc002bwy.2																			0				pancreas(2)	2						c.(1402-1404)GCG>GTG		paired basic amino acid cleaving system 4		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,3977		0,1,1988	47.0	48.0	47.0		1401,1401,1401,1401,1401,1401,1401,1401	6.1	0.2	15		47	0,8316		0,0,4158	no	missense,missense,missense,missense,missense,missense,missense,missense	PCSK6	NM_002570.3,NM_138319.2,NM_138320.1,NM_138321.1,NM_138322.2,NM_138323.1,NM_138324.1,NM_138325.2	64,64,64,64,64,64,64,64	0,1,6146	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	468/970,468/957,468/976,468/963,468/488,468/624,468/653,468/665	101924538	1,12293	1989	4158	6147	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101924538G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1400C>T	15.37:g.101924538G>A	ENSP00000305056:p.Ala467Val					PCSK6_uc010bpd.2_Intron|PCSK6_uc010bpe.2_Missense_Mutation_p.A468V|PCSK6_uc002bxa.2_Missense_Mutation_p.A468V|PCSK6_uc002bxb.2_Missense_Mutation_p.A468V|PCSK6_uc002bxc.1_Missense_Mutation_p.A468V|PCSK6_uc002bxd.1_Missense_Mutation_p.A468V|PCSK6_uc002bxe.2_Missense_Mutation_p.A468V|PCSK6_uc002bxg.1_Missense_Mutation_p.A468V|PCSK6_uc002bxf.1_5'Flank	p.A468V	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1717	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		468					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1403C>T		.	.	.	.	.	.	.	.	.	.	G	12.85	2.061195	0.36373	2.51E-4	0.0	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	6.08	6.08	0.98989	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	N	0.13043	0.29	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.71674	0.998;0.995;0.983;0.961;0.986;0.99;0.994;0.995	D;P;P;P;P;P;P;D	0.65140	0.925;0.692;0.66;0.771;0.771;0.65;0.566;0.932	T	0.71144	-0.4678	10	0.02654	T	1	-21.5723	19.6516	0.95815	0.0:0.0:1.0:0.0	.	468;467;468;467;467;468;468;467	P29122;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.	V	467;467;467;467;302	ENSP00000305056:A467V;ENSP00000351193:A467V;ENSP00000344410:A467V;ENSP00000381243:A467V;ENSP00000332052:A302V	ENSP00000332052:A302V	A	-	2	0	PCSK6	99742061	1.000000	0.71417	0.234000	0.24042	0.260000	0.26232	3.793000	0.55484	2.894000	0.99253	0.655000	0.94253	GCG		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
GLYR1	84656	broad.mit.edu	37	16	4863830	4863830	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:4863830C>T	ENST00000321919.9	-	12	1103	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	GLYR1_ENST00000591451.1_Missense_Mutation_p.G337S|GLYR1_ENST00000436648.5_Missense_Mutation_p.G262S|GLYR1_ENST00000381983.3_Missense_Mutation_p.G326S	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	343					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCACTGGGGCCCAGCACCAGC	0.612																																						uc002cxx.3																			0					0						c.(1027-1029)GGC>AGC		cytokine-like nuclear factor n-pac							54.0	43.0	46.0					16																	4863830		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4863830C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1027G>A	16.37:g.4863830C>T	ENSP00000322716:p.Gly343Ser					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	p.G343S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			12	1064	-			343					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.1027G>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828849	0.96996	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.72835	-0.38;-0.37;-0.69	5.37	5.37	0.77165	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	M	0.77103	2.36	0.80722	D	1	P;D;P;D	0.89917	0.764;0.97;0.764;1.0	P;D;P;D	0.97110	0.759;0.91;0.581;1.0	D	0.86369	0.1722	10	0.87932	D	0	-19.1931	18.2373	0.89954	0.0:1.0:0.0:0.0	.	262;337;326;343	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	S	343;326;262	ENSP00000322716:G343S;ENSP00000371413:G326S;ENSP00000390276:G262S	ENSP00000322716:G343S	G	-	1	0	GLYR1	4803831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.667000	0.90743	0.655000	0.94253	GGC		0.612	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	
ATF7IP2	80063	broad.mit.edu	37	16	10524533	10524533	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:10524533C>T	ENST00000396560.2	+	3	283	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P19L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P19L|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P19L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AAGACAATGCCCCTAAGTTGC	0.383																																						uc002czu.2																			0					0						c.(55-57)CCC>CTC		activating transcription factor 7 interacting							78.0	75.0	76.0					16																	10524533		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524533C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.56C>T	16.37:g.10524533C>T	ENSP00000379808:p.Pro19Leu					ATF7IP2_uc002czv.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.P19L|ATF7IP2_uc010uyq.1_RNA	p.P19L	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			3	283	+			19					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.56C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306373	0.60305	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.60424	0.19;0.19	5.25	4.29	0.51040	.	0.000000	0.48767	D	0.000167	T	0.68274	0.2983	L	0.47716	1.5	0.40442	D	0.980058	D;D	0.89917	1.0;1.0	D;D	0.97110	0.979;1.0	T	0.71504	-0.4573	10	0.87932	D	0	-6.5144	11.8134	0.52195	0.0:0.8229:0.1771:0.0	.	19;19	Q5U623-2;Q5U623	.;MCAF2_HUMAN	L	19	ENSP00000379808:P19L;ENSP00000348799:P19L	ENSP00000322811:P19L	P	+	2	0	ATF7IP2	10432034	0.997000	0.39634	0.889000	0.34880	0.624000	0.37722	3.819000	0.55686	1.185000	0.42971	0.467000	0.42956	CCC		0.383	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
UMOD	7369	broad.mit.edu	37	16	20359594	20359594	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:20359594C>T	ENST00000570689.1	-	4	1070	c.924G>A	c.(922-924)tcG>tcA	p.S308S	UMOD_ENST00000396142.2_Silent_p.S308S|UMOD_ENST00000302509.4_Silent_p.S308S|UMOD_ENST00000424589.1_Silent_p.S341S|UMOD_ENST00000396134.2_Silent_p.S341S|UMOD_ENST00000396138.4_Silent_p.S357S			P07911	UROM_HUMAN	uromodulin	308					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552																																						uc002dgz.2																			0				ovary(1)|skin(1)	2						c.(922-924)TCG>TCA		uromodulin precursor							231.0	204.0	213.0					16																	20359594		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20359594C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.924G>A	16.37:g.20359594C>T						UMOD_uc002dha.2_Silent_p.S308S|UMOD_uc002dhb.2_Silent_p.S341S	p.S308S	NM_003361	NP_003352	P07911	UROM_HUMAN			4	1053	-			308					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.924G>A	CCDS10583.1																																																																																				0.552	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
SLC7A5P1	81893	broad.mit.edu	37	16	29624638	29624638	+	IGR	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:29624638G>A								MIR3680-2 (14052 upstream) : SPN (49661 downstream)																							TGGAGATGGTGGTGCCCAGCT	0.672																																						uc002dtl.1																			0					0						c.(322-324)ACC>ACT		RecName: Full=Putative L-type amino acid transporter 1-like protein MMAA; AltName: Full=hLAT1 3-transmembrane protein MMAA;          Short=hLAT1 3TM MMAA;																																				SO:0001628	intergenic_variant	81893							g.chr16:29624638G>A																													16.37:g.29624638G>A						LOC440354_uc002dsp.3_RNA|uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.T108T	NR_002593						1	401	-									Silent	SNP		37	c.324C>T																																																																																				0	0.672								
ITGAX	3687	broad.mit.edu	37	16	31373991	31373991	+	Missense_Mutation	SNP	C	C	T	rs201384441		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:31373991C>T	ENST00000268296.4	+	12	1397	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	ITGAX_ENST00000562522.1_Missense_Mutation_p.R426C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	426					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		10122	0.001		0.0	False		,,,				2504	0.0					uc002ebu.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1276-1278)CGC>TGC		integrin alpha X precursor		C	CYS/ARG	0,4394		0,0,2197	26.0	27.0	26.0		1276	3.9	1.0	16		26	1,8599		0,1,4299	no	missense	ITGAX	NM_000887.3	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/1164	31373991	1,12993	2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373991C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1276C>T	16.37:g.31373991C>T	ENSP00000268296:p.Arg426Cys					ITGAX_uc002ebt.2_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	p.R426C	NM_000887	NP_000878	P20702	ITAX_HUMAN			12	1343	+			426			FG-GAP 4.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1276C>T	CCDS10711.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	23.0	4.364361	0.82463	0.0	1.16E-4	ENSG00000140678	ENST00000268296	T	0.41758	0.99	3.91	3.91	0.45181	.	.	.	.	.	T	0.76004	0.3927	H	0.97983	4.12	0.45883	D	0.998735	D	0.89917	1.0	D	0.91635	0.999	D	0.85085	0.0948	9	0.87932	D	0	.	13.281	0.60214	0.0:1.0:0.0:0.0	.	426	P20702	ITAX_HUMAN	C	426	ENSP00000268296:R426C	ENSP00000268296:R426C	R	+	1	0	ITGAX	31281492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.567000	0.53813	1.912000	0.55364	0.448000	0.29417	CGC		0.657	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
MYO15A	51168	broad.mit.edu	37	17	18055238	18055238	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18055238C>T	ENST00000205890.5	+	41	8204	c.7866C>T	c.(7864-7866)acC>acT	p.T2622T	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2622	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCAGATGACCCACCTGGCAG	0.602																																						uc010vxh.1																			0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(7864-7866)ACC>ACT		myosin XV							31.0	34.0	33.0					17																	18055238		1945	4133	6078	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055238C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7866C>T	17.37:g.18055238C>T						MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	p.T2622T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			40	8204	+	all_neural(463;0.228)		2622			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.7866C>T	CCDS42271.1																																																																																				0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
LLGL1	3996	broad.mit.edu	37	17	18138556	18138556	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18138556C>G	ENST00000316843.4	+	10	1310	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	405					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCAGTGTCCCCGCCAAGCTG	0.672																																						uc002gsp.2																			0				breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1213-1215)CCC>CGC		lethal giant larvae homolog 1							19.0	21.0	20.0					17																	18138556		2201	4295	6496	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138556C>G		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1214C>G	17.37:g.18138556C>G	ENSP00000321537:p.Pro405Arg						p.P405R	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			10	1275	+	all_neural(463;0.228)		405			WD 8.		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1214C>G	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885324	0.72410	.	.	ENSG00000131899	ENST00000316843	T	0.06687	3.27	6.02	6.02	0.97574	WD40 repeat-like-containing domain (1);	0.199129	0.53938	D	0.000048	T	0.30634	0.0771	M	0.86805	2.84	0.58432	D	0.999997	D	0.59357	0.985	P	0.55222	0.771	T	0.02917	-1.1094	10	0.66056	D	0.02	-24.828	19.3726	0.94495	0.0:1.0:0.0:0.0	.	405	Q15334	L2GL1_HUMAN	R	405	ENSP00000321537:P405R	ENSP00000321537:P405R	P	+	2	0	LLGL1	18079281	1.000000	0.71417	0.962000	0.40283	0.188000	0.23474	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CCC		0.672	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3		
KCNJ12	3768	broad.mit.edu	37	17	21319068	21319068	+	Silent	SNP	C	C	T	rs371084705	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:21319068C>T	ENST00000583088.1	+	3	1309	c.414C>T	c.(412-414)atC>atT	p.I138I	KCNJ12_ENST00000331718.5_Silent_p.I138I	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	138					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCTTCTCCATCGAGACGCAGA	0.672										Prostate(3;0.18)			.|||	3	0.000599042	0.0023	0.0	5008	,	,		35669	0.0		0.0	False		,,,				2504	0.0					uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(412-414)ATC>ATT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	C		2,4404		0,2,2201	43.0	41.0	42.0		414	-6.3	0.9	17		42	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		138/434	21319068	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319068C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.414C>T	17.37:g.21319068C>T		Prostate(3;0.18)					p.I138I	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1119	+			138					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.414C>T	CCDS11219.1																																																																																				0.672	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
ASIC2	40	broad.mit.edu	37	17	31352958	31352958	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:31352958G>A	ENST00000359872.6	-	5	1789	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.A394V	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	343					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GGCAGGCTCTGCACACTCCTT	0.532																																						uc002hhu.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1027-1029)GCA>GTA		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						87.0	69.0	75.0					17																	31352958		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31352958G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1028C>T	17.37:g.31352958G>A	ENSP00000352934:p.Ala343Val					ACCN1_uc002hht.2_Missense_Mutation_p.A394V	p.A343V	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	5	1302	-		Breast(31;0.042)|Ovarian(249;0.202)	343			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1028C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713338	0.89112	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.63913	-0.07;-0.07	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.78314	0.991;0.891	T	0.62586	-0.6823	10	0.16896	T	0.51	-1.2745	16.4308	0.83841	0.0:0.0:1.0:0.0	.	343;394	Q16515;E9PBX2	ACCN1_HUMAN;.	V	394;343;149	ENSP00000225823:A394V;ENSP00000352934:A343V	ENSP00000225823:A394V	A	-	2	0	ACCN1	28377071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.703000	0.98714	2.541000	0.85698	0.555000	0.69702	GCA		0.532	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
GAS2L2	246176	broad.mit.edu	37	17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A	rs369252885		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34074081G>A	ENST00000254466.6	-	5	1066	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R331W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	347					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)		CCTGCTCCCCGTTCCCTGCGG	0.612																																						uc002hjv.1																			0				ovary(1)|skin(1)	2						c.(1039-1041)CGG>TGG		growth arrest-specific 2 like 2		G	TRP/ARG	1,4405		0,1,2202	29.0	34.0	32.0		1039	-4.9	0.0	17		32	0,8596		0,0,4298	no	missense	GAS2L2	NM_139285.3	101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	347/881	34074081	1,13001	2203	4298	6501	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074081G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1039C>T	17.37:g.34074081G>A	ENSP00000254466:p.Arg347Trp						p.R347W	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1067	-		Ovarian(249;0.17)	347					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1039C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943345	0.18281	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.19394	2.15	4.59	-4.89	0.03103	.	2.211840	0.01653	N	0.024643	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.37606	T	0.19	1.1167	0.8797	0.01231	0.327:0.1142:0.3268:0.2321	.	347	Q8NHY3	GA2L2_HUMAN	W	347	ENSP00000254466:R347W	ENSP00000254466:R347W	R	-	1	2	GAS2L2	31098194	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.326000	0.07965	-0.698000	0.05085	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
TAF15	8148	broad.mit.edu	37	17	34151174	34151174	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34151174G>T	ENST00000588240.1	+	7	692	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	TAF15_ENST00000592237.1_Missense_Mutation_p.D102Y|AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.D190Y|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATGACAAGGATGGAAGAGG	0.428			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	uc002hkd.2				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	TAF15/NR4A3(33)	0				bone(33)|lung(1)|skin(1)	35						c.(577-579)GAT>TAT		TBP-associated factor 15 isoform 1							153.0	136.0	141.0					17																	34151174		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34151174G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.577G>T	17.37:g.34151174G>T	ENSP00000466950:p.Asp193Tyr					TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.D190Y	p.D193Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	663	+		Ovarian(249;0.17)	193			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.577G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471058	0.84533	.	.	ENSG00000172660	ENST00000311979	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	T	0.75102	0.3804	L	0.51422	1.61	0.48762	D	0.999704	D;D	0.71674	0.997;0.998	D;D	0.70935	0.936;0.971	T	0.73467	-0.3973	8	0.51188	T	0.08	-14.6365	18.1147	0.89549	0.0:0.0:1.0:0.0	.	193;190	Q92804;Q92804-2	RBP56_HUMAN;.	Y	193	.	ENSP00000309558:D193Y	D	+	1	0	TAF15	31175287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.882000	0.98803	0.655000	0.94253	GAT		0.428	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215	
KCNH6	81033	broad.mit.edu	37	17	61607575	61607575	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:61607575T>C	ENST00000583023.1	+	3	442	c.431T>C	c.(430-432)tTg>tCg	p.L144S	KCNH6_ENST00000581784.1_Missense_Mutation_p.L144S|KCNH6_ENST00000456941.2_Missense_Mutation_p.L144S|KCNH6_ENST00000314672.5_Missense_Mutation_p.L144S|KCNH6_ENST00000580652.1_Missense_Mutation_p.L144S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	144	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGCCGCAGCTTGTCCCAGCGC	0.642																																						uc002jay.2																			0				skin(1)	1						c.(430-432)TTG>TCG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						60.0	57.0	58.0					17																	61607575		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607575T>C	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.431T>C	17.37:g.61607575T>C	ENSP00000463533:p.Leu144Ser					KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.1_Missense_Mutation_p.L21S|KCNH6_uc010wpm.1_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	p.L144S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			3	511	+			144			PAC.|Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.431T>C	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.617189	0.28801	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99311	-5.18;-5.73	4.58	4.58	0.56647	.	0.152147	0.29451	N	0.012118	D	0.98005	0.9343	N	0.22421	0.69	0.33076	D	0.535999	D;B;D;P;B	0.62365	0.958;0.349;0.991;0.932;0.187	P;B;P;B;B	0.60682	0.549;0.092;0.878;0.387;0.058	D	0.96864	0.9634	10	0.05833	T	0.94	.	13.7796	0.63075	0.0:0.0:0.0:1.0	.	21;144;144;144;144	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	S	144	ENSP00000318212:L144S;ENSP00000396900:L144S	ENSP00000318212:L144S	L	+	2	0	KCNH6	58961307	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.687000	0.54692	1.928000	0.55862	0.459000	0.35465	TTG		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
