#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
APITD1	378708	broad.mit.edu	37	1	10494001	10494001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:10494001G>A	ENST00000309048.3	+	2	229	c.154G>A	c.(154-156)Gag>Aag	p.E52K	APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.E52K|APITD1_ENST00000602787.1_Missense_Mutation_p.E52K|APITD1_ENST00000602296.1_Missense_Mutation_p.E52K|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.E52K	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	52					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGCCATTTCGGAGCTGACTTT	0.522																																						uc001are.2		NA																	0				ovary(1)	1						c.(154-156)GAG>AAG		apoptosis-inducing, TAF9-like domain 1 isoform							131.0	125.0	127.0					1																	10494001		2203	4300	6503	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10494001G>A	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.154G>A	1.37:g.10494001G>A	ENSP00000308583:p.Glu52Lys					APITD1_uc001arf.2_Missense_Mutation_p.E52K|APITD1_uc001arg.2_Missense_Mutation_p.G131E|APITD1_uc001arh.2_Missense_Mutation_p.E13K	p.E52K	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	2	570	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	52					Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	c.154G>A	CCDS115.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562797	0.86335	.	.	ENSG00000175279;ENSG00000175279;ENSG00000175279;ENSG00000251503;ENSG00000251503	ENST00000556104;ENST00000556817;ENST00000309048;ENST00000400900;ENST00000470413	.	.	.	5.95	5.04	0.67666	Histone-fold (2);	0.000000	0.85682	D	0.000000	D	0.84293	0.5440	M	0.90483	3.12	0.45066	D	0.998088	D;D	0.89917	0.998;1.0	D;D	0.97110	0.955;1.0	D	0.87429	0.2387	9	0.72032	D	0.01	-20.4827	13.6566	0.62341	0.0744:0.0:0.9256:0.0	.	52;52	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	K	52	.	ENSP00000383692:E52K	E	+	1	0	APITD1-CORT;APITD1	10416588	1.000000	0.71417	0.763000	0.31416	0.791000	0.44710	7.731000	0.84895	1.527000	0.49086	0.655000	0.94253	GAG		0.522	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		43	125	0	0	0	0	43	125				
TAS1R2	80834	broad.mit.edu	37	1	19166514	19166514	+	Missense_Mutation	SNP	G	G	A	rs149445409		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:19166514G>A	ENST00000375371.3	-	6	2120	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	700					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTGAGGCCCGTGGCCAGCAT	0.562																																						uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2098-2100)ACG>ATG		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)	G	MET/THR	0,4406		0,0,2203	128.0	134.0	132.0		2099	-1.2	0.0	1	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS1R2	NM_152232.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	700/840	19166514	1,13005	2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166514G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2099C>T	1.37:g.19166514G>A	ENSP00000364520:p.Thr700Met						p.T700M	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2100	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	700			Helical; Name=4; (Potential).		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2099C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	4.107	0.017871	0.07959	0.0	1.16E-4	ENSG00000179002	ENST00000375371	D	0.87887	-2.31	4.85	-1.2	0.09554	GPCR, family 3, C-terminal (2);	0.520751	0.16366	N	0.217530	D	0.83644	0.5299	M	0.85710	2.77	0.09310	N	1	P	0.43169	0.8	B	0.40444	0.329	T	0.74441	-0.3664	10	0.44086	T	0.13	.	1.8823	0.03231	0.2745:0.1379:0.4467:0.1408	.	700	Q8TE23	TS1R2_HUMAN	M	700	ENSP00000364520:T700M	ENSP00000364520:T700M	T	-	2	0	TAS1R2	19039101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.810000	0.04505	0.113000	0.18004	-0.314000	0.08810	ACG		0.562	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			40	77	0	0	0	0	40	77				
PLPPR4	9890	broad.mit.edu	37	1	99771647	99771647	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:99771647G>A	ENST00000370185.3	+	7	1870	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.R300Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R400Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		458					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R458Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAAAGTCGAAAGTTGTCC	0.493																																						uc001dse.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(1372-1374)CGA>CAA		plasticity related gene 1							71.0	70.0	71.0					1																	99771647		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771647G>A																												ENST00000370185.3:c.1373G>A	1.37:g.99771647G>A	ENSP00000359204:p.Arg458Gln					LPPR4_uc010oue.1_Missense_Mutation_p.R400Q	p.R458Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1479	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	458					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1373G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858871	0.51376	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.30448	2.08;1.97;1.53	5.5	5.5	0.81552	.	