THOC1	9984	broad.mit.edu	37	18	247872	247874	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:247872_247874delTCT	ENST00000261600.6	-	10	768_770	c.761_763delAGA	c.(760-765)aagatt>att	p.K254del	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	254					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCCATGAAATCTTCTCATAGCA	0.35																																						uc002kkj.3																			0				ovary(1)	1						c.(760-765)AAGATT>ATT		THO complex 1																																				SO:0001651	inframe_deletion	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:247872_247874delTCT	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.761_763delAGA	18.37:g.247875_247877delTCT	ENSP00000261600:p.Lys254del					THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_In_Frame_Del_p.K254del	p.K254del	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			10	801_803	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	254					B2RBP6|Q15219|Q64I72|Q64I73	In_Frame_Del	DEL	ENST00000261600.6	37	c.761_763delAGA	CCDS45820.1																																																																																				0.350	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
TRAPPC8	22878	broad.mit.edu	37	18	29496353	29496353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:29496353delA	ENST00000283351.4	-	4	834	c.499delT	c.(499-501)tcafs	p.S167fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.S167fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.S113fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	167					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTCTTGTGACAACTTTGAA	0.348																																						uc002kxc.3																			0					0						c.(499-501)TCAfs		hypothetical protein LOC22878							133.0	110.0	118.0					18																	29496353		2203	4300	6503	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29496353delA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.499delT	18.37:g.29496353delA	ENSP00000283351:p.Ser167fs					KIAA1012_uc002kxb.3_Frame_Shift_Del_p.S113fs|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Frame_Shift_Del_p.S167fs	p.S167fs	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			4	863	-			167					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.499delT	CCDS11901.1																																																																																				0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
PSTPIP2	9050	broad.mit.edu	37	18	43572096	43572096	+	Missense_Mutation	SNP	G	G	A	rs371604789		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:43572096G>A	ENST00000409746.5	-	11	885	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RN7SKP26_ENST00000410247.1_RNA|PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	272						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCAGTTTTGCGTTGATTCACA	0.388																																						uc002lbp.3																			0				ovary(1)	1						c.(814-816)CGC>TGC		proline-serine-threonine phosphatase interacting		G	CYS/ARG	1,3135		0,1,1567	79.0	76.0	77.0		814	5.5	1.0	18		77	1,7163		0,1,3581	no	missense	PSTPIP2	NM_024430.3	180	0,2,5148	AA,AG,GG		0.014,0.0319,0.0194	probably-damaging	272/335	43572096	2,10298	1568	3582	5150	SO:0001583	missense	9050					membrane		g.chr18:43572096G>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.814C>T	18.37:g.43572096G>A	ENSP00000387261:p.Arg272Cys					PSTPIP2_uc002lbq.3_Intron	p.R272C	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			11	910	-			272						Missense_Mutation	SNP	ENST00000409746.5	37	c.814C>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849676	0.91277	3.19E-4	1.4E-4	ENSG00000152229	ENST00000409746	T	0.43688	0.94	5.51	5.51	0.81932	.	0.112192	0.64402	D	0.000016	T	0.61912	0.2385	M	0.78456	2.415	0.42100	D	0.991332	D	0.76494	0.999	P	0.56343	0.796	T	0.64833	-0.6314	10	0.54805	T	0.06	.	18.6203	0.91318	0.0:0.0:1.0:0.0	.	272	Q9H939	PPIP2_HUMAN	C	272	ENSP00000387261:R272C	ENSP00000387261:R272C	R	-	1	0	PSTPIP2	41826094	0.681000	0.27614	0.951000	0.38953	0.951000	0.60555	3.514000	0.53422	2.769000	0.95229	0.579000	0.79373	CGC		0.388	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1		
DENND1C	79958	broad.mit.edu	37	19	6477231	6477231	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:6477231G>C	ENST00000381480.2	-	8	623	c.511C>G	c.(511-513)Ccg>Gcg	p.P171A	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.P127A	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	171	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCGCTCACCGGCTTGCTATTC	0.667																																						uc002mfe.2																			0				large_intestine(1)	1						c.(511-513)CCG>GCG		DENN/MADD domain containing 1C							19.0	25.0	23.0					19																	6477231		1911	4101	6012	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477231G>C	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.511C>G	19.37:g.6477231G>C	ENSP00000370889:p.Pro171Ala					DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.P127A	p.P171A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			8	603	-			171			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.511C>G	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	g	7.279	0.608632	0.14002	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.10668	2.85;2.85	4.34	1.81	0.25067	DENN (3);	1.160310	0.06935	U	0.811728	T	0.07503	0.0189	L	0.33245	0.995	0.09310	N	1	B	0.18310	0.027	B	0.17979	0.02	T	0.43750	-0.9372	10	0.10377	T	0.69	-1.756	4.3261	0.11041	0.1203:0.0:0.5988:0.281	.	171	Q8IV53	DEN1C_HUMAN	A	171;127	ENSP00000370889:P171A;ENSP00000437805:P127A	ENSP00000370889:P171A	P	-	1	0	DENND1C	6428231	0.819000	0.29175	0.358000	0.25811	0.120000	0.20174	0.897000	0.28390	0.957000	0.37930	0.543000	0.68304	CCG		0.667	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
MUC16	94025	broad.mit.edu	37	19	8997532	8997532	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:8997532G>A	ENST00000397910.4	-	59	41093	c.40890C>T	c.(40888-40890)gcC>gcT	p.A13630A	MUC16_ENST00000380951.5_Silent_p.A271A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13632				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGCTGGCAGCTGTCG	0.468																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40888-40890)GCC>GCT		mucin 16							137.0	110.0	119.0					19																	8997532		1951	4177	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997532G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40890C>T	19.37:g.8997532G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.A447A|MUC16_uc010xki.1_RNA	p.A13630A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			59	41094	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40890C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.792	-0.479308	0.04383	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.77	-5.53	0.02552	.	.	.	.	.	T	0.33498	0.0865	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32241	-0.9914	3	.	.	.	-0.0872	6.538	0.22365	0.4839:0.0:0.3835:0.1326	.	.	.	.	L	470	.	.	P	-	2	0	MUC16	8858532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.410000	0.00238	-5.416000	0.00015	-1.189000	0.01698	CCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FBXL12	54850	broad.mit.edu	37	19	9922084	9922084	+	Missense_Mutation	SNP	C	C	T	rs61753275		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:9922084C>T	ENST00000247977.4	-	3	710	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.V104M|FBXL12_ENST00000591009.1_Missense_Mutation_p.V104M|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	157					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTCCAGCACGATGCATTCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15237	0.001		0.0	False		,,,				2504	0.0					uc002mme.2																			0				lung(1)|kidney(1)	2						c.(469-471)GTG>ATG		F-box and leucine-rich repeat protein 12		C	MET/VAL	0,4406	2.1+/-5.4	0,0,2203	45.0	46.0	45.0		469	2.6	0.9	19	dbSNP_129	45	6,8592	5.0+/-18.6	0,6,4293	yes	missense	FBXL12	NM_017703.1	21	0,6,6496	TT,TC,CC		0.0698,0.0,0.0461	possibly-damaging	157/327	9922084	6,12998	2203	4299	6502	SO:0001583	missense	54850						protein binding	g.chr19:9922084C>T	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.469G>A	19.37:g.9922084C>T	ENSP00000247977:p.Val157Met					FBXL12_uc002mmd.2_Missense_Mutation_p.V104M|FBXL12_uc002mmf.2_Missense_Mutation_p.V104M|FBXL12_uc002mmg.2_Missense_Mutation_p.V104M|FBXL12_uc002mmh.2_Missense_Mutation_p.V104M	p.V157M	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN			3	711	-			157					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.469G>A	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120847	0.56613	0.0	6.98E-4	ENSG00000127452	ENST00000247977	T	0.17370	2.28	4.76	2.58	0.30949	.	0.274687	0.29653	N	0.011546	T	0.15435	0.0372	N	0.19112	0.55	0.58432	D	0.999999	D	0.71674	0.998	P	0.54346	0.749	T	0.04400	-1.0954	9	.	.	.	.	7.5129	0.27583	0.0:0.8002:0.0:0.1998	rs61753275	157	Q9NXK8	FXL12_HUMAN	M	157	ENSP00000247977:V157M	.	V	-	1	0	FBXL12	9783084	0.259000	0.24043	0.874000	0.34290	0.941000	0.58515	0.360000	0.20250	1.233000	0.43693	0.655000	0.94253	GTG		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						uc002mtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)CGT>CCT		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_uc010dym.1_Missense_Mutation_p.R290P	p.R447P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1483	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
B3GNT3	10331	broad.mit.edu	37	19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17919127G>A	ENST00000318683.6	+	2	658	c.511G>A	c.(511-513)Gga>Aga	p.G171R	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G171R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	171					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACAGACTCACGGAGACATCCT	0.637																																						uc002nhk.1																			0				upper_aerodigestive_tract(1)	1						c.(511-513)GGA>AGA		UDP-GlcNAc:betaGal							44.0	42.0	43.0					19																	17919127		2203	4299	6502	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919127G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.511G>A	19.37:g.17919127G>A	ENSP00000321874:p.Gly171Arg					B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	596	+			171			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.511G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672086	0.14776	.	.	ENSG00000179913	ENST00000318683	T	0.50548	0.74	3.92	1.7	0.24286	.	0.318671	0.32987	U	0.005406	T	0.35068	0.0919	L	0.41124	1.26	0.09310	N	0.999997	P	0.41345	0.746	B	0.40375	0.327	T	0.13926	-1.0491	10	0.39692	T	0.17	.	7.0395	0.25013	0.1022:0.1744:0.7234:0.0	.	171	Q9Y2A9	B3GN3_HUMAN	R	171	ENSP00000321874:G171R	ENSP00000321874:G171R	G	+	1	0	B3GNT3	17780127	0.013000	0.17824	0.001000	0.08648	0.219000	0.24729	0.871000	0.28023	0.154000	0.19237	-0.772000	0.03388	GGA		0.637	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256	
SLC5A5	6528	broad.mit.edu	37	19	17986765	17986765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17986765G>A	ENST00000222248.3	+	5	895	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	183					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						CTGCAGGGCGGCATGAAGGCT	0.612																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(547-549)GGC>GAC		solute carrier family 5 (sodium iodide							277.0	200.0	226.0					19																	17986765		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.chr19:17986765G>A		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.548G>A	19.37:g.17986765G>A	ENSP00000222248:p.Gly183Asp						p.G183D	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			5	895	+			183			Helical; (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.548G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419001	0.83559	.	.	ENSG00000105641	ENST00000222248	D	0.97888	-4.59	5.0	5.0	0.66597	Sodium/solute symporter, conserved site (1);	0.054065	0.64402	D	0.000001	D	0.99272	0.9746	H	0.98525	4.255	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98600	1.0658	10	0.87932	D	0	.	16.1536	0.81640	0.0:0.0:1.0:0.0	.	183	Q92911	SC5A5_HUMAN	D	183	ENSP00000222248:G183D	ENSP00000222248:G183D	G	+	2	0	SLC5A5	17847765	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.646000	0.98474	2.515000	0.84797	0.491000	0.48974	GGC		0.612	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
FAM187B	148109	broad.mit.edu	37	19	35718991	35718991	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:35718991A>C	ENST00000324675.3	-	1	641	c.593T>G	c.(592-594)gTg>gGg	p.V198G		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	198						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGCTTCCACCTGCAGCTC	0.542																																						uc002nyk.1																			0				ovary(2)	2						c.(592-594)GTG>GGG		family with sequence similarity 187, member B							73.0	63.0	67.0					19																	35718991		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35718991A>C	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.593T>G	19.37:g.35718991A>C	ENSP00000323355:p.Val198Gly						p.V198G	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	638	-			198			Extracellular (Potential).		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.593T>G	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335914	0.41398	.	.	ENSG00000177558	ENST00000324675	T	0.27256	1.68	5.07	5.07	0.68467	.	1.208890	0.06144	N	0.672982	T	0.48589	0.1508	L	0.57536	1.79	0.49798	D	0.999826	D	0.76494	0.999	D	0.65010	0.931	T	0.05699	-1.0869	10	0.87932	D	0	-12.232	11.5204	0.50546	1.0:0.0:0.0:0.0	.	198	Q17R55	F187B_HUMAN	G	198	ENSP00000323355:V198G	ENSP00000323355:V198G	V	-	2	0	FAM187B	40410831	0.357000	0.24938	0.580000	0.28601	0.030000	0.12068	4.438000	0.59961	2.033000	0.60031	0.533000	0.62120	GTG		0.542	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481	
SYMPK	8189	broad.mit.edu	37	19	46338456	46338456	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:46338456C>T	ENST00000245934.7	-	11	1517	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	425					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCTGGCATGGCCTCGGGTAGG	0.572																																						uc002pdn.2																			0				ovary(1)	1						c.(1273-1275)GCC>ACC		symplekin							82.0	76.0	78.0					19																	46338456		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46338456C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1273G>A	19.37:g.46338456C>T	ENSP00000245934:p.Ala425Thr					SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.1_Missense_Mutation_p.A425T	p.A425T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	11	1518	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	425					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1273G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682775	0.14907	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.86	0.194	0.15143	Armadillo-type fold (1);	0.365415	0.27206	N	0.020437	T	0.06690	0.0171	N	0.01048	-1.04	0.25148	N	0.990441	B;B	0.15141	0.012;0.0	B;B	0.08055	0.003;0.0	T	0.32295	-0.9912	9	0.07990	T	0.79	.	3.6072	0.08046	0.1774:0.3504:0.0:0.4722	.	440;425	Q4LE61;Q92797	.;SYMPK_HUMAN	T	425	.	ENSP00000245934:A425T	A	-	1	0	SYMPK	51030296	0.995000	0.38212	0.987000	0.45799	0.827000	0.46813	0.486000	0.22340	-0.056000	0.13221	-0.236000	0.12185	GCC		0.572	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
FAM83E	54854	broad.mit.edu	37	19	49106813	49106813	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:49106813G>A	ENST00000263266.3	-	4	1303	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	372			R -> H (in dbSNP:rs3745727).							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACATGGAGCGGCTgggccgg	0.692																																						uc002pjn.2																			0				ovary(1)	1						c.(1114-1116)CGC>TGC		hypothetical protein LOC54854							9.0	11.0	10.0					19																	49106813		1780	3933	5713	SO:0001583	missense	54854							g.chr19:49106813G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1114C>T	19.37:g.49106813G>A	ENSP00000263266:p.Arg372Cys						p.R372C	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1179	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	372					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.1114C>T	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008304	0.75046	.	.	ENSG00000105523	ENST00000263266	T	0.10960	2.82	4.45	4.45	0.53987	.	0.262081	0.28166	N	0.016355	T	0.18882	0.0453	L	0.29908	0.895	0.40386	D	0.979494	D	0.89917	1.0	D	0.69654	0.965	T	0.01188	-1.1424	10	0.87932	D	0	-17.6962	10.2418	0.43316	0.0:0.0:0.8016:0.1984	.	372	Q2M2I3	FA83E_HUMAN	C	372	ENSP00000263266:R372C	ENSP00000263266:R372C	R	-	1	0	FAM83E	53798625	0.997000	0.39634	1.000000	0.80357	0.897000	0.52465	1.092000	0.30927	2.217000	0.71921	0.549000	0.68633	CGC		0.692	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	
ZNF845	91664	broad.mit.edu	37	19	53854361	53854361	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:53854361C>A	ENST00000595091.1	+	5	652	c.433C>A	c.(433-435)Cat>Aat	p.H145N	ZNF845_ENST00000458035.1_Missense_Mutation_p.H145N			Q96IR2	ZN845_HUMAN	zinc finger protein 845	145					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAGCTTTCATTCGCATCT	0.428																																						uc010ydv.1																			0					0						c.(433-435)CAT>AAT		zinc finger protein 845							74.0	55.0	60.0					19																	53854361		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854361C>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.433C>A	19.37:g.53854361C>A	ENSP00000470005:p.His145Asn					ZNF845_uc010ydw.1_Missense_Mutation_p.H145N	p.H145N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	550	+			145						Missense_Mutation	SNP	ENST00000595091.1	37	c.433C>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	6.101	0.386908	0.11581	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07114	3.22	1.2	1.2	0.21068	.	.	.	.	.	T	0.06690	0.0171	N	0.11698	0.16	0.09310	N	1	P	0.51449	0.945	P	0.50082	0.63	T	0.41197	-0.9522	9	0.23302	T	0.38	.	7.9339	0.29918	0.0:1.0:0.0:0.0	.	145	Q96IR2	ZN845_HUMAN	N	145	ENSP00000388311:H145N	ENSP00000412086:H145N	H	+	1	0	ZNF845	58546173	0.015000	0.18098	0.009000	0.14445	0.021000	0.10359	0.760000	0.26475	0.960000	0.38005	0.411000	0.27672	CAT		0.428	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2																			2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