0.107611	0.64402	D	0.000005	T	0.29556	0.0737	L	0.58810	1.83	0.58432	D	0.999991	D;D	0.57899	0.981;0.964	P;B	0.47044	0.535;0.248	T	0.02282	-1.1183	9	.	.	.	-18.2466	19.3904	0.94578	0.0:0.0:1.0:0.0	.	400;458	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	458;400;458;300	ENSP00000359204:R458Q;ENSP00000394913:R400Q;ENSP00000359203:R300Q	.	R	+	2	0	RP4-788L13.1	99544235	1.000000	0.71417	0.290000	0.24890	0.837000	0.47467	5.975000	0.70475	2.575000	0.86900	0.650000	0.86243	CGA		0.493	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			27	67	0	0	0	0	27	67				
CDC14A	8556	broad.mit.edu	37	1	100819350	100819350	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:100819350C>A	ENST00000336454.3	+	2	437	c.82C>A	c.(82-84)Cca>Aca	p.P28T	CDC14A_ENST00000370124.3_Missense_Mutation_p.P28T|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.P28T|CDC14A_ENST00000361544.6_Missense_Mutation_p.P28T|CDC14A_ENST00000370125.2_Missense_Mutation_p.P28T	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	28	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAGGAATAGACCAAAAAGCAC	0.358																																						uc001dtg.3		NA																	0				large_intestine(1)	1						c.(82-84)CCA>ACA		CDC14 homolog A isoform 1							126.0	111.0	116.0					1																	100819350		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100819350C>A	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.82C>A	1.37:g.100819350C>A	ENSP00000336739:p.Pro28Thr					CDC14A_uc009web.2_Intron|CDC14A_uc010oui.1_5'UTR|CDC14A_uc001dte.3_Missense_Mutation_p.P28T|CDC14A_uc001dtf.2_Missense_Mutation_p.P28T|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.P28T|CDC14A_uc009wec.1_Missense_Mutation_p.P28T	p.P28T	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	2	570	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	28			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.82C>A	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505386	0.85282	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.89904	3.07	0.80722	D	1	D;D;D;D;P	0.63046	0.991;0.965;0.986;0.992;0.941	D;P;P;D;P	0.65684	0.921;0.784;0.867;0.937;0.614	T	0.76637	-0.2886	10	0.72032	D	0.01	-10.8073	16.9976	0.86372	0.0:1.0:0.0:0.0	.	28;28;28;28;28	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	T	29;28;28;28;28;28	ENSP00000388501:P29T;ENSP00000359143:P28T;ENSP00000354916:P28T;ENSP00000359142:P28T;ENSP00000336739:P28T;ENSP00000442543:P28T	ENSP00000336739:P28T	P	+	1	0	CDC14A	100591938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.652000	0.74377	2.399000	0.81585	0.555000	0.69702	CCA		0.358	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		7	23	1	0	0.000274275	0.00107507	7	23				
AXDND1	126859	broad.mit.edu	37	1	179401427	179401427	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:179401427A>C	ENST00000367618.3	+	15	1900	c.1513A>C	c.(1513-1515)Aag>Cag	p.K505Q	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.K505Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	505										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATCCCCTAATAAGGGAAATAT	0.308																																						uc001gmo.2		NA																	0					0						c.(1513-1515)AAG>CAG		hypothetical protein LOC126859 isoform 1							23.0	24.0	24.0					1																	179401427		2196	4292	6488	SO:0001583	missense	126859							g.chr1:179401427A>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1513A>C	1.37:g.179401427A>C	ENSP00000356590:p.Lys505Gln					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.K293Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K505Q	p.K505Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			15	1640	+			505					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1513A>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021766	0.35701	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.49432	2.06;0.78;2.1	5.02	1.24	0.21308	.	0.724161	0.13895	N	0.355326	T	0.54695	0.1874	L	0.55834	1.745	0.09310	N	1	P;D;D	0.69078	0.9;0.997;0.985	P;D;P	0.63488	0.461;0.915;0.775	T	0.40346	-0.9568	10	0.41790	T	0.15	-13.6017	5.9611	0.19301	0.6656:0.2453:0.0892:0.0	.	463;505;505	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	505;463;505;439	ENSP00000356590:K505Q;ENSP00000416712:K505Q;ENSP00000391716:K439Q	ENSP00000353471:K463Q	K	+	1	0	AXDND1	177668050	0.283000	0.24277	0.001000	0.08648	0.023000	0.10783	1.756000	0.38390	0.012000	0.14892	0.482000	0.46254	AAG		0.308	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	11	0	0	0	0	4	11				
RGS2	5997	broad.mit.edu	37	1	192780144	192780144	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:192780144C>T	ENST00000235382.5	+	4	339	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	103	Necessary to inhibit protein synthesis.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TTTTTAAAGTCGGAATTCTGT	0.398																																					Pancreas(71;51 2183 4981)	uc001gsl.2		NA																	0					0						c.(307-309)TCG>TTG		regulator of G-protein signaling 2							105.0	110.0	109.0					1																	192780144		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192780144C>T	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.308C>T	1.37:g.192780144C>T	ENSP00000235382:p.Ser103Leu						p.S103L	NM_002923	NP_002914	P41220	RGS2_HUMAN			4	341	+			103			RGS.|Necessary to inhibit protein synthesis.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.308C>T	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986579	0.93106	.	.	ENSG00000116741	ENST00000235382	T	0.65732	-0.17	5.27	5.27	0.74061	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.049859	0.85682	D	0.000000	D	0.83220	0.5207	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86920	0.2066	10	0.87932	D	0	.	17.461	0.87620	0.0:1.0:0.0:0.0	.	103	P41220	RGS2_HUMAN	L	103	ENSP00000235382:S103L	ENSP00000235382:S103L	S	+	2	0	RGS2	191046767	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.453000	0.82957	0.563000	0.77884	TCG		0.398	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		36	88	0	0	0	0	36	88				
PFKFB2	5208	broad.mit.edu	37	1	207240960	207240960	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:207240960G>A	ENST00000367080.3	+	9	873	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R217H|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R64H|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R152H|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R250H	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	250	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GTCCAGCCTCGCACCATTTAC	0.507																																						uc001hfg.2		NA																	0				ovary(1)	1						c.(748-750)CGC>CAC		6-phosphofructo-2-kinase/fructose-2,							139.0	132.0	135.0					1																	207240960		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207240960G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.749G>A	1.37:g.207240960G>A	ENSP00000356047:p.Arg250His					PFKFB2_uc010psc.1_Missense_Mutation_p.R152H|PFKFB2_uc001hfh.2_Missense_Mutation_p.R250H|PFKFB2_uc009xcc.2_Missense_Mutation_p.R208H|PFKFB2_uc010psd.1_Missense_Mutation_p.R64H	p.R250H	NM_006212	NP_006203	O60825	F262_HUMAN			9	858	+	Prostate(682;0.19)		250			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.749G>A	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970209	0.74246	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	.	.	.	5.95	5.95	0.96441	.	0.044630	0.85682	D	0.000000	T	0.53222	0.1783	L	0.45137	1.4	0.58432	D	0.999999	D;D;B;P	0.61697	0.99;0.99;0.139;0.932	B;B;B;B	0.40602	0.334;0.289;0.017;0.1	T	0.59637	-0.7417	9	0.66056	D	0.02	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	64;152;250;250	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	H	152;250;250;217;64	.	ENSP00000356046:R250H	R	+	2	0	PFKFB2	205307583	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.533000	0.81994	2.824000	0.97209	0.655000	0.94253	CGC		0.507	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			50	114	0	0	0	0	50	114				
KCNK2	3776	broad.mit.edu	37	1	215408401	215408401	+	Silent	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:215408401C>T	ENST00000444842.2	+	7	1344	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	KCNK2_ENST00000391895.2_Silent_p.P394P|KCNK2_ENST00000391894.2_Silent_p.P383P	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	398	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TCTTGCCTCCCTTACTGAAGA	0.493																																						uc001hkq.2		NA																	0					0						c.(1192-1194)CCC>CCT		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						130.0	126.0	127.0					1																	215408401		2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215408401C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1194C>T	1.37:g.215408401C>T						KCNK2_uc001hko.2_Silent_p.P394P|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Silent_p.P383P	p.P398P	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1363	+			398			Cytoplasmic (Potential).|Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.1194C>T	CCDS41467.1																																																																																				0.493	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		17	37	0	0	0	0	17	37				