CTNNA2	1496	broad.mit.edu	37	2	80874750	80874750	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:80874750T>C	ENST00000402739.4	+	18	2620	c.2615T>C	c.(2614-2616)cTg>cCg	p.L872P	CTNNA2_ENST00000466387.1_Missense_Mutation_p.L824P|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L858P|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L503P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L779P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L824P|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L824P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	872					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTAAAAACCTGATGAATGCT	0.468																																						uc010ysh.1																			0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2614-2616)CTG>CCG		catenin, alpha 2 isoform 1							137.0	134.0	135.0					2																	80874750		1958	4181	6139	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874750T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2615T>C	2.37:g.80874750T>C	ENSP00000384638:p.Leu872Pro					CTNNA2_uc010yse.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.1_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.1_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.1_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.1_Missense_Mutation_p.L153P	p.L872P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			18	2620	+			872					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2615T>C		.	.	.	.	.	.	.	.	.	.	T	20.5	3.999549	0.74818	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.07	6.07	0.98685	.	0.165970	0.40554	N	0.001073	D	0.88058	0.6335	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.90597	0.4541	9	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	456;872;779;824	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	P	824;824;858;872;824;779;503	ENSP00000418191:L824P;ENSP00000419295:L824P;ENSP00000355398:L858P;ENSP00000384638:L872P;ENSP00000444675:L824P;ENSP00000441705:L779P;ENSP00000341500:L503P	.	L	+	2	0	CTNNA2	80728261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTG		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
RGPD4	285190	broad.mit.edu	37	2	108455335	108455335	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:108455335A>T	ENST00000408999.3	+	4	397	c.320A>T	c.(319-321)aAt>aTt	p.N107I	RGPD4_ENST00000354986.4_Missense_Mutation_p.N107I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	107					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGTAAAAATGATGTTACT	0.333																																						uc010ywk.1																			0				skin(2)	2						c.(319-321)AAT>ATT		RANBP2-like and GRIP domain containing 4							82.0	87.0	85.0					2																	108455335		692	1582	2274	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108455335A>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.320A>T	2.37:g.108455335A>T	ENSP00000386810:p.Asn107Ile					RGPD4_uc002tdu.2_5'UTR	p.N107I	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			4	402	+			107					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.320A>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	a	2.873	-0.233589	0.05983	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.37058	1.22;1.22	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.26521	0.0648	L	0.42245	1.32	0.21967	N	0.999443	B	0.25850	0.136	B	0.26202	0.067	T	0.18967	-1.0320	9	0.21014	T	0.42	-32.2227	5.7659	0.18227	0.7613:0.0:0.0:0.2387	.	107	Q7Z3J3	RGPD4_HUMAN	I	107;107;50	ENSP00000347081:N107I;ENSP00000386810:N107I	ENSP00000347081:N107I	N	+	2	0	RGPD4	107821767	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	3.241000	0.51376	1.133000	0.42147	0.136000	0.15936	AAT		0.333	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
SCN9A	6335	broad.mit.edu	37	2	167159653	167159653	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:167159653T>C	ENST00000409435.1	-	6	847	c.848A>G	c.(847-849)aAt>aGt	p.N283S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N284S|SCN9A_ENST00000409672.1_Missense_Mutation_p.N283S|SCN9A_ENST00000375387.4_Missense_Mutation_p.N284S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	283					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATGTTTCATTATTTTCAAG	0.338																																						uc010fpl.2																			0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(847-849)AAT>AGT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						94.0	92.0	93.0					2																	167159653		2108	4282	6390	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167159653T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.848A>G	2.37:g.167159653T>C	ENSP00000386330:p.Asn283Ser					SCN9A_uc002udr.1_Missense_Mutation_p.N154S|SCN9A_uc002uds.1_Missense_Mutation_p.N154S|SCN9A_uc002udt.1_Missense_Mutation_p.N154S	p.N283S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			7	1189	-			283			I.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.848A>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823587	0.50739	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96459	-3.99;-4.02;-4.01;-4.02;-3.92;-3.94	6.07	4.89	0.63831	Ion transport (1);	0.997866	0.08110	N	0.996326	D	0.93220	0.7840	L	0.33137	0.985	0.30255	N	0.793727	B;B;B	0.19445	0.036;0.001;0.002	B;B;B	0.29077	0.098;0.006;0.006	D	0.86662	0.1905	10	0.23891	T	0.37	.	7.9324	0.29909	0.1364:0.0:0.1429:0.7207	.	283;283;284	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	S	283;284;284;283;148;148	ENSP00000386306:N283S;ENSP00000364536:N284S;ENSP00000304748:N284S;ENSP00000386330:N283S;ENSP00000413212:N148S;ENSP00000393141:N148S	ENSP00000304748:N284S	N	-	2	0	SCN9A	166867899	0.997000	0.39634	0.981000	0.43875	0.377000	0.30045	3.816000	0.55658	1.084000	0.41184	0.477000	0.44152	AAT		0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
ZSWIM2	151112	broad.mit.edu	37	2	187713851	187713851	+	Missense_Mutation	SNP	G	G	T	rs34437613		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:187713851G>T	ENST00000295131.2	-	1	46	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	3					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGCCTCGGCGAAGCATGCTG	0.642																																						uc002upu.1																			0				ovary(2)|skin(1)	3						c.(7-9)CGC>AGC		zinc finger, SWIM domain containing 2							25.0	25.0	25.0					2																	187713851		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187713851G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.7C>A	2.37:g.187713851G>T	ENSP00000295131:p.Arg3Ser						p.R3S	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		1	47	-			3					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.7C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811227	0.50527	.	.	ENSG00000163012	ENST00000295131	T	0.27557	1.66	4.77	1.66	0.24008	.	0.425365	0.20119	N	0.098860	T	0.19327	0.0464	L	0.27053	0.805	0.19300	N	0.999972	B	0.17852	0.024	B	0.09377	0.004	T	0.20605	-1.0270	10	0.87932	D	0	-2.4302	7.778	0.29048	0.0:0.3394:0.4858:0.1748	.	3	Q8NEG5	ZSWM2_HUMAN	S	3	ENSP00000295131:R3S	ENSP00000295131:R3S	R	-	1	0	ZSWIM2	187422096	0.275000	0.24201	0.506000	0.27664	0.114000	0.19823	0.665000	0.25083	0.667000	0.31107	0.650000	0.86243	CGC		0.642	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	382						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493																																						uc002uws.3																			0				ovary(1)	1						c.(1144-1146)CGT>CAT		hypothetical protein LOC285172		C	HIS/ARG	0,4406		0,0,2203	102.0	100.0	101.0		1145	5.8	1.0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM126B	NM_173822.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/531	201846441	1,13005	2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846441C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1145G>A	2.37:g.201846441C>T	ENSP00000393667:p.Arg382His					FAM126B_uc002uwu.2_Missense_Mutation_p.R356H|FAM126B_uc002uwv.2_Missense_Mutation_p.R382H	p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1333	-			382					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1145G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927537	0.52759	0.0	1.16E-4	ENSG00000155744	ENST00000418596	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.052330	0.85682	D	0.000000	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.84551	0.0644	10	0.40728	T	0.16	-9.4248	19.9664	0.97271	0.0:1.0:0.0:0.0	.	188;382	B3KUG1;Q8IXS8	.;F126B_HUMAN	H	382	ENSP00000393667:R382H	ENSP00000393667:R382H	R	-	2	0	FAM126B	201554686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.718000	0.92993	0.655000	0.94253	CGT		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
ZDBF2	57683	broad.mit.edu	37	2	207176262	207176262	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:207176262G>A	ENST00000374423.3	+	5	7396	c.7010G>A	c.(7009-7011)cGt>cAt	p.R2337H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2337							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTACAACAACGTGAGAGAATG	0.428																																						uc002vbp.2																			0				ovary(3)	3						c.(7009-7011)CGT>CAT		zinc finger, DBF-type containing 2							47.0	48.0	48.0					2																	207176262		1925	4141	6066	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176262G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.7010G>A	2.37:g.207176262G>A	ENSP00000363545:p.Arg2337His						p.R2337H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7260	+			2337					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.7010G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308326	0.23821	.	.	ENSG00000204186	ENST00000374423	T	0.45276	0.9	4.46	2.58	0.30949	.	.	.	.	.	T	0.26484	0.0647	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.21546	0.035	T	0.14980	-1.0453	9	0.59425	D	0.04	.	8.0491	0.30566	0.1711:0.5123:0.3167:0.0	.	2337	Q9HCK1	ZDBF2_HUMAN	H	2337	ENSP00000363545:R2337H	ENSP00000363545:R2337H	R	+	2	0	ZDBF2	206884507	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.103000	0.15292	0.543000	0.28864	-0.340000	0.08031	CGT		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
CHRND	1144	broad.mit.edu	37	2	233394744	233394744	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:233394744T>C	ENST00000258385.3	+	7	747	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	CHRND_ENST00000543200.1_Missense_Mutation_p.Y224H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.L202P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	239					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CATCACCTTCTACCTCATCAT	0.612																																						uc002vsw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(715-717)TAC>CAC		nicotinic acetylcholine receptor delta							161.0	133.0	143.0					2																	233394744		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394744T>C	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.715T>C	2.37:g.233394744T>C	ENSP00000258385:p.Tyr239His					CHRND_uc010zmg.1_Missense_Mutation_p.Y224H|CHRND_uc010fyc.2_Missense_Mutation_p.Y112H|CHRND_uc010zmh.1_Intron	p.Y239H	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	719	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	239			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.715T>C	CCDS2494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.362525|4.362525	0.82353|0.82353	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000536614|ENST00000543200;ENST00000258385	T|T;T	0.73897|0.79554	-0.79|-1.28;-1.28	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.120747	.|0.64402	.|D	.|0.000019	D|D	0.86318|0.86318	0.5904|0.5904	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.83013|0.83013	-0.0171|-0.0171	7|10	0.87932|0.14656	D|T	0|0.56	.|.	15.3496|15.3496	0.74373|0.74373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224;239;239	.|B4DT92;A8K661;Q07001	.|.;.;ACHD_HUMAN	P|H	202|224;239	ENSP00000437740:L202P|ENSP00000438380:Y224H;ENSP00000258385:Y239H	ENSP00000408819:L202P|ENSP00000258385:Y239H	L|Y	+|+	2|1	0|0	CHRND|CHRND	233102988|233102988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.203000|2.203000	0.42752|0.42752	2.105000|2.105000	0.64084|0.64084	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
ATG4B	23192	broad.mit.edu	37	2	242592988	242592988	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:242592988C>G	ENST00000404914.3	+	4	349	c.246C>G	c.(244-246)atC>atG	p.I82M	ATG4B_ENST00000405546.3_Missense_Mutation_p.I82M|ATG4B_ENST00000474739.2_Missense_Mutation_p.I68M|ATG4B_ENST00000402096.1_Missense_Mutation_p.I8M|ATG4B_ENST00000396411.3_Missense_Mutation_p.I8M	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	82					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.I82M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GACAGATGATCTTTGCCCAAG	0.642																																					Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(244-246)ATC>ATG		APG4 autophagy 4 homolog B isoform a							27.0	32.0	30.0					2																	242592988		2113	4201	6314	SO:0001583	missense	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242592988C>G	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.246C>G	2.37:g.242592988C>G	ENSP00000384259:p.Ile82Met					ATG4B_uc002wbu.2_Missense_Mutation_p.I8M|ATG4B_uc002wbw.2_Missense_Mutation_p.I82M|ATG4B_uc010zox.1_Missense_Mutation_p.I68M|ATG4B_uc010zoy.1_Missense_Mutation_p.I8M|ATG4B_uc010fzp.2_Missense_Mutation_p.I82M|ATG4B_uc010zoz.1_Missense_Mutation_p.I8M	p.I82M	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	4	349	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	82					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	c.246C>G	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663103	0.29515	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000419606;ENST00000474739;ENST00000396411;ENST00000425239;ENST00000400771;ENST00000430617;ENST00000429899;ENST00000311517	T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.6	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	N	0.10645	0.015	0.58432	D	0.999994	B;B;B;B;B	0.32128	0.357;0.213;0.178;0.115;0.094	B;B;B;B;B	0.37989	0.237;0.262;0.237;0.137;0.237	T	0.10660	-1.0620	10	0.23302	T	0.38	-35.9327	14.2069	0.65739	0.1502:0.8498:0.0:0.0	.	68;199;170;82;8	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	M	82;199;8;82;8;68;8;82;82;8;8;8	ENSP00000383964:I82M;ENSP00000384661:I8M;ENSP00000384259:I82M;ENSP00000400050:I8M;ENSP00000442378:I68M;ENSP00000379692:I8M;ENSP00000409895:I82M;ENSP00000383582:I82M;ENSP00000407389:I8M;ENSP00000410526:I8M	ENSP00000309348:I8M	I	+	3	3	ATG4B	242241661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.522000	0.35921	2.653000	0.90120	0.561000	0.74099	ATC		0.642	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325	
SEC23B	10483	broad.mit.edu	37	20	18511418	18511418	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:18511418A>G	ENST00000336714.3	+	10	1636	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V	SEC23B_ENST00000262544.2_Missense_Mutation_p.M402V|SEC23B_ENST00000377465.1_Missense_Mutation_p.M402V|SEC23B_ENST00000377475.3_Missense_Mutation_p.M402V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	402					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGATTTCCGAATGGCATTTGG	0.398																																						uc002wqz.1																			0				ovary(1)	1						c.(1204-1206)ATG>GTG		Sec23 homolog B							82.0	81.0	82.0					20																	18511418		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18511418A>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1204A>G	20.37:g.18511418A>G	ENSP00000338844:p.Met402Val					SEC23B_uc002wra.1_Missense_Mutation_p.M402V|SEC23B_uc002wrb.1_Missense_Mutation_p.M402V|SEC23B_uc010zsb.1_Missense_Mutation_p.M384V|SEC23B_uc002wrc.1_Missense_Mutation_p.M402V	p.M402V	NM_006363	NP_006354	Q15437	SC23B_HUMAN			10	1647	+			402					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1204A>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217916	0.79352	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	M	0.87758	2.905	0.80722	D	1	B;B	0.24533	0.105;0.053	B;B	0.23419	0.046;0.029	D	0.87553	0.2466	10	0.59425	D	0.04	-24.9691	15.0164	0.71588	1.0:0.0:0.0:0.0	.	384;402	B4DJW8;Q15437	.;SC23B_HUMAN	V	402	ENSP00000338844:M402V;ENSP00000262544:M402V;ENSP00000366695:M402V;ENSP00000366685:M402V	ENSP00000262544:M402V	M	+	1	0	SEC23B	18459418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.326000	0.78906	0.533000	0.62120	ATG		0.398	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
SRC	6714	broad.mit.edu	37	20	36030005	36030005	+	Splice_Site	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36030005G>A	ENST00000373578.2	+	11	1389	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	SRC_ENST00000360723.4_Splice_Site_p.G353E|SRC_ENST00000358208.4_Splice_Site_p.G347E|SRC_ENST00000373558.2_Splice_Site_p.G353E|SRC_ENST00000445403.1_Splice_Site_p.G347E|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Splice_Site_p.G347E	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CTCTGCCCAGGGAGTTTGCTG	0.617																																						uc002xgx.2																			0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(1039-1041)GGG>GAG		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						86.0	77.0	80.0					20																	36030005		2203	4300	6503	SO:0001630	splice_region_variant	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36030005G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1040-1G>A	20.37:g.36030005G>A						SRC_uc002xgy.2_Missense_Mutation_p.G347E	p.G347E	NM_005417	NP_005408	P12931	SRC_HUMAN			11	1489	+		Myeloproliferative disorder(115;0.00878)	347			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1040G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923727	0.92319	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96715	0.9528	9	.	.	.	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	347	P12931	SRC_HUMAN	E	347;347;353;347;347;353	ENSP00000408503:G347E;ENSP00000362680:G347E;ENSP00000353950:G353E;ENSP00000350941:G347E;ENSP00000362668:G347E;ENSP00000362659:G353E	.	G	+	2	0	SRC	35463419	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GGG		0.617	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	Missense_Mutation
KIAA1755	85449	broad.mit.edu	37	20	36841631	36841631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36841631C>T	ENST00000279024.4	-	14	3687	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1139										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGAGCCTTTGCCGTCTTCAGC	0.652																																						uc002xhy.1																			0				ovary(4)|pancreas(1)	5						c.(3415-3417)GGC>GAC		hypothetical protein LOC85449							40.0	41.0	40.0					20																	36841631		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841631C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3416G>A	20.37:g.36841631C>T	ENSP00000279024:p.Gly1139Asp					KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	p.G1139D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			14	3688	-		Myeloproliferative disorder(115;0.00874)	1139					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3416G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759568	0.31137	.	.	ENSG00000149633	ENST00000279024	T	0.07021	3.23	4.4	0.00781	0.14072	.	1.255630	0.05653	N	0.585590	T	0.06234	0.0161	L	0.43923	1.385	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.43081	-0.9413	10	0.09590	T	0.72	.	1.3486	0.02168	0.1752:0.4558:0.1703:0.1987	.	1139	Q5JYT7	K1755_HUMAN	D	1139	ENSP00000279024:G1139D	ENSP00000279024:G1139D	G	-	2	0	KIAA1755	36275045	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.111000	0.15458	-0.045000	0.13468	0.561000	0.74099	GGC		0.652	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