DISC1	27185	broad.mit.edu	37	1	231830106	231830106	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:231830106G>T	ENST00000602281.1	+	2	655	c.602G>T	c.(601-603)gGc>gTc	p.G201V	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.G201V|DISC1_ENST00000317586.4_Missense_Mutation_p.G201V|DISC1_ENST00000439617.2_Missense_Mutation_p.G201V|DISC1_ENST00000537876.1_Missense_Mutation_p.G201V|DISC1_ENST00000539444.1_Missense_Mutation_p.G201V|DISC1_ENST00000366636.4_Missense_Mutation_p.G201V|DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.G201V	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	201	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACCCCTCCTGGCTCTCACAGT	0.612																																						uc001huz.2		NA																	0				skin(1)	1						c.(601-603)GGC>GTC		disrupted in schizophrenia 1 isoform L							61.0	58.0	59.0					1																	231830106		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830106G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.602G>T	1.37:g.231830106G>T	ENSP00000473425:p.Gly201Val					TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.G201V|DISC1_uc010pwp.1_Missense_Mutation_p.G201V|DISC1_uc010pwq.1_Missense_Mutation_p.G201V|DISC1_uc010pwr.1_Missense_Mutation_p.G201V|DISC1_uc010pws.1_Missense_Mutation_p.G201V|DISC1_uc010pwt.1_Missense_Mutation_p.G201V|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.G201V|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.G201V|DISC1_uc010pxb.1_Missense_Mutation_p.G201V|DISC1_uc010pxc.1_Missense_Mutation_p.G201V|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.G201V|DISC1_uc009xfr.2_Missense_Mutation_p.G156V|DISC1_uc010pxf.1_Missense_Mutation_p.G201V|DISC1_uc010pxg.1_Missense_Mutation_p.G201V|DISC1_uc010pxh.1_Missense_Mutation_p.G201V|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.G201V|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.G201V|DISC1_uc010pwm.1_Missense_Mutation_p.G201V|DISC1_uc001hux.1_Missense_Mutation_p.G201V|DISC1_uc001hvc.3_Missense_Mutation_p.G201V|DISC1_uc010pwn.1_Missense_Mutation_p.G201V	p.G201V	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	655	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	201			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.602G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.554754	0.27739	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.61	-0.769	0.11009	.	1.292600	0.04583	N	0.395222	T	0.42562	0.1208	L	0.58101	1.795	0.09310	N	0.999996	B;P;B;D;P;P;P;P;P;P;P;D;D;P;P;P;P;P;P;P;P	0.89917	0.352;0.687;0.379;1.0;0.521;0.552;0.521;0.521;0.521;0.521;0.524;0.992;0.999;0.687;0.521;0.521;0.865;0.521;0.521;0.687;0.524	B;B;B;D;B;B;B;B;B;B;B;P;D;B;B;B;B;B;B;B;B	0.72075	0.099;0.391;0.111;0.97;0.158;0.3;0.256;0.256;0.158;0.256;0.322;0.894;0.976;0.391;0.158;0.158;0.391;0.158;0.158;0.259;0.322	T	0.24190	-1.0167	10	0.87932	D	0	0.0026	3.5227	0.07748	0.2553:0.0:0.4467:0.2979	.	201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201;201	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	V	201;201;201;201;201;201;201;201;201;201;201;201;52	ENSP00000403888:G201V;ENSP00000320784:G201V;ENSP00000355596:G201V;ENSP00000443996:G201V;ENSP00000440909:G201V;ENSP00000355593:G201V;ENSP00000440953:G201V;ENSP00000295051:G201V;ENSP00000441193:G201V	ENSP00000295051:G201V	G	+	2	0	DISC1	229896729	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.467000	0.22035	-0.337000	0.08426	-0.215000	0.12644	GGC		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		9	66	1	0	7.48e-07	3.02e-06	9	66				
RGS7	6000	broad.mit.edu	37	1	240939491	240939491	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:240939491C>T	ENST00000366565.1	-	18	1817	c.1436G>A	c.(1435-1437)aGg>aAg	p.R479K	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.R461K|RGS7_ENST00000366564.1_Missense_Mutation_p.R461K|RGS7_ENST00000366563.1_3'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCTTGTTAACCTCTTGGACGT	0.403																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1435-1437)AGG>AAG		regulator of G-protein signaling 7							124.0	111.0	116.0					1																	240939491		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240939491C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.1436G>A	1.37:g.240939491C>T	ENSP00000355523:p.Arg479Lys					RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_3'UTR|RGS7_uc001hyu.2_3'UTR|RGS7_uc009xgn.1_3'UTR|RGS7_uc001hyw.2_Missense_Mutation_p.R461K|RGS7_uc010pyi.1_RNA|RGS7_uc001hyt.2_3'UTR	p.R479K	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		18	1766	-		all_cancers(173;0.0131)	Error:Variant_position_missing_in_P49802_after_alignment					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000366565.1	37	c.1436G>A	CCDS31071.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966739	0.53507	.	.	ENSG00000182901	ENST00000366565;ENST00000366564;ENST00000366562	T;T;T	0.30182	1.54;1.57;1.57	5.35	5.35	0.76521	.	0.816568	0.11043	N	0.605826	T	0.32793	0.0841	.	.	.	0.80722	D	1	B;P	0.42871	0.167;0.792	B;B	0.39027	0.138;0.288	T	0.19160	-1.0314	9	0.56958	D	0.05	.	16.2199	0.82254	0.0:1.0:0.0:0.0	.	461;479	P49802-2;P49802-5	.;.	K	479;461;461	ENSP00000355523:R479K;ENSP00000355522:R461K;ENSP00000355520:R461K	ENSP00000355520:R461K	R	-	2	0	RGS7	239006114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.521000	0.84997	0.484000	0.47621	AGG		0.403	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096719.3	NM_002924		4	55	0	0	0	0	4	55				