LPIN3	64900	broad.mit.edu	37	20	39986528	39986528	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:39986528G>T	ENST00000373257.3	+	17	2137	c.2046G>T	c.(2044-2046)ggG>ggT	p.G682G		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	682	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCAGAAATGGGTACAAGTTCC	0.622																																						uc002xjx.2																			0				ovary(3)|central_nervous_system(1)	4						c.(2044-2046)GGG>GGT		lipin 3							46.0	50.0	49.0					20																	39986528		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39986528G>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2046G>T	20.37:g.39986528G>T						LPIN3_uc010ggh.2_Silent_p.G683G|LPIN3_uc010zwf.1_RNA	p.G682G	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			17	2137	+		Myeloproliferative disorder(115;0.000739)	682			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.2046G>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	9.480	1.097851	0.20552	.	.	ENSG00000132793	ENST00000445975	D	0.89485	-2.52	5.37	1.18	0.20946	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75113	-0.3432	6	.	.	.	-31.691	1.4263	0.02324	0.269:0.2582:0.3463:0.1266	.	.	.	.	V	172	ENSP00000398092:G172V	.	G	+	2	0	LPIN3	39419942	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	0.344000	0.19962	0.621000	0.30232	0.655000	0.94253	GGT		0.622	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:49574949C>T	ENST00000371588.5	-	1	138	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DPM1_ENST00000371583.5_Missense_Mutation_p.E38K|DPM1_ENST00000371582.4_Missense_Mutation_p.E38K|DPM1_ENST00000466152.1_5'UTR|MOCS3_ENST00000244051.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	38					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582																																						uc002xvw.1																			0				ovary(1)	1						c.(112-114)GAG>AAG		dolichyl-phosphate mannosyltransferase 1							51.0	45.0	47.0					20																	49574949		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49574949C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.112G>A	20.37:g.49574949C>T	ENSP00000360644:p.Glu38Lys					DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	p.E38K	NM_003859	NP_003850	O60762	DPM1_HUMAN			1	112	-			38					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.112G>A	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.151955|4.151955	0.78001|0.78001	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|T	0.60299|0.59224	0.2;0.2;0.2;0.2|0.28	5.8|5.8	5.8|5.8	0.92144|0.92144	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63319|0.63319	0.2501|0.2501	L|L	0.46567|0.46567	1.45|1.45	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.21225|.	0.053|.	B|.	0.25405|.	0.06|.	T|T	0.58295|0.58295	-0.7661|-0.7661	9|6	.|.	.|.	.|.	-16.8914|-16.8914	15.9799|15.9799	0.80102|0.80102	0.0:0.8652:0.1348:0.0|0.0:0.8652:0.1348:0.0	.|.	38|.	O60762|.	DPM1_HUMAN|.	K|Q	38|37	ENSP00000360644:E38K;ENSP00000360638:E38K;ENSP00000360639:E38K;ENSP00000394921:E38K|ENSP00000360640:R37Q	.|.	E|R	-|-	1|2	0|0	DPM1|DPM1	49008356|49008356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.055000|5.055000	0.64282|0.64282	2.733000|2.733000	0.93635|0.93635	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.582	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
NFATC2	4773	broad.mit.edu	37	20	50007936	50007936	+	Silent	SNP	C	C	T	rs148642400		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:50007936C>T	ENST00000396009.3	-	10	2994	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000609507.1_3'UTR|NFATC2_ENST00000414705.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000609943.1_Silent_p.T905T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	925					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCTTTTACGTCTGATTTC	0.498																																						uc002xwd.2																			0				ovary(2)	2						c.(2773-2775)ACG>ACA		nuclear factor of activated T-cells,		C	,,	0,4406		0,0,2203	173.0	174.0	174.0		,,2775	3.7	1.0	20	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,utr-3,coding-synonymous	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	,,925/926	50007936	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007936C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2775G>A	20.37:g.50007936C>T						NFATC2_uc002xwc.2_3'UTR|NFATC2_uc010zyv.1_3'UTR|NFATC2_uc010zyw.1_Silent_p.T706T|NFATC2_uc010zyx.1_3'UTR|NFATC2_uc010zyy.1_3'UTR|NFATC2_uc010zyz.1_Silent_p.T706T|NFATC2_uc002xwe.2_Silent_p.T905T	p.T925T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			10	2995	-	Hepatocellular(150;0.248)		925					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.2775G>A	CCDS13437.1																																																																																				0.498	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
TMPRSS15	5651	broad.mit.edu	37	21	19651292	19651292	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:19651292A>T	ENST00000284885.3	-	23	2786	c.2753T>A	c.(2752-2754)gTt>gAt	p.V918D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	918	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATATACAACCGTCCCCCA	0.328																																						uc002ykw.2																			0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2752-2754)GTT>GAT		enterokinase precursor							43.0	44.0	44.0					21																	19651292		2203	4297	6500	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19651292A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2753T>A	21.37:g.19651292A>T	ENSP00000284885:p.Val918Asp						p.V918D	NM_002772	NP_002763	P98073	ENTK_HUMAN			23	2784	-			918			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2753T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	2.162	-0.392029	0.04932	.	.	ENSG00000154646	ENST00000284885	D	0.92858	-3.12	5.4	4.26	0.50523	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.493310	0.04075	N	0.308612	D	0.88051	0.6333	L	0.37850	1.14	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.73122	-0.4082	9	.	.	.	.	7.4165	0.27047	0.8383:0.0:0.1617:0.0	.	918	P98073	ENTK_HUMAN	D	918	ENSP00000284885:V918D	.	V	-	2	0	TMPRSS15	18573163	0.000000	0.05858	0.025000	0.17156	0.001000	0.01503	0.582000	0.23834	2.043000	0.60533	0.533000	0.62120	GTT		0.328	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
IFNGR2	3460	broad.mit.edu	37	21	34805024	34805024	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:34805024C>G	ENST00000290219.6	+	6	1373	c.725C>G	c.(724-726)tCc>tGc	p.S242C	IFNGR2_ENST00000381995.1_Missense_Mutation_p.S261C|IFNGR2_ENST00000405436.1_Missense_Mutation_p.S163C	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	242					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTTTAGCCTCCACTGAGCTT	0.468																																						uc002yrp.3																			0					0						c.(724-726)TCC>TGC		interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)						148.0	132.0	137.0					21																	34805024		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34805024C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.725C>G	21.37:g.34805024C>G	ENSP00000290219:p.Ser242Cys					IFNGR2_uc002yrq.3_Missense_Mutation_p.S261C|IFNGR2_uc010gma.2_Missense_Mutation_p.S163C|IFNGR2_uc002yrr.3_Missense_Mutation_p.S163C|TMEM50B_uc002yrs.1_RNA	p.S242C	NM_005534	NP_005525	P38484	INGR2_HUMAN			6	1373	+			242			Extracellular (Potential).		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.725C>G	CCDS33544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.303807|3.303807	0.60305|0.60305	.|.	.|.	ENSG00000159128|ENSG00000159128	ENST00000421802|ENST00000290219;ENST00000381995;ENST00000405436	.|T;T;T	.|0.71103	.|0.61;0.59;-0.54	5.44|5.44	3.2|3.2	0.36748|0.36748	.|Immunoglobulin-like fold (1);	.|2.522970	.|0.01028	.|N	.|0.004089	T|T	0.74824|0.74824	0.3767|0.3767	L|L	0.50333|0.50333	1.59|1.59	0.18873|0.18873	N|N	0.999989|0.999989	.|D;D	.|0.71674	.|0.995;0.998	.|P;P	.|0.54270	.|0.747;0.747	T|T	0.56347|0.56347	-0.7994|-0.7994	5|10	.|0.51188	.|T	.|0.08	-2.5866|-2.5866	4.2521|4.2521	0.10700|0.10700	0.2206:0.643:0.0:0.1364|0.2206:0.643:0.0:0.1364	.|.	.|261;242	.|E7EUY1;P38484	.|.;INGR2_HUMAN	A|C	8|242;261;163	.|ENSP00000290219:S242C;ENSP00000371425:S261C;ENSP00000385044:S163C	.|ENSP00000290219:S242C	P|S	+|+	1|2	0|0	IFNGR2|IFNGR2	33726894|33726894	0.000000|0.000000	0.05858|0.05858	0.042000|0.042000	0.18584|0.18584	0.272000|0.272000	0.26649|0.26649	0.401000|0.401000	0.20948|0.20948	1.401000|1.401000	0.46761|0.46761	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.468	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
ZFYVE20	64145	broad.mit.edu	37	3	15123959	15123959	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:15123959C>A	ENST00000253699.3	-	9	1368	c.755G>T	c.(754-756)tGt>tTt	p.C252F	ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.C252F|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	252	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCAGTGTGTACAGCAGCGGAT	0.572																																						uc003bzm.1																			0				skin(2)	2						c.(754-756)TGT>TTT		FYVE-finger-containing Rab5 effector protein							165.0	130.0	142.0					3																	15123959		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15123959C>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.755G>T	3.37:g.15123959C>A	ENSP00000253699:p.Cys252Phe					ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	p.C252F	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			9	1369	-			252			FYVE-type.|Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.755G>T	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653282	0.88056	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	D;D	0.96885	-4.16;-4.16	5.79	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98593	1.0655	10	0.87932	D	0	-14.1829	14.7188	0.69289	0.0:0.9304:0.0:0.0696	.	252	Q9H1K0	RBNS5_HUMAN	F	252	ENSP00000253699:C252F;ENSP00000422551:C252F	ENSP00000253699:C252F	C	-	2	0	ZFYVE20	15098963	1.000000	0.71417	0.887000	0.34795	0.997000	0.91878	7.738000	0.84966	1.436000	0.47453	0.585000	0.79938	TGT		0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
FLNB	2317	broad.mit.edu	37	3	58141766	58141766	+	Silent	SNP	C	C	T	rs113304692		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:58141766C>T	ENST00000295956.4	+	41	7017	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLNB_ENST00000348383.5_Silent_p.S2243S|FLNB_ENST00000490882.1_Silent_p.S2315S|FLNB_ENST00000429972.2_Silent_p.S2273S|FLNB_ENST00000493452.1_Silent_p.S2091S|FLNB_ENST00000419752.2_Silent_p.S2104S|FLNB_ENST00000358537.3_Silent_p.S2260S|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2284	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGCACCCTCCGACGACGCCC	0.587																																						uc003djj.2																			0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(6850-6852)TCC>TCT		filamin B isoform 2		C	,,,	3,4403	6.2+/-15.9	0,3,2200	77.0	69.0	72.0		6945,6819,6780,6852	-11.6	0.0	3	dbSNP_132	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,	2315/2634,2273/2592,2260/2579,2284/2603	58141766	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58141766C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6852C>T	3.37:g.58141766C>T						FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	p.S2284S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	41	7017	+			2284			Filamin 22.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.6852C>T	CCDS2885.1																																																																																				0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
ROBO1	6091	broad.mit.edu	37	3	78711202	78711202	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:78711202C>T	ENST00000464233.1	-	15	2142	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	ROBO1_ENST00000467549.1_Missense_Mutation_p.V641I|ROBO1_ENST00000495273.1_Missense_Mutation_p.V641I|ROBO1_ENST00000436010.2_Missense_Mutation_p.V638I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	677	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.V654F(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTGCAGAACAGCATTTCCC	0.483																																						uc003dqe.2																			1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)	2						c.(2029-2031)GTT>ATT		roundabout 1 isoform a							88.0	97.0	94.0					3																	78711202		1977	4154	6131	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78711202C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2029G>A	3.37:g.78711202C>T	ENSP00000420321:p.Val677Ile					ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	p.V677I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	2237	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	677			Extracellular (Potential).|Fibronectin type-III 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2029G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617961	0.46736	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.61158	0.15;0.13;0.13;0.21	5.31	5.31	0.75309	Fibronectin, type III (3);	0.054018	0.64402	D	0.000001	T	0.56411	0.1983	L	0.46157	1.445	0.53688	D	0.999979	B;B;B;B;B;B	0.32302	0.015;0.05;0.193;0.363;0.106;0.086	B;B;B;B;B;B	0.37091	0.019;0.085;0.241;0.136;0.085;0.051	T	0.52381	-0.8583	9	.	.	.	.	18.9628	0.92682	0.0:1.0:0.0:0.0	.	641;641;677;641;641;638	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	I	638;641;677;641;641;681	ENSP00000406043:V638I;ENSP00000420321:V677I;ENSP00000420637:V641I;ENSP00000417992:V641I	.	V	-	1	0	ROBO1	78793892	0.999000	0.42202	0.778000	0.31720	0.694000	0.40290	4.018000	0.57174	2.456000	0.83038	0.555000	0.69702	GTT		0.483	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
OR5H1	26341	broad.mit.edu	37	3	97851558	97851558	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:97851558C>G	ENST00000354565.2	+	1	17	c.17C>G	c.(16-18)gCa>gGa	p.A6G	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	6						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAGGAAAATGCAACATTGCTG	0.393																																						uc011bgt.1																			0				ovary(1)|breast(1)	2						c.(16-18)GCA>GGA		olfactory receptor, family 5, subfamily H,							80.0	81.0	81.0					3																	97851558		2202	4293	6495	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851558C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.17C>G	3.37:g.97851558C>G	ENSP00000346575:p.Ala6Gly						p.A6G	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	17	+			6			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.17C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	4.486	0.090183	0.08632	.	.	ENSG00000231192	ENST00000354565	T	0.00510	6.9	3.63	-3.98	0.04082	.	1.047220	0.07606	N	0.924569	T	0.00210	0.0006	N	0.04260	-0.245	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.29458	-1.0011	10	0.24483	T	0.36	.	3.2481	0.06804	0.4568:0.2243:0.0:0.319	.	6	A6NKK0	OR5H1_HUMAN	G	6	ENSP00000346575:A6G	ENSP00000346575:A6G	A	+	2	0	OR5H1	99334248	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	-2.181000	0.01257	-0.415000	0.07484	0.195000	0.17529	GCA		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
CEP70	80321	broad.mit.edu	37	3	138216906	138216906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:138216906G>A	ENST00000264982.3	-	17	1965	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q547*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.Q415*|CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q567*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	567					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTAAATGCCTGAAATGCTGGG	0.343																																						uc003esl.2																			0				skin(1)	1						c.(1699-1701)CAG>TAG		centrosomal protein 70 kDa							119.0	114.0	116.0					3																	138216906		2203	4300	6503	SO:0001587	stop_gained	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138216906G>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1699C>T	3.37:g.138216906G>A	ENSP00000264982:p.Gln567*					CEP70_uc011bmk.1_Nonsense_Mutation_p.Q547*|CEP70_uc011bml.1_Nonsense_Mutation_p.Q549*|CEP70_uc011bmm.1_Nonsense_Mutation_p.Q415*	p.Q567*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			17	1897	-			567					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	ENST00000264982.3	37	c.1699C>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	39	7.801013	0.98498	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000459695	.	.	.	5.27	5.27	0.74061	.	0.182066	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-1.7323	12.0106	0.53284	0.0:0.1736:0.8264:0.0	.	.	.	.	X	567;547;415;567;549;40	.	ENSP00000264982:Q567X	Q	-	1	0	CEP70	139699596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.495000	0.81514	2.722000	0.93159	0.655000	0.94253	CAG		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
NAALADL2	254827	broad.mit.edu	37	3	174814645	174814645	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:174814645G>A	ENST00000454872.1	+	2	237	c.109G>A	c.(109-111)Gac>Aac	p.D37N	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	37						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACAGTACTTAGACAATGATGA	0.413																																						uc003fit.2																			0				pancreas(1)	1						c.(109-111)GAC>AAC		N-acetylated alpha-linked acidic dipeptidase 2							48.0	45.0	46.0					3																	174814645		1910	4131	6041	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814645G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.109G>A	3.37:g.174814645G>A	ENSP00000404705:p.Asp37Asn					NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	p.D37N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	196	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	37			Cytoplasmic (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.109G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146273	0.77888	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34667	1.36;1.35	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000024	T	0.50684	0.1630	L	0.27053	0.805	0.35239	D	0.777603	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.965	T	0.58907	-0.7553	10	0.72032	D	0.01	-22.2559	20.2504	0.98404	0.0:0.0:1.0:0.0	.	20;37	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	20;37	ENSP00000409858:D20N;ENSP00000404705:D37N	ENSP00000409858:D20N	D	+	1	0	NAALADL2	176297339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.506000	0.81665	2.850000	0.98022	0.650000	0.86243	GAC		0.413	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:55131142G>A	ENST00000257290.5	+	5	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(685-687)GAA>AAA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173.0	167.0	169.0					4																	55131142		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131142G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.685G>A	4.37:g.55131142G>A	ENSP00000257290:p.Glu229Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_RNA	p.E229K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1016	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		229			Ig-like C2-type 3.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.685G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103790	0.94245	.	.	ENSG00000134853	ENST00000257290	T	0.68479	-0.33	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.83202	0.5203	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79108	0.992;0.913	D	0.85423	0.1144	10	0.72032	D	0.01	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	K	229	ENSP00000257290:E229K	ENSP00000257290:E229K	E	+	1	0	PDGFRA	54825899	1.000000	0.71417	0.799000	0.32177	0.762000	0.43233	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	GAA		0.423	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
LRBA	987	broad.mit.edu	37	4	151357950	151357950	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:151357950C>A	ENST00000357115.3	-	46	7123	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2283Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D2283Y|LRBA_ENST00000535741.1_Missense_Mutation_p.D2283Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2294	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAACTTGATCATCTTCCCAT	0.388																																						uc010ipj.2																			0				ovary(3)|breast(3)|skin(1)	7						c.(6880-6882)GAT>TAT		LPS-responsive vesicle trafficking, beach and							96.0	85.0	89.0					4																	151357950		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151357950C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6880G>T	4.37:g.151357950C>A	ENSP00000349629:p.Asp2294Tyr					LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Missense_Mutation_p.D184Y|LRBA_uc003ilt.3_Missense_Mutation_p.D942Y|LRBA_uc003ilu.3_Missense_Mutation_p.D2283Y	p.D2294Y	NM_006726	NP_006717	P50851	LRBA_HUMAN			46	7354	-	all_hematologic(180;0.151)		2294			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6880G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161725|5.161725	0.94727|0.94727	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42|.	5.93|5.93	5.93|5.93	0.95920|0.95920	BEACH domain (4);|.	0.106944|.	0.64402|.	D|.	0.000006|.	D|D	0.83899|0.83899	0.5354|0.5354	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.555;0.926|.	D;B;D|.	0.63877|.	0.919;0.37;0.914|.	D|D	0.84204|0.84204	0.0452|0.0452	10|5	0.72032|.	D|.	0.01|.	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2294;2283;184|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	Y|I	2283;2283;2294;2283|935	ENSP00000446299:D2283Y;ENSP00000421552:D2283Y;ENSP00000349629:D2294Y;ENSP00000422180:D2283Y|.	ENSP00000349629:D2294Y|.	D|M	-|-	1|3	0|0	LRBA|LRBA	151577400|151577400	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.917000|0.917000	0.54804|0.54804	6.014000|6.014000	0.70784|0.70784	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FGG	2266	broad.mit.edu	37	4	155528109	155528109	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:155528109C>T	ENST00000336098.3	-	8	915	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FGG_ENST00000405164.1_Missense_Mutation_p.V301M|FGG_ENST00000407946.1_Missense_Mutation_p.V301M|FGG_ENST00000404648.3_Missense_Mutation_p.V293M	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	293	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCAGGTCCCACCTTGAACATG	0.493																																						uc003ioj.2																			0					0						c.(877-879)GTG>ATG		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						146.0	132.0	137.0					4																	155528109		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528109C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.877G>A	4.37:g.155528109C>T	ENSP00000336829:p.Val293Met					FGG_uc003iog.2_Missense_Mutation_p.V293M|FGG_uc003ioh.2_Missense_Mutation_p.V301M|FGG_uc010ipx.2_Missense_Mutation_p.V121M|FGG_uc010ipy.2_Missense_Mutation_p.V4M|FGG_uc003ioi.2_Missense_Mutation_p.V4M|FGG_uc003iok.2_Missense_Mutation_p.V301M	p.V293M	NM_021870	NP_068656	P02679	FIBG_HUMAN			8	1018	-	all_hematologic(180;0.215)	Renal(120;0.0458)	293			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.877G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318402	0.60524	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	5.91	5.06	0.68205	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.116470	0.56097	D	0.000022	D	0.98548	0.9515	M	0.79123	2.44	0.51012	D	0.999902	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.998;0.997	P;D;D;D;P	0.72338	0.899;0.977;0.936;0.936;0.895	D	0.99274	1.0894	10	0.62326	D	0.03	.	16.3524	0.83220	0.1332:0.8668:0.0:0.0	.	190;301;293;301;293	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	M	293;301;293;301	ENSP00000384860:V293M;ENSP00000384101:V301M;ENSP00000336829:V293M;ENSP00000384552:V301M	ENSP00000336829:V293M	V	-	1	0	FGG	155747559	0.996000	0.38824	0.961000	0.40146	0.799000	0.45148	1.798000	0.38814	1.461000	0.47929	0.655000	0.94253	GTG		0.493	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
SPEF2	79925	broad.mit.edu	37	5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:35659271C>T	ENST00000356031.3	+	8	1283	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SPEF2_ENST00000282469.6_Nonsense_Mutation_p.R377*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.R377*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.R377*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	377					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R377*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGAAAGACGACTTAAAGA	0.408																																						uc003jjo.2																			1	Substitution - Nonsense(1)		kidney(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1129-1131)CGA>TGA		KPL2 protein isoform 1							49.0	52.0	51.0					5																	35659271		2203	4300	6503	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35659271C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1129C>T	5.37:g.35659271C>T	ENSP00000348314:p.Arg377*					SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R377*	p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1240	+	all_lung(31;7.56e-05)		377			Potential.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.1129C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	38	7.241348	0.98157	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	.	.	.	5.53	4.64	0.57946	.	0.065861	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4384	0.75165	0.1475:0.8525:0.0:0.0	.	.	.	.	X	377	.	ENSP00000282469:R377X	R	+	1	2	SPEF2	35695028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.126000	0.31344	1.296000	0.44742	0.491000	0.48974	CGA		0.408	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
ANXA2R	389289	broad.mit.edu	37	5	43040065	43040065	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:43040065C>T	ENST00000314890.3	-	2	1503	c.84G>A	c.(82-84)gtG>gtA	p.V28V	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	28																	CTTCTGAACTCACAATAGGTG	0.557											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jnf.2																			0					0						c.(82-84)GTG>GTA		annexin II receptor							41.0	48.0	46.0					5																	43040065		2202	4300	6502	SO:0001819	synonymous_variant	389289						receptor activity	g.chr5:43040065C>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.84G>A	5.37:g.43040065C>T			OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.V28V	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			1	383	-			28					Q8NHX5	Silent	SNP	ENST00000314890.3	37	c.84G>A	CCDS34153.1																																																																																				0.557	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279	
ITGA1	3672	broad.mit.edu	37	5	52145207	52145207	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:52145207C>T	ENST00000282588.6	+	2	528	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTGTTCTACGCTGCTGCGT	0.373																																						uc003jou.2																			0				ovary(2)|lung(1)	3						c.(70-72)CGC>TGC		integrin, alpha 1 precursor							133.0	134.0	134.0					5																	52145207		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52145207C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.70C>T	5.37:g.52145207C>T	ENSP00000282588:p.Arg24Cys					ITGA1_uc003jov.2_RNA	p.R24C	NM_181501	NP_852478	P56199	ITA1_HUMAN			2	122	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	24					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.70C>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817776	0.16607	.	.	ENSG00000213949	ENST00000282588	D	0.85013	-1.93	5.53	0.205	0.15204	.	0.976260	0.08444	N	0.944947	T	0.76256	0.3962	N	0.25485	0.75	0.26840	N	0.968384	B	0.02656	0.0	B	0.04013	0.001	T	0.59810	-0.7384	10	0.31617	T	0.26	.	12.0425	0.53460	0.0755:0.6071:0.3174:0.0	.	24	P56199	ITA1_HUMAN	C	24	ENSP00000282588:R24C	ENSP00000282588:R24C	R	+	1	0	ITGA1	52180964	1.000000	0.71417	0.631000	0.29282	0.019000	0.09904	1.251000	0.32862	0.093000	0.17368	-0.865000	0.03005	CGC		0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
ANKRD34B	340120	broad.mit.edu	37	5	79855139	79855139	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:79855139C>T	ENST00000338682.3	-	5	1372	c.700G>A	c.(700-702)Gca>Aca	p.A234T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	234						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGCCAATGCAGGTTTCCTC	0.522																																						uc010jam.2																			0				pancreas(1)	1						c.(700-702)GCA>ACA		ankyrin repeat domain 34B							46.0	50.0	48.0					5																	79855139		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855139C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.700G>A	5.37:g.79855139C>T	ENSP00000339802:p.Ala234Thr					ANKRD34B_uc003kgw.2_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.2_Missense_Mutation_p.A234T	p.A234T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1050	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	234					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.700G>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728863	0.03135	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	5.85	-1.47	0.08772	.	1.111340	0.06917	N	0.808643	T	0.12774	0.0310	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36672	-0.9738	10	0.11794	T	0.64	-0.1333	0.3869	0.00404	0.2076:0.2794:0.2032:0.3098	.	234	A5PLL1	AN34B_HUMAN	T	234	ENSP00000339802:A234T	ENSP00000339802:A234T	A	-	1	0	ANKRD34B	79890895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.284000	0.02793	-0.345000	0.08325	-0.878000	0.02970	GCA		0.522	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441	
SLCO4C1	353189	broad.mit.edu	37	5	101585466	101585466	+	Missense_Mutation	SNP	G	G	A	rs373841324		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:101585466G>A	ENST00000310954.6	-	9	1782	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTACAAGGGGCTATCAAGTT	0.373																																						uc003knm.2																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1495-1497)GCC>GTC		solute carrier organic anion transporter family,							96.0	96.0	96.0					5																	101585466		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585466G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1496C>T	5.37:g.101585466G>A	ENSP00000309741:p.Ala499Val						p.A499V	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1783	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	499			Kazal-like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1496C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835633	0.50951	.	.	ENSG00000173930	ENST00000310954	T	0.40225	1.04	5.76	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.079098	0.52532	D	0.000078	T	0.61837	0.2379	M	0.86864	2.845	0.37939	D	0.93226	P	0.44816	0.844	P	0.52598	0.703	T	0.72447	-0.4291	10	0.66056	D	0.02	.	13.544	0.61693	0.0758:0.0:0.9242:0.0	.	499	Q6ZQN7	SO4C1_HUMAN	V	499	ENSP00000309741:A499V	ENSP00000309741:A499V	A	-	2	0	SLCO4C1	101613365	1.000000	0.71417	0.489000	0.27452	0.033000	0.12548	4.960000	0.63673	1.445000	0.47624	0.460000	0.39030	GCC		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
TXNDC15	79770	broad.mit.edu	37	5	134223439	134223439	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:134223439A>G	ENST00000358387.4	+	2	783	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	TXNDC15_ENST00000546290.1_Missense_Mutation_p.Q30R	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	53					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCCTCTCCAGGTGGGGGCT	0.567																																						uc003lac.1																			0				ovary(1)|breast(1)	2						c.(157-159)CAG>CGG		disulfide isomerase precursor							48.0	49.0	48.0					5																	134223439		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134223439A>G	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.158A>G	5.37:g.134223439A>G	ENSP00000351157:p.Gln53Arg					TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	p.Q53R	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	816	+			53			Extracellular (Potential).		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.158A>G	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.12|12.12	1.842963|1.842963	0.32606|0.32606	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290|ENST00000508779	T;T|.	0.49139|.	0.79;0.81|.	5.77|5.77	0.411|0.411	0.16392|0.16392	.|.	0.494492|.	0.20475|.	N|.	0.091620|.	T|T	0.20088|0.20088	0.0483|0.0483	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.33141|.	T|.	0.24|.	-12.9026|-12.9026	0.4762|0.4762	0.00540|0.00540	0.4162:0.1276:0.2091:0.2471|0.4162:0.1276:0.2091:0.2471	.|.	53|.	Q96J42|.	TXD15_HUMAN|.	R|G	53;51;36;30|37	ENSP00000351157:Q53R;ENSP00000443942:Q30R|.	ENSP00000351157:Q53R|.	Q|R	+|+	2|1	0|2	TXNDC15|TXNDC15	134251338|134251338	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.030000|0.030000	0.12068|0.12068	1.099000|1.099000	0.31013|0.31013	0.085000|0.085000	0.17107|0.17107	-0.353000|-0.353000	0.07706|0.07706	CAG|AGG		0.567	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	
CDC23	8697	broad.mit.edu	37	5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137548883G>A	ENST00000394886.2	-	1	149	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_ENST00000394884.3_Missense_Mutation_p.A40V|CDC23_ENST00000505120.1_Missense_Mutation_p.A40V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572																																						uc003lcl.2																			0					0						c.(118-120)GCG>GTG		cell division cycle protein 23							80.0	90.0	87.0					5																	137548883		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548883G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.119C>T	5.37:g.137548883G>A	ENSP00000378350:p.Ala40Val					CDC23_uc003lcm.1_Missense_Mutation_p.A40V	p.A40V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	150	-			40					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.119C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223576	0.22457	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.42131	0.98;0.98;0.98	5.93	5.01	0.66863	Cdc23 (1);	0.107089	0.64402	D	0.000003	T	0.26593	0.0650	N	0.05467	-0.045	0.36629	D	0.876179	D;B	0.62365	0.991;0.034	P;B	0.47827	0.558;0.023	T	0.09885	-1.0654	10	0.02654	T	1	-12.4821	16.2719	0.82626	0.0:0.1325:0.8675:0.0	.	40;40	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	V	40	ENSP00000378350:A40V;ENSP00000378348:A40V;ENSP00000423704:A40V	ENSP00000378348:A40V	A	-	2	0	CDC23	137576782	1.000000	0.71417	0.952000	0.39060	0.994000	0.84299	4.093000	0.57714	2.826000	0.97356	0.655000	0.94253	GCG		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
FAM53C	51307	broad.mit.edu	37	5	137682463	137682463	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137682463A>G	ENST00000239906.5	+	5	1422	c.994A>G	c.(994-996)Atg>Gtg	p.M332V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.M332V|FAM53C_ENST00000513056.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	332										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCATGGTTCATGGCCTGTAG	0.572																																						uc003lcv.2																			0				ovary(1)	1						c.(994-996)ATG>GTG		hypothetical protein LOC51307							49.0	52.0	51.0					5																	137682463		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137682463A>G	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.994A>G	5.37:g.137682463A>G	ENSP00000239906:p.Met332Val					FAM53C_uc003lcw.2_Missense_Mutation_p.M332V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	p.M332V	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	1464	+			332					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.994A>G	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452761	0.26074	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.45276	0.9;0.9	5.72	5.72	0.89469	.	0.186505	0.49916	D	0.000130	T	0.32285	0.0824	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.30029	0.11	T	0.10706	-1.0618	10	0.02654	T	1	-6.6923	10.6903	0.45867	0.8569:0.0:0.0:0.1431	.	332	Q9NYF3	FA53C_HUMAN	V	332	ENSP00000403705:M332V;ENSP00000239906:M332V	ENSP00000239906:M332V	M	+	1	0	FAM53C	137710362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.630000	0.46494	2.171000	0.68590	0.533000	0.62120	ATG		0.572	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
PCDHA1	56147	broad.mit.edu	37	5	140167728	140167728	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140167728C>T	ENST00000504120.2	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A618V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGGCGCGCGCATCCCG	0.672																																						uc003lhb.2																			0				skin(1)	1						c.(1852-1854)GCG>GTG		protocadherin alpha 1 isoform 1 precursor							68.0	72.0	71.0					5																	140167728		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167728C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1853C>T	5.37:g.140167728C>T	ENSP00000420840:p.Ala618Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A618V	p.A618V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+			618			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1853C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	1.011	-0.687777	0.03328	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.38560	1.13;1.13	3.25	1.1	0.20463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29652	0.0740	N	0.25890	0.77	0.09310	N	1	B;B	0.18166	0.026;0.021	B;B	0.15870	0.014;0.008	T	0.24154	-1.0168	9	0.46703	T	0.11	.	11.0192	0.47707	0.0:0.6816:0.3184:0.0	.	618;618	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	618	ENSP00000420840:A618V;ENSP00000367373:A618V	ENSP00000367373:A618V	A	+	2	0	PCDHA1	140147912	0.832000	0.29368	0.002000	0.10522	0.023000	0.10783	0.915000	0.28638	0.434000	0.26340	0.484000	0.47621	GCG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHB7	56129	broad.mit.edu	37	5	140553181	140553181	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140553181C>T	ENST00000231137.3	+	1	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507																																						uc003lit.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(763-765)AGC>AGT		protocadherin beta 7 precursor							67.0	72.0	70.0					5																	140553181		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553181C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.765C>T	5.37:g.140553181C>T							p.S255S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	939	+			255			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.765C>T	CCDS4249.1																																																																																				0.507	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
SLC34A1	6569	broad.mit.edu	37	5	176815108	176815108	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:176815108C>A	ENST00000324417.5	+	7	849	c.758C>A	c.(757-759)gCc>gAc	p.A253D	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A253D	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	253					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTGGTGGCCTCCTTCAAC	0.592																																						uc003mgk.3																			0				ovary(1)	1						c.(757-759)GCC>GAC		solute carrier family 34 (sodium phosphate),							75.0	65.0	68.0					5																	176815108		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176815108C>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.758C>A	5.37:g.176815108C>A	ENSP00000321424:p.Ala253Asp						p.A253D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	859	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	253			Extracellular (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.758C>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	8.124	0.781551	0.16120	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	T;T	0.46063	0.88;1.55	5.05	4.18	0.49190	.	0.333064	0.31922	N	0.006858	T	0.17789	0.0427	N	0.04297	-0.235	0.09310	N	0.999993	B	0.06786	0.001	B	0.12837	0.008	T	0.21314	-1.0249	10	0.13108	T	0.6	-21.4714	7.3188	0.26515	0.2887:0.6327:0.0:0.0787	.	253	Q06495	NPT2A_HUMAN	D	253	ENSP00000423022:A253D;ENSP00000321424:A253D	ENSP00000321424:A253D	A	+	2	0	SLC34A1	176747714	0.028000	0.19301	1.000000	0.80357	0.925000	0.55904	0.384000	0.20668	1.140000	0.42260	0.561000	0.74099	GCC		0.592	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	
FLT4	2324	broad.mit.edu	37	5	180048821	180048821	+	Missense_Mutation	SNP	C	C	T	rs368426530		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:180048821C>T	ENST00000261937.6	-	13	1819	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FLT4_ENST00000502649.1_Missense_Mutation_p.D581N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D581N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	581	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGCTGTCGGCTTGGCAG	0.617																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1741-1743)GAC>AAC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	82.0	85.0	84.0		1741,1741	4.6	0.9	5		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_002020.4,NM_182925.4	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	581/1299,581/1364	180048821	1,13005	2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048821C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1741G>A	5.37:g.180048821C>T	ENSP00000261937:p.Asp581Asn					FLT4_uc003mlz.3_Missense_Mutation_p.D581N|FLT4_uc003mmb.1_Missense_Mutation_p.D114N|FLT4_uc011dgy.1_Missense_Mutation_p.D581N	p.D581N	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1820	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	581			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1741G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102599	0.76983	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13307	2.6;2.6;2.6	4.64	4.64	0.57946	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33933	0.0880	L	0.57536	1.79	0.80722	D	1	D;P;P;P	0.89917	1.0;0.905;0.893;0.893	D;B;B;B	0.80764	0.994;0.392;0.416;0.416	T	0.02519	-1.1147	9	0.34782	T	0.22	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	581;391;581;581	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	581;581;581;391	ENSP00000261937:D581N;ENSP00000377016:D581N;ENSP00000426057:D581N	ENSP00000261937:D581N	D	-	1	0	FLT4	179981427	1.000000	0.71417	0.930000	0.37139	0.441000	0.31987	7.487000	0.81328	2.300000	0.77407	0.561000	0.74099	GAC		0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
NKAPL	222698	broad.mit.edu	37	6	28227888	28227888	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:28227888G>A	ENST00000343684.3	+	1	791	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	247										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AACCAAAAAAGAATCCAGTGA	0.368																																						uc003nkt.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(739-741)GAA>AAA		NFKB activating protein-like							25.0	27.0	27.0					6																	28227888		2202	4300	6502	SO:0001583	missense	222698							g.chr6:28227888G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.739G>A	6.37:g.28227888G>A	ENSP00000345716:p.Glu247Lys					ZKSCAN4_uc011dlb.1_5'Flank	p.E247K	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	791	+			247					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.739G>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293127	0.23564	.	.	ENSG00000189134	ENST00000343684	T	0.13420	2.59	4.21	2.43	0.29744	.	28.980700	0.00357	N	0.000021	T	0.06781	0.0173	M	0.66939	2.045	0.58432	D	0.99999	B	0.32653	0.379	B	0.23150	0.044	T	0.39482	-0.9612	10	0.29301	T	0.29	-2.4831	8.5718	0.33574	0.1928:0.0:0.8072:0.0	.	247	Q5M9Q1	NKAPL_HUMAN	K	247	ENSP00000345716:E247K	ENSP00000345716:E247K	E	+	1	0	NKAPL	28335867	1.000000	0.71417	0.129000	0.21949	0.623000	0.37688	2.037000	0.41174	0.726000	0.32339	0.655000	0.94253	GAA		0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
PKHD1	5314	broad.mit.edu	37	6	51768472	51768472	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:51768472C>T	ENST00000371117.3	-	43	7194	c.6919G>A	c.(6919-6921)Ggt>Agt	p.G2307S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2307S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2307					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTCGGCACCAGAAACCTGG	0.418																																						uc003pah.1																			0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6919-6921)GGT>AGT		fibrocystin isoform 1							186.0	170.0	175.0					6																	51768472		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51768472C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6919G>A	6.37:g.51768472C>T	ENSP00000360158:p.Gly2307Ser					PKHD1_uc010jzn.1_Missense_Mutation_p.G290S|PKHD1_uc003pai.2_Missense_Mutation_p.G2307S	p.G2307S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			43	7195	-	Lung NSC(77;0.0605)		2307			PbH1 3.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6919G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561191	0.65538	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79749	-1.3;-1.3	5.87	5.87	0.94306	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.360108	0.26041	N	0.026686	T	0.78336	0.4267	M	0.64997	1.995	0.30741	N	0.746179	P;B;P	0.52692	0.885;0.063;0.955	P;B;P	0.54889	0.589;0.072;0.763	T	0.73151	-0.4073	10	0.11485	T	0.65	.	17.3804	0.87403	0.0:1.0:0.0:0.0	.	2307;2307;2307	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2307	ENSP00000360158:G2307S;ENSP00000341097:G2307S	ENSP00000341097:G2307S	G	-	1	0	PKHD1	51876431	1.000000	0.71417	0.989000	0.46669	0.422000	0.31414	4.428000	0.59894	2.770000	0.95276	0.650000	0.86243	GGT		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
BMP5	653	broad.mit.edu	37	6	55638880	55638880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:55638880G>A	ENST00000370830.3	-	4	1692	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	BMP5_ENST00000446683.2_Missense_Mutation_p.H332Y	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	332					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGTCCTGATGAGAGCTGGAT	0.468																																						uc003pcq.2																			0				ovary(2)	2						c.(994-996)CAT>TAT		bone morphogenetic protein 5 preproprotein							168.0	146.0	154.0					6																	55638880		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638880G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.994C>T	6.37:g.55638880G>A	ENSP00000359866:p.His332Tyr					BMP5_uc011dxf.1_Missense_Mutation_p.H332Y	p.H332Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1706	-	Lung NSC(77;0.0462)		332					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.994C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354086	0.41700	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72725	-0.68;-0.26	5.74	5.74	0.90152	.	0.419107	0.30658	N	0.009147	T	0.40015	0.1100	N	0.08118	0	0.40619	D	0.981746	B;B	0.19331	0.035;0.035	B;B	0.26614	0.071;0.044	T	0.46076	-0.9217	10	0.59425	D	0.04	.	13.1723	0.59606	0.0727:0.0:0.9273:0.0	.	332;332	B4E0Y4;P22003	.;BMP5_HUMAN	Y	332	ENSP00000359866:H332Y;ENSP00000391818:H332Y	ENSP00000359866:H332Y	H	-	1	0	BMP5	55746839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.685000	0.84117	2.703000	0.92315	0.655000	0.94253	CAT		0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
BEND6	221336	broad.mit.edu	37	6	56883316	56883316	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:56883316C>G	ENST00000370746.3	+	6	1079	c.810C>G	c.(808-810)agC>agG	p.S270R	BEND6_ENST00000545789.1_Missense_Mutation_p.S172R|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	270	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATTTAAGCAAAAATCTTA	0.313																																						uc010kab.2																			0					0						c.(808-810)AGC>AGG		BEN domain containing 6							69.0	66.0	67.0					6																	56883316		1816	4074	5890	SO:0001583	missense	221336							g.chr6:56883316C>G	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.810C>G	6.37:g.56883316C>G	ENSP00000359782:p.Ser270Arg					BEND6_uc003pdi.3_Missense_Mutation_p.S172R	p.S270R	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			6	1396	+			270			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.810C>G	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297011	0.81025	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	5.49	5.49	0.81192	BEN domain (1);	0.000000	0.44688	U	0.000437	T	0.39784	0.1091	N	0.08118	0	0.44175	D	0.996989	D;D	0.64830	0.986;0.994	P;P	0.56514	0.8;0.799	T	0.53662	-0.8407	9	0.87932	D	0	-13.7122	16.8714	0.86041	0.0:1.0:0.0:0.0	.	270;172	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	R	270;172	.	ENSP00000359782:S270R	S	+	3	2	BEND6	56991275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.960000	0.49161	2.727000	0.93392	0.655000	0.94253	AGC		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	
KHDRBS2	202559	broad.mit.edu	37	6	62611257	62611257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:62611257C>T	ENST00000281156.4	-	5	781	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGTTCCTGACGAATTTCATC	0.403																																						uc003peg.2																			0				skin(7)|ovary(3)|liver(1)	11						c.(502-504)CGT>CAT		KH domain-containing, RNA-binding, signal							99.0	98.0	98.0					6																	62611257		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611257C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.503G>A	6.37:g.62611257C>T	ENSP00000281156:p.Arg168His						p.R168H	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	750	-			168					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.503G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985555	0.74589	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19806	2.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00478	-1.1715	10	0.44086	T	0.13	-3.1157	20.8794	0.99867	0.0:1.0:0.0:0.0	.	168	Q5VWX1	KHDR2_HUMAN	H	168	ENSP00000281156:R168H	ENSP00000281156:R168H	R	-	2	0	KHDRBS2	62669216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.162000	0.71874	2.941000	0.99782	0.655000	0.94253	CGT		0.403	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
SNAP91	9892	broad.mit.edu	37	6	84303343	84303343	+	Missense_Mutation	SNP	G	G	C	rs376878292		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:84303343G>C	ENST00000439399.2	-	18	1866	c.1550C>G	c.(1549-1551)cCa>cGa	p.P517R	SNAP91_ENST00000521743.1_Missense_Mutation_p.P517R|SNAP91_ENST00000428679.2_Missense_Mutation_p.P517R|SNAP91_ENST00000195649.6_Missense_Mutation_p.P517R|SNAP91_ENST00000520302.1_Missense_Mutation_p.P515R|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.P517R|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P517R	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	517	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607																																						uc011dze.1																			0				ovary(1)	1						c.(1549-1551)CCA>CGA		synaptosomal-associated protein, 91kDa homolog							20.0	27.0	25.0					6																	84303343		2143	4262	6405	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84303343G>C	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1550C>G	6.37:g.84303343G>C	ENSP00000400459:p.Pro517Arg					SNAP91_uc011dzd.1_Missense_Mutation_p.P20R|SNAP91_uc003pkb.2_Missense_Mutation_p.P480R|SNAP91_uc003pkc.2_Missense_Mutation_p.P515R|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P515R	p.P517R	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	17	1867	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	517			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1550C>G	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354226	0.82243	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888	T;T;T;T;T;T;T	0.15256	2.45;2.48;2.48;2.45;2.5;2.44;2.48	5.63	5.63	0.86233	.	0.417900	0.28088	N	0.016658	T	0.13713	0.0332	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.41313	0.745;0.535;0.535;0.535	B;B;B;B	0.42959	0.403;0.228;0.331;0.228	T	0.01476	-1.1345	10	0.66056	D	0.02	-5.7058	19.6728	0.95916	0.0:0.0:1.0:0.0	.	398;515;517;515	B7Z2N2;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	R	517;517;517;517;517;515;517;200	ENSP00000429776:P517R;ENSP00000358708:P517R;ENSP00000400459:P517R;ENSP00000195649:P517R;ENSP00000412492:P517R;ENSP00000428511:P515R;ENSP00000428215:P517R	ENSP00000195649:P517R	P	-	2	0	SNAP91	84360062	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.258000	0.89853	2.646000	0.89796	0.462000	0.41574	CCA		0.607	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
MAP3K7	6885	broad.mit.edu	37	6	91266234	91266234	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:91266234G>A	ENST00000369329.3	-	6	753	c.592C>T	c.(592-594)Cct>Tct	p.P198S	MAP3K7_ENST00000369327.3_Missense_Mutation_p.P198S|MAP3K7_ENST00000369325.3_Missense_Mutation_p.P198S|MAP3K7_ENST00000369332.3_Missense_Mutation_p.P198S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	198	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAACTTCAGGTGCCATCCAA	0.403																																						uc003pnz.1																			0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(592-594)CCT>TCT		mitogen-activated protein kinase kinase kinase 7							146.0	129.0	135.0					6																	91266234		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91266234G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.592C>T	6.37:g.91266234G>A	ENSP00000358335:p.Pro198Ser					MAP3K7_uc003poa.1_Missense_Mutation_p.P198S|MAP3K7_uc003pob.1_Missense_Mutation_p.P198S|MAP3K7_uc003poc.1_Missense_Mutation_p.P198S	p.P198S	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	754	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	198			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.592C>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650811	0.87958	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98849	4.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96555	0.9411	10	0.87932	D	0	.	18.3589	0.90368	0.0:0.0:1.0:0.0	.	198;198;198;198	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	S	198;198;198;198;125	ENSP00000358338:P198S;ENSP00000358335:P198S;ENSP00000358331:P198S;ENSP00000358333:P198S	ENSP00000358331:P198S	P	-	1	0	MAP3K7	91322955	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.864000	0.99589	2.325000	0.78763	0.460000	0.39030	CCT		0.403	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
SEPT7	989	broad.mit.edu	37	7	35942771	35942771	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:35942771A>G	ENST00000435235.1	+	12	1493	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	SEPT7_ENST00000399034.2_Missense_Mutation_p.E408G|SEPT7_ENST00000350320.6_Missense_Mutation_p.E406G|SEPT7_ENST00000399035.3_Missense_Mutation_p.E406G|SEPT7_ENST00000494488.2_3'UTR|SEPT7_ENST00000432293.2_Missense_Mutation_p.E58G			Q16181	SEPT7_HUMAN	septin 7	407					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTCGAGGATGAGAAAGCAAAC	0.383																																						uc010kxc.2																			0					0						c.(1219-1221)GAG>GGG		cell division cycle 10 isoform 1							58.0	55.0	56.0					7																	35942771		1851	4095	5946	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35942771A>G	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.1061A>G	7.37:g.35942771A>G	ENSP00000413507:p.Glu354Gly					SEPT7_uc011kat.1_Missense_Mutation_p.E406G|SEPT7_uc011kau.1_Missense_Mutation_p.E371G|SEPT7_uc011kav.1_Missense_Mutation_p.E354G|SEPT7_uc003tey.2_Missense_Mutation_p.E255G	p.E407G	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			12	1413	+			407			Potential.		Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.1220A>G		.	.	.	.	.	.	.	.	.	.	A	21.3	4.122687	0.77436	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000432293	T;T;T;T	0.55930	0.5;0.49;0.49;0.49	5.12	5.12	0.69794	.	0.060660	0.64402	U	0.000005	T	0.59622	0.2207	M	0.64997	1.995	0.80722	D	1	P;D;D	0.56287	0.954;0.975;0.975	P;P;P	0.50136	0.548;0.632;0.632	T	0.62374	-0.6868	10	0.45353	T	0.12	.	15.2138	0.73247	1.0:0.0:0.0:0.0	.	352;406;407	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	G	354;408;406;406;352;354;58	ENSP00000413507:E354G;ENSP00000381992:E408G;ENSP00000344868:E406G;ENSP00000381993:E406G	ENSP00000344868:E406G	E	+	2	0	SEPT7	35909296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.053000	0.61076	0.496000	0.49642	GAG		0.383	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788	
RBM48	84060	broad.mit.edu	37	7	92163996	92163997	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:92163996_92163997delTT	ENST00000265732.5	+	4	770_771	c.729_730delTT	c.(727-732)tctttgfs	p.L244fs	RBM48_ENST00000481551.1_Frame_Shift_Del_p.L244fs	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	244						nucleus (GO:0005634)	RNA binding (GO:0003723)										ACAATGACTCTTTGCGGAAAAC	0.45																																						uc003ulz.2																			0				ovary(2)	2						c.(727-732)TCTTTGfs		hypothetical protein LOC84060				2,3640		1,0,1820						2.5	0.0			92	3,7865		1,1,3932	no	frameshift	C7orf64	NM_032120.2		2,1,5752	A1A1,A1R,RR		0.0381,0.0549,0.0434				5,11505				SO:0001589	frameshift_variant	84060						nucleotide binding	g.chr7:92163996_92163997delTT	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.729_730delTT	7.37:g.92163996_92163997delTT	ENSP00000265732:p.Leu244fs					C7orf64_uc003uma.2_Frame_Shift_Del_p.S243fs	p.S243fs	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			4	770_771	+			243_244					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Frame_Shift_Del	DEL	ENST00000265732.5	37	c.729_730delTT	CCDS43615.1																																																																																				0.450	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
SRRT	51593	broad.mit.edu	37	7	100485931	100485931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:100485931C>G	ENST00000347433.4	+	19	2640	c.2482C>G	c.(2482-2484)Ccg>Gcg	p.P828A	SRRT_ENST00000432932.1_Missense_Mutation_p.P823A|SRRT_ENST00000457580.2_Missense_Mutation_p.P824A|SRRT_ENST00000388793.4_Missense_Mutation_p.P827A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	828	Pro-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCCATGCCCCGTATGGTGC	0.577																																						uc003uwy.2																			0				ovary(2)	2						c.(2482-2484)CCG>GCG		arsenate resistance protein 2 isoform a							58.0	62.0	61.0					7																	100485931		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485931C>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2482C>G	7.37:g.100485931C>G	ENSP00000314491:p.Pro828Ala					SRRT_uc010lhl.1_Missense_Mutation_p.P827A|SRRT_uc003uxa.2_Missense_Mutation_p.P823A|SRRT_uc003uwz.2_Missense_Mutation_p.P824A|uc010lhm.1_5'Flank	p.P828A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			20	2750	+			828			Pro-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.2482C>G	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061600	0.19987	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.59	3.71	0.42584	Arsenite-resistance protein 2 (1);	0.190417	0.46442	D	0.000299	T	0.45377	0.1339	L	0.58810	1.83	0.36789	D	0.884764	B;P;P;P	0.45474	0.356;0.859;0.759;0.798	B;B;B;B	0.42030	0.115;0.373;0.244;0.358	T	0.49934	-0.8886	9	0.11794	T	0.64	.	10.6135	0.45436	0.0:0.9047:0.0:0.0953	.	827;823;824;828	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	A	824;827;823;828;451	.	ENSP00000314491:P828A	P	+	1	0	SRRT	100323867	0.991000	0.36638	0.031000	0.17742	0.287000	0.27160	4.805000	0.62561	1.154000	0.42482	0.484000	0.47621	CCG		0.577	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
LAMB4	22798	broad.mit.edu	37	7	107708521	107708521	+	Missense_Mutation	SNP	C	C	T	rs544784448		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:107708521C>T	ENST00000388781.3	-	19	2469	c.2386G>A	c.(2386-2388)Ggg>Agg	p.G796R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G796R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G796R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	796	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.0					uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2386-2388)GGG>AGG		laminin, beta 4 precursor							171.0	160.0	164.0					7																	107708521		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107708521C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2386G>A	7.37:g.107708521C>T	ENSP00000373433:p.Gly796Arg					LAMB4_uc003vey.2_Missense_Mutation_p.G796R	p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			19	2470	-			796			Laminin EGF-like 6.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2386G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094972	0.76870	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	D;D;D	0.85629	-2.01;-2.01;-2.01	4.78	4.78	0.61160	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.56097	D	0.000034	D	0.94476	0.8222	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95672	0.8724	10	0.87932	D	0	.	18.3584	0.90367	0.0:1.0:0.0:0.0	.	796	A4D0S4	LAMB4_HUMAN	R	796	ENSP00000205386:G796R;ENSP00000373433:G796R;ENSP00000373432:G796R	ENSP00000205386:G796R	G	-	1	0	LAMB4	107495757	1.000000	0.71417	0.686000	0.30086	0.350000	0.29205	5.361000	0.66092	2.640000	0.89533	0.655000	0.94253	GGG		0.567	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
GPR85	54329	broad.mit.edu	37	7	112724397	112724397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:112724397C>T	ENST00000297146.3	-	3	983	c.380G>A	c.(379-381)cGc>cAc	p.R127H	GPR85_ENST00000501255.2_Missense_Mutation_p.R127H|GPR85_ENST00000424100.1_Missense_Mutation_p.R127H|GPR85_ENST00000449591.1_Missense_Mutation_p.R127H|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	127					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTATAGAAGCGGTGATGGGC	0.493																																						uc010ljv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(379-381)CGC>CAC		G protein-coupled receptor 85							70.0	71.0	71.0					7																	112724397		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724397C>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.380G>A	7.37:g.112724397C>T	ENSP00000297146:p.Arg127His					GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H	p.R127H	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	897	-			127			Cytoplasmic (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.380G>A	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964276	0.74131	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.62062	-0.6933	10	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	127	P60893	GPR85_HUMAN	H	127	ENSP00000445808:R127H;ENSP00000297146:R127H;ENSP00000396763:R127H;ENSP00000401178:R127H	ENSP00000297146:R127H	R	-	2	0	GPR85	112511633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.539000	0.85634	0.561000	0.74099	CGC		0.493	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2		
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.R619R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)		large_intestine(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1855-1857)CGC>CGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						114.0	110.0	112.0					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173579G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1857C>T	7.37:g.126173579G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_RNA	p.R619R	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2168	-		Prostate(267;0.186)	619			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1857C>T	CCDS5794.1																																																																																				0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
CALD1	800	broad.mit.edu	37	7	134618735	134618735	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:134618735A>G	ENST00000361675.2	+	5	1444	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	405					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAAGATAAAAGGGGAAAAGG	0.418																																						uc003vrz.2																			0					0						c.(1213-1215)AAA>AAG		caldesmon 1 isoform 1							101.0	108.0	105.0					7																	134618735		2203	4300	6503	SO:0001819	synonymous_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618735A>G	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1215A>G	7.37:g.134618735A>G						CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Silent_p.K269K	p.K405K	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	1674	+			405					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	c.1215A>G	CCDS5835.1																																																																																				0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-	rs540622203	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552														5	0.000998403	0.0015	0.0	5008	,	,		18692	0.002		0.0	False		,,,				2504	0.001					uc003wmy.2																			0					0						c.(778-780)GAGdel		nucleolar protein with MIF4G domain 1																																				SO:0001651	inframe_deletion	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743209_156743211delGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.778_780delGAG	7.37:g.156743218_156743220delGAG	ENSP00000275820:p.Glu264del						p.E264del	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	793_795	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	c.778_780delGAG	CCDS34787.1																																																																																				0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
ADAM2	2515	broad.mit.edu	37	8	39626970	39626970	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:39626970C>A	ENST00000265708.4	-	12	1256	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	ADAM2_ENST00000379853.2_Missense_Mutation_p.A259S|ADAM2_ENST00000521880.1_Missense_Mutation_p.A385S|ADAM2_ENST00000347580.4_Missense_Mutation_p.A366S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	385	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCACACACTGCTTGCTGTTTG	0.448																																						uc003xnj.2																			0				ovary(1)|lung(1)	2						c.(1153-1155)GCA>TCA		ADAM metallopeptidase domain 2 proprotein							159.0	145.0	149.0					8																	39626970		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626970C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1153G>T	8.37:g.39626970C>A	ENSP00000265708:p.Ala385Ser					ADAM2_uc003xnk.2_Missense_Mutation_p.A366S|ADAM2_uc011lck.1_Missense_Mutation_p.A385S|ADAM2_uc003xnl.2_Missense_Mutation_p.A259S	p.A385S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1228	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	385			Extracellular (Potential).|Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1153G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	6.344	0.431564	0.12045	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02158	5.05;4.42;5.28;5.24	5.11	-0.477	0.12097	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.01870	0.0059	L	0.35288	1.05	0.09310	N	1	B;B;B;B	0.22480	0.001;0.07;0.012;0.003	B;B;B;B	0.22152	0.006;0.038;0.037;0.006	T	0.47911	-0.9080	8	.	.	.	.	4.6253	0.12476	0.1477:0.3335:0.4328:0.086	.	385;259;366;385	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	S	366;259;385;385	ENSP00000343854:A366S;ENSP00000369182:A259S;ENSP00000265708:A385S;ENSP00000429352:A385S	.	A	-	1	0	ADAM2	39746127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-0.012000	0.14223	-0.156000	0.13503	GCA		0.448	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
PLAT	5327	broad.mit.edu	37	8	42042617	42042617	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:42042617T>G	ENST00000220809.4	-	7	869	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	PLAT_ENST00000429089.2_Missense_Mutation_p.T205P|PLAT_ENST00000270189.6_Missense_Mutation_p.T205P|PLAT_ENST00000519510.1_Missense_Mutation_p.T142P|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.T159P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	205	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CAGGCAGGGGTGCTGCAGAAC	0.587																																						uc003xos.2																			0				breast(1)|skin(1)	2						c.(613-615)ACC>CCC		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						78.0	66.0	70.0					8																	42042617		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42042617T>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.613A>C	8.37:g.42042617T>G	ENSP00000220809:p.Thr205Pro					PLAT_uc010lxf.1_Missense_Mutation_p.T122P|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.T159P|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	p.T205P	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	822	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	205			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.613A>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345309	0.41498	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510	T;T;T;T;T	0.80393	-0.24;-0.24;-0.24;-0.24;-1.37	5.41	4.25	0.50352	Kringle (4);Kringle-like fold (1);	0.615649	0.17984	N	0.155450	D	0.82499	0.5050	L	0.52759	1.655	0.25753	N	0.985033	D;D;P	0.57571	0.966;0.98;0.907	P;P;P	0.57502	0.822;0.782;0.722	T	0.73477	-0.3970	10	0.72032	D	0.01	.	8.087	0.30777	0.0:0.1722:0.0:0.8278	.	205;159;205	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	P	205;205;205;159;142	ENSP00000270189:T205P;ENSP00000392045:T205P;ENSP00000220809:T205P;ENSP00000270188:T159P;ENSP00000428886:T142P	ENSP00000220809:T205P	T	-	1	0	PLAT	42161774	0.942000	0.31987	0.921000	0.36526	0.265000	0.26407	1.133000	0.31430	0.986000	0.38683	0.460000	0.39030	ACC		0.587	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
TMEM55A	55529	broad.mit.edu	37	8	92007945	92007945	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:92007945C>T	ENST00000285419.3	-	7	1048	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	245						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCTTATGGCTCCCCAATAACA	0.438																																						uc003yes.2																			0					0						c.(733-735)GGA>GAA		transmembrane protein 55A							115.0	110.0	111.0					8																	92007945		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92007945C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.734G>A	8.37:g.92007945C>T	ENSP00000285419:p.Gly245Glu						p.G245E	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	960	-			245			Helical; (Potential).		B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.734G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715229	0.68844	.	.	ENSG00000155099	ENST00000285419	.	.	.	5.36	5.36	0.76844	.	0.049334	0.85682	D	0.000000	T	0.62454	0.2429	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62172	-0.6910	9	0.30078	T	0.28	-3.2485	19.4348	0.94786	0.0:1.0:0.0:0.0	.	245	Q8N4L2	TM55A_HUMAN	E	245	.	ENSP00000285419:G245E	G	-	2	0	TMEM55A	92077121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.663000	0.90544	0.650000	0.86243	GGA		0.438	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	
TRPS1	7227	broad.mit.edu	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T	rs549374718		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:116430676C>T	ENST00000220888.5	-	5	2825	c.2666G>A	c.(2665-2667)cGt>cAt	p.R889H	TRPS1_ENST00000519076.1_Missense_Mutation_p.R643H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R893H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001					uc003ynz.2																			0		p.R889C(1)		ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2665-2667)CGT>CAT		zinc finger transcription factor TRPS1							91.0	93.0	92.0					8																	116430676		1913	4124	6037	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116430676C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2666G>A	8.37:g.116430676C>T	ENSP00000220888:p.Arg889His					TRPS1_uc011lhy.1_Missense_Mutation_p.R893H|TRPS1_uc003yny.2_Missense_Mutation_p.R902H|TRPS1_uc010mcy.2_Missense_Mutation_p.R889H	p.R889H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3125	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		889					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2666G>A		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777453	0.70107	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99601	1.0978	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	902;889;643;893	ENSP00000379065:R902H;ENSP00000220888:R889H;ENSP00000428910:R643H;ENSP00000428680:R893H	ENSP00000220888:R889H	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
RANBP6	26953	broad.mit.edu	37	9	6012502	6012502	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:6012502T>G	ENST00000259569.5	-	1	3116	c.3106A>C	c.(3106-3108)Att>Ctt	p.I1036L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1036					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGACCAATTACAACTGGG	0.368																																						uc003zjr.2																			0				ovary(3)	3						c.(3106-3108)ATT>CTT		RAN binding protein 6							79.0	79.0	79.0					9																	6012502		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012502T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3106A>C	9.37:g.6012502T>G	ENSP00000259569:p.Ile1036Leu					RANBP6_uc011lmf.1_Missense_Mutation_p.I684L|RANBP6_uc003zjs.2_Missense_Mutation_p.I624L	p.I1036L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	3117	-		Acute lymphoblastic leukemia(23;0.158)	1036					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.3106A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	0.076	-1.192226	0.01607	.	.	ENSG00000137040	ENST00000259569	T	0.05925	3.37	4.79	0.549	0.17213	Armadillo-like helical (1);Armadillo-type fold (1);	0.063724	0.64402	N	0.000005	T	0.00967	0.0032	N	0.00075	-2.25	0.26451	N	0.975617	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46652	-0.9176	10	0.02654	T	1	-5.1597	7.2876	0.26348	0.0:0.3409:0.4169:0.2422	.	203;624;1036	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	1036	ENSP00000259569:I1036L	ENSP00000259569:I1036L	I	-	1	0	RANBP6	6002502	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.387000	0.44389	0.092000	0.17331	0.533000	0.62120	ATT		0.368	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
C9orf41	138199	broad.mit.edu	37	9	77631261	77631261	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:77631261T>G	ENST00000376834.3	-	3	665	c.513A>C	c.(511-513)gaA>gaC	p.E171D	RP11-197P3.5_ENST00000455336.2_RNA|C9orf41_ENST00000376837.3_Missense_Mutation_p.E171D	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTCCCAGTTTCACTCCAGT	0.353																																						uc004ajq.2																			0				ovary(1)|skin(1)	2						c.(511-513)GAA>GAC		hypothetical protein LOC138199							179.0	180.0	180.0					9																	77631261		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77631261T>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.513A>C	9.37:g.77631261T>G	ENSP00000366030:p.Glu171Asp					C9orf41_uc011lsi.1_RNA	p.E171D	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			3	666	-			171					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.513A>C	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421820	0.25639	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03860	3.78;3.78	5.99	2.09	0.27110	N2227-like (1);	0.092452	0.64402	D	0.000001	T	0.03434	0.0099	L	0.37561	1.115	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.43212	-0.9405	10	0.12103	T	0.63	-9.7528	4.8648	0.13602	0.126:0.2036:0.0:0.6704	.	171	Q8N4J0	CI041_HUMAN	D	171;171;110	ENSP00000366030:E171D;ENSP00000396353:E110D	ENSP00000366030:E171D	E	-	3	2	C9orf41	76821081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.547000	0.36190	0.477000	0.27464	0.533000	0.62120	GAA		0.353	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
TLE1	7088	broad.mit.edu	37	9	84200544	84200544	+	Silent	SNP	G	G	A	rs2229270		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:84200544G>A	ENST00000376499.3	-	18	3068	c.2004C>T	c.(2002-2004)acC>acT	p.T668T		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	668					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACTCCCCGGTGGGGCAGT	0.557																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2																			0				ovary(1)|skin(1)	2						c.(2002-2004)ACC>ACT		transducin-like enhancer protein 1							66.0	52.0	57.0					9																	84200544		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84200544G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2004C>T	9.37:g.84200544G>A						TLE1_uc004alz.2_Silent_p.T678T|TLE1_uc011lsr.1_Silent_p.T653T	p.T668T	NM_005077	NP_005068	Q04724	TLE1_HUMAN			18	2445	-			668					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.2004C>T	CCDS6661.1																																																																																				0.557	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	
NUTM2F	54754	broad.mit.edu	37	9	97081002	97081002	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:97081002G>T	ENST00000253262.4	-	7	2036	c.2016C>A	c.(2014-2016)ccC>ccA	p.P672P	NUTM2F_ENST00000341207.4_Silent_p.P657P|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	672																	GAGCTCCCTGGGGTCCTCTCC	0.607																																						uc004aup.1																			0					0						c.(2014-2016)CCC>CCA		hypothetical protein LOC54754							46.0	37.0	40.0					9																	97081002		1853	4088	5941	SO:0001819	synonymous_variant	54754							g.chr9:97081002G>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2016C>A	9.37:g.97081002G>T							p.P672P	NM_017561	NP_060031	A1L443	FA22F_HUMAN			7	2037	-		Acute lymphoblastic leukemia(62;0.136)	672					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.2016C>A	CCDS47994.1																																																																																				0.607	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
NUTM2G	441457	broad.mit.edu	37	9	99694201	99694201	+	Missense_Mutation	SNP	G	G	A	rs370086124	byFrequency	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:99694201G>A	ENST00000372322.3	+	2	235	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	NUTM2G_ENST00000354649.3_Missense_Mutation_p.G72S|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	72																	GGATGGCCGCGGCCCAAGTGG	0.642													.|||	4	0.000798722	0.0	0.0	5008	,	,		14915	0.0		0.0	False		,,,				2504	0.0041					uc004awq.1																			0				skin(1)	1						c.(214-216)GGC>AGC		hypothetical protein LOC441457		G	SER/GLY,SER/GLY	0,3714		0,0,1857	21.0	27.0	25.0		214,214	0.0	0.0	9		25	2,8178		0,2,4088	no	missense,missense	FAM22G	NM_001170741.1,NM_001045477.2	56,56	0,2,5945	AA,AG,GG		0.0244,0.0,0.0168	benign,benign	72/742,72/493	99694201	2,11892	1857	4090	5947	SO:0001583	missense	441457							g.chr9:99694201G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.214G>A	9.37:g.99694201G>A	ENSP00000361397:p.Gly72Ser						p.G72S	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			2	929	+		Acute lymphoblastic leukemia(62;0.0527)	72					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.214G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	8.737	0.918034	0.17982	0.0	2.44E-4	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.24538	1.85;1.85	1.03	0.0308	0.14168	.	.	.	.	.	T	0.17619	0.0423	L	0.39898	1.24	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.26883	-1.0090	9	0.49607	T	0.09	.	3.5206	0.07740	0.2887:0.0:0.7113:0.0	.	72	Q5VZR2-2	.	S	72	ENSP00000346670:G72S;ENSP00000361397:G72S	ENSP00000346670:G72S	G	+	1	0	FAM22G	98734022	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.078000	0.11375	0.018000	0.15052	0.479000	0.44913	GGC		0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	
ZBED1	9189	broad.mit.edu	37	X	2407889	2407889	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:2407889A>G	ENST00000381223.4	-	2	1075	c.872T>C	c.(871-873)cTg>cCg	p.L291P	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.L291P|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.L291P	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	291					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGCCCAGGCAGGGCAT	0.647																																						uc004cqg.2																			0					0						c.(871-873)CTG>CCG		zinc finger, BED-type containing 1							101.0	96.0	98.0					X																	2407889		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407889A>G	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.872T>C	X.37:g.2407889A>G	ENSP00000370621:p.Leu291Pro					DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.L291P	p.L291P	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	1073	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	291					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.872T>C	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.730343	0.30684	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22945	1.93;1.93;1.93	3.19	3.19	0.36642	Ribonuclease H-like (1);	0.114485	0.35151	N	0.003415	T	0.44008	0.1273	.	.	.	0.20489	N	0.999894	D	0.76494	0.999	D	0.83275	0.996	T	0.18398	-1.0338	9	0.36615	T	0.2	-31.2606	10.991	0.47549	1.0:0.0:0.0:0.0	.	291	O96006	ZBED1_HUMAN	P	291	ENSP00000370621:L291P;ENSP00000370620:L291P;ENSP00000370616:L291P	ENSP00000370616:L291P	L	-	2	0	ZBED1	2417889	1.000000	0.71417	0.654000	0.29608	0.158000	0.22134	6.612000	0.74187	1.003000	0.39130	0.419000	0.28159	CTG		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729	
ARX	170302	broad.mit.edu	37	X	25031255	25031255	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:25031255C>G	ENST00000379044.4	-	2	1067	c.857G>C	c.(856-858)gGc>gCc	p.G286A		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	286			G -> S (in MRXARX; dbSNP:rs28935479). {ECO:0000269|PubMed:11971879}.		axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CAGCTCCCCGCCCTCTGTGGC	0.726																																						uc004dbp.3																			0					0						c.(856-858)GGC>GCC		aristaless related homeobox							14.0	12.0	13.0					X																	25031255		2194	4279	6473	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031255C>G	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.857G>C	X.37:g.25031255C>G	ENSP00000368332:p.Gly286Ala						p.G286A	NM_139058	NP_620689	Q96QS3	ARX_HUMAN			2	1068	-			286						Missense_Mutation	SNP	ENST00000379044.4	37	c.857G>C	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.500695	0.26861	.	.	ENSG00000004848	ENST00000379044	D	0.94280	-3.39	3.83	2.88	0.33553	.	0.198483	0.41938	D	0.000793	T	0.79347	0.4430	N	0.02539	-0.55	0.30571	N	0.763455	B	0.12013	0.005	B	0.09377	0.004	T	0.73129	-0.4080	10	0.32370	T	0.25	.	6.2261	0.20708	0.0:0.7042:0.1867:0.1092	.	286	Q96QS3	ARX_HUMAN	A	286	ENSP00000368332:G286A	ENSP00000368332:G286A	G	-	2	0	ARX	24941176	.	.	1.000000	0.80357	0.370000	0.29829	.	.	1.518000	0.48934	0.141000	0.15989	GGC		0.726	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1		
DMD	1756	broad.mit.edu	37	X	32305784	32305784	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:32305784C>T	ENST00000357033.4	-	43	6358	c.6152G>A	c.(6151-6153)cGg>cAg	p.R2051Q	DMD_ENST00000378677.2_Missense_Mutation_p.R2047Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCAATCCGACCTGAGCT	0.348																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6151-6153)CGG>CAG		dystrophin Dp427m isoform							87.0	67.0	74.0					X																	32305784		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305784C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6152G>A	X.37:g.32305784C>T	ENSP00000354923:p.Arg2051Gln					DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.R2051Q	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6396	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2051			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6152G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	0.135	-1.108576	0.01813	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52295	0.67;0.67	4.36	2.56	0.30785	.	0.276929	0.19581	U	0.110869	T	0.14743	0.0356	N	0.01242	-0.935	0.80722	D	1	B;B;B;B;B	0.14805	0.005;0.011;0.007;0.004;0.004	B;B;B;B;B	0.09377	0.002;0.004;0.003;0.002;0.001	T	0.05402	-1.0887	10	0.12766	T	0.61	.	4.3568	0.11183	0.0:0.4652:0.0:0.5348	.	2043;2051;2047;710;707	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	2043;710;707;2047;2051;2051;1928	ENSP00000367948:R2047Q;ENSP00000354923:R2051Q	ENSP00000354923:R2051Q	R	-	2	0	DMD	32215705	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	1.501000	0.35693	0.950000	0.37743	0.600000	0.82982	CGG		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
RBM3	5935	broad.mit.edu	37	X	48433596	48433596	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:48433596G>C	ENST00000376759.3	+	2	91	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L	AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000376755.1_Missense_Mutation_p.V10L|RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_5'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dkf.1																			0				ovary(1)	1						c.(28-30)GTG>CTG		RNA binding motif protein 3							76.0	55.0	62.0					X																	48433596		2203	4300	6503	SO:0001583	missense	5935				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding	g.chrX:48433596G>C	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.28G>C	X.37:g.48433596G>C	ENSP00000365950:p.Val10Leu		OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Missense_Mutation_p.V10L	p.V10L	NM_006743	NP_006734	P98179	RBM3_HUMAN			2	167	+			10			RRM.			Missense_Mutation	SNP	ENST00000376759.3	37	c.28G>C	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050877	0.55218	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.33654	1.4;1.4	4.74	3.87	0.44632	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111340	0.37053	U	0.002276	T	0.45236	0.1332	M	0.79011	2.435	0.80722	D	1	B	0.31949	0.348	B	0.40410	0.328	T	0.47849	-0.9085	10	0.62326	D	0.03	-1.2767	10.2389	0.43299	0.1008:0.0:0.8992:0.0	.	10	P98179	RBM3_HUMAN	L	10	ENSP00000365950:V10L;ENSP00000365946:V10L	ENSP00000365946:V10L	V	+	1	0	RBM3	48318540	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	4.588000	0.60999	1.097000	0.41459	0.513000	0.50165	GTG		0.502	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743	
CLCN5	1184	broad.mit.edu	37	X	49851112	49851112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:49851112delA	ENST00000307367.2	+	8	1223	c.932delA	c.(931-933)cacfs	p.H311fs	CLCN5_ENST00000376108.3_Frame_Shift_Del_p.H311fs|CLCN5_ENST00000376091.3_Frame_Shift_Del_p.H381fs|CLCN5_ENST00000376088.3_Frame_Shift_Del_p.H381fs			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	311					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGGAGTTTCACACCCCATGG	0.498																																						uc004dos.1																			0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(931-933)CACfs		chloride channel 5 isoform b							100.0	76.0	84.0					X																	49851112		2203	4300	6503	SO:0001589	frameshift_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851112delA	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.932delA	X.37:g.49851112delA	ENSP00000304257:p.His311fs					CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	p.H311fs	NM_000084	NP_000075	P51795	CLCN5_HUMAN			8	1180	+	Ovarian(276;0.236)		311					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Frame_Shift_Del	DEL	ENST00000307367.2	37	c.932delA	CCDS14328.1																																																																																				0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
USP51	158880	broad.mit.edu	37	X	55513943	55513943	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:55513943G>A	ENST00000500968.3	-	2	1512	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	477	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ACAGCAGTTGGGGTTATTGGC	0.478																																						uc004dun.1																			0				ovary(1)|lung(1)|breast(1)	3						c.(1429-1431)CCC>CTC		ubiquitin specific protease 51							151.0	112.0	126.0					X																	55513943		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513943G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1430C>T	X.37:g.55513943G>A	ENSP00000423333:p.Pro477Leu					USP51_uc011moo.1_Missense_Mutation_p.P181L	p.P477L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1509	-			477					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1430C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	6.878	0.531355	0.13127	.	.	ENSG00000247746	ENST00000500968	T	0.28454	1.61	3.04	2.17	0.27698	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.608492	0.17242	U	0.181518	T	0.27027	0.0662	L	0.56340	1.77	0.58432	D	0.999997	B	0.20459	0.045	B	0.23852	0.049	T	0.05920	-1.0856	10	0.38643	T	0.18	.	7.6254	0.28210	0.1388:0.0:0.8612:0.0	.	477	Q70EK9	UBP51_HUMAN	L	477	ENSP00000423333:P477L	ENSP00000423333:P477L	P	-	2	0	USP51	55530668	1.000000	0.71417	0.753000	0.31225	0.804000	0.45430	4.327000	0.59247	0.683000	0.31428	0.508000	0.49915	CCC		0.478	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
NRK	203447	broad.mit.edu	37	X	105159747	105159747	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:105159747C>T	ENST00000243300.9	+	15	2678	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	NRK_ENST00000428173.2_Missense_Mutation_p.P793L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	792					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTTCTGTGCCTAACAACCAG	0.313										HNSCC(51;0.14)																												uc004emd.2																			0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(2374-2376)CCT>CTT		Nik related kinase							126.0	110.0	115.0					X																	105159747		1861	4075	5936	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105159747C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2375C>T	X.37:g.105159747C>T	ENSP00000434830:p.Pro792Leu	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P460L	p.P792L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			15	2678	+			792					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2375C>T		.	.	.	.	.	.	.	.	.	.	C	11.20	1.567621	0.28003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	D;D	0.87809	-2.29;-2.3	5.09	2.84	0.33178	.	0.000000	0.43747	D	0.000537	T	0.73923	0.3649	N	0.14661	0.345	0.09310	N	1	P;B	0.46784	0.884;0.421	B;B	0.42916	0.402;0.039	T	0.67960	-0.5535	10	0.87932	D	0	.	3.6439	0.08177	0.0:0.5787:0.2451:0.1762	.	460;792	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	792;793	ENSP00000434830:P792L;ENSP00000438378:P793L	ENSP00000434830:P792L	P	+	2	0	NRK	105046403	0.284000	0.24287	0.345000	0.25642	0.069000	0.16628	2.050000	0.41297	0.998000	0.38996	0.594000	0.82650	CCT		0.313	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592																																						uc004epq.2																			0					0						c.(205-207)CGC>TGC		lipoma HMGIC fusion partner-like 1 precursor							141.0	125.0	130.0					X																	111914414		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914414G>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.205C>T	X.37:g.111914414G>A	ENSP00000361036:p.Arg69Cys					LHFPL1_uc004epp.2_Missense_Mutation_p.R92C|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.R69C	p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN			2	538	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.205C>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861972	0.71949	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73152	-0.72;-0.72	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83944	0.0313	10	0.49607	T	0.09	-29.645	10.2057	0.43112	0.0:0.0:0.8026:0.1974	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	69	ENSP00000361036:R69C;ENSP00000444573:R69C	ENSP00000361036:R69C	R	-	1	0	LHFPL1	111801070	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.553000	0.53713	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175	
HTR2C	3358	broad.mit.edu	37	X	114082719	114082719	+	Missense_Mutation	SNP	G	G	A	rs376838998		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:114082719G>A	ENST00000276198.1	+	5	1231	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HTR2C_ENST00000371951.1_Missense_Mutation_p.R168Q|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	168					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R168Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCAATTCGCGGACTAAGGCC	0.408																																						uc004epu.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(3)	3						c.(502-504)CGG>CAG		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						125.0	105.0	112.0					X																	114082719		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082719G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.503G>A	X.37:g.114082719G>A	ENSP00000276198:p.Arg168Gln					HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	p.R168Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN			5	1231	+			168			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.503G>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468007	0.84533	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.72282	-0.64;-0.64	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.81163	0.4765	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.79621	-0.1727	10	0.28530	T	0.3	.	13.6882	0.62529	0.0:0.0:1.0:0.0	.	168	P28335	5HT2C_HUMAN	Q	168	ENSP00000276198:R168Q;ENSP00000361019:R168Q	ENSP00000276198:R168Q	R	+	2	0	HTR2C	113988975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.584000	0.67490	1.793000	0.52555	0.600000	0.82982	CGG		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
MAGEC3	139081	broad.mit.edu	37	X	140985023	140985023	+	Silent	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:140985023T>C	ENST00000298296.1	+	7	1479	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	MAGEC3_ENST00000409007.1_Silent_p.Y195Y|MAGEC3_ENST00000536088.1_Silent_p.Y195Y|MAGEC3_ENST00000544766.1_Silent_p.Y195Y|MAGEC3_ENST00000443323.2_Silent_p.Y115Y	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	493	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGGACTATTTTCCCATGA	0.438																																						uc011mwp.1																			0				skin(2)|central_nervous_system(1)	3						c.(1477-1479)TAT>TAC		melanoma antigen family C, 3 isoform 1							130.0	126.0	127.0					X																	140985023		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985023T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1479T>C	X.37:g.140985023T>C						MAGEC3_uc004fbs.2_Silent_p.Y195Y|MAGEC3_uc010nsj.2_Silent_p.Y195Y	p.Y493Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1479	+	Acute lymphoblastic leukemia(192;6.56e-05)		493			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1479T>C	CCDS14676.1																																																																																				0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
MTMR1	8776	broad.mit.edu	37	X	149924177	149924177	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:149924177C>T	ENST00000370390.3	+	14	1830	c.1673C>T	c.(1672-1674)aCg>aTg	p.T558M	MTMR1_ENST00000445323.2_Missense_Mutation_p.T566M|MTMR1_ENST00000544228.1_Missense_Mutation_p.T558M|MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000541925.1_Missense_Mutation_p.T464M	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	558	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)					TATACAAAGACGATATCTTTA	0.323																																						uc004fei.2																			0				ovary(1)	1						c.(1672-1674)ACG>ATG		myotubularin-related protein 1							105.0	94.0	98.0					X																	149924177		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924177C>T	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.1673C>T	X.37:g.149924177C>T	ENSP00000359417:p.Thr558Met					MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004feh.1_Missense_Mutation_p.T566M|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	p.T558M	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			14	1808	+	Acute lymphoblastic leukemia(192;6.56e-05)		558			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1673C>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338433	0.60963	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	0.043517	0.85682	D	0.000000	D	0.97458	0.9168	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.98660	1.0683	10	0.87932	D	0	.	18.4259	0.90608	0.0:1.0:0.0:0.0	.	558;566	Q13613;F8WA39	MTMR1_HUMAN;.	M	464;558;566;558	ENSP00000441879:T464M;ENSP00000359417:T558M;ENSP00000414178:T566M;ENSP00000440534:T558M	ENSP00000359417:T558M	T	+	2	0	MTMR1	149674835	1.000000	0.71417	0.544000	0.28141	0.391000	0.30476	5.717000	0.68446	2.292000	0.77174	0.600000	0.82982	ACG		0.323	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
FAM3A	60343	broad.mit.edu	37	X	153736149	153736149	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:153736149C>A	ENST00000447601.2	-	6	844	c.378G>T	c.(376-378)tgG>tgT	p.W126C	FAM3A_ENST00000369641.3_Missense_Mutation_p.W133C|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000369643.1_Missense_Mutation_p.W126C|FAM3A_ENST00000434658.2_Intron|FAM3A_ENST00000359889.5_Missense_Mutation_p.W126C|FAM3A_ENST00000393572.1_Missense_Mutation_p.W88C	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	126						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTCCGGCCCACATGTCAA	0.627																																						uc004fls.1																			0				large_intestine(1)	1						c.(376-378)TGG>TGT		family 3, member A protein precursor							15.0	12.0	13.0					X																	153736149		2181	4282	6463	SO:0001583	missense	60343					extracellular region		g.chrX:153736149C>A	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.378G>T	X.37:g.153736149C>A	ENSP00000416146:p.Trp126Cys					FAM3A_uc004flt.1_Missense_Mutation_p.W140C|FAM3A_uc011mzp.1_Intron|FAM3A_uc004flu.1_Intron|FAM3A_uc011mzq.1_Missense_Mutation_p.W126C|FAM3A_uc004flw.1_Missense_Mutation_p.W126C	p.W126C	NM_021806	NP_068578	P98173	FAM3A_HUMAN			6	655	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		126					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	c.378G>T	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312361	0.60414	.	.	ENSG00000071889	ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266	T;T;T;T;T;T	0.58652	0.61;0.61;0.61;1.89;0.32;1.83	5.19	5.19	0.71726	.	0.117609	0.64402	D	0.000007	T	0.64516	0.2605	M	0.80183	2.485	0.80722	D	1	B;B	0.20887	0.04;0.049	B;B	0.28232	0.06;0.087	T	0.66602	-0.5882	10	0.72032	D	0.01	-18.194	16.5103	0.84282	0.0:1.0:0.0:0.0	.	140;126	D3DWX8;P98173	.;FAM3A_HUMAN	C	126;126;126;133;88;133	ENSP00000352955:W126C;ENSP00000358657:W126C;ENSP00000416146:W126C;ENSP00000358655:W133C;ENSP00000377202:W88C;ENSP00000396845:W133C	ENSP00000352955:W126C	W	-	3	0	FAM3A	153389343	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.667000	0.68067	2.154000	0.67381	0.529000	0.55759	TGG		0.627	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2		