RASGEF1A	221002	broad.mit.edu	37	10	43692516	43692516	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr10:43692516T>C	ENST00000395809.1	-	11	3762	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E427G|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E419G			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	419	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TGTCATGAACTCATGGATCTG	0.517																																						uc001jap.1		NA																	0					0						c.(1255-1257)GAG>GGG		RasGEF domain family, member 1A							170.0	144.0	153.0					10																	43692516		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43692516T>C	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1256A>G	10.37:g.43692516T>C	ENSP00000379154:p.Glu419Gly					RASGEF1A_uc001jao.1_Missense_Mutation_p.E427G	p.E419G	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			11	1337	-			419			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1256A>G	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797964	0.90538	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.33865	1.39;1.39;1.39	4.97	4.97	0.65823	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.147362	0.45606	D	0.000344	T	0.50377	0.1612	M	0.77820	2.39	0.51482	D	0.999926	B;B	0.33826	0.302;0.427	B;B	0.43413	0.185;0.419	T	0.56505	-0.7968	10	0.66056	D	0.02	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	419;427	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	G	427;419;419	ENSP00000363583:E427G;ENSP00000379155:E419G;ENSP00000379154:E419G	ENSP00000363583:E427G	E	-	2	0	RASGEF1A	43012522	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	7.518000	0.81795	1.976000	0.57569	0.533000	0.62120	GAG		0.517	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		13	56	0	0	0	0	13	56				
OR52M1	119772	broad.mit.edu	37	11	4566851	4566851	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:4566851G>A	ENST00000360213.1	+	1	431	c.431G>A	c.(430-432)gGt>gAt	p.G144D		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGTGGGTCGTTTGGGG	0.522																																						uc010qyf.1		NA																	0					0						c.(430-432)GGT>GAT		olfactory receptor, family 52, subfamily M,							108.0	105.0	106.0					11																	4566851		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566851G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.431G>A	11.37:g.4566851G>A	ENSP00000353343:p.Gly144Asp						p.G144D	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	431	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	144			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.431G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285127	0.23478	.	.	ENSG00000197790	ENST00000360213	T	0.37752	1.18	4.98	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000207	T	0.42921	0.1224	M	0.87097	2.86	0.09310	N	1	P	0.48998	0.918	B	0.43575	0.424	T	0.48581	-0.9023	10	0.72032	D	0.01	.	7.6137	0.28145	0.0:0.1532:0.5684:0.2784	.	144	Q8NGK5	O52M1_HUMAN	D	144	ENSP00000353343:G144D	ENSP00000353343:G144D	G	+	2	0	OR52M1	4523427	0.000000	0.05858	0.516000	0.27786	0.052000	0.14988	-0.247000	0.08866	1.438000	0.47492	0.650000	0.86243	GGT		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		28	60	0	0	0	0	28	60				
OR51A4	401666	broad.mit.edu	37	11	4967421	4967421	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:4967421C>T	ENST00000380373.2	-	1	935	c.910G>A	c.(910-912)Gtt>Att	p.V304I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGCTACAACTCTCACTCTA	0.353																																						uc010qys.1		NA																	0				ovary(2)|skin(1)	3						c.(910-912)GTT>ATT		olfactory receptor, family 51, subfamily A,							128.0	130.0	130.0					11																	4967421		2199	4298	6497	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967421C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.910G>A	11.37:g.4967421C>T	ENSP00000369731:p.Val304Ile						p.V304I	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	910	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	304			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.910G>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281524	0.01398	.	.	ENSG00000205497	ENST00000380373	T	0.37752	1.18	2.71	1.77	0.24775	.	.	.	.	.	T	0.14184	0.0343	N	0.05534	-0.03	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.33828	-0.9853	9	0.02654	T	1	.	5.7633	0.18213	0.0:0.8403:0.0:0.1597	.	304	Q8NGJ6	O51A4_HUMAN	I	304	ENSP00000369731:V304I	ENSP00000369731:V304I	V	-	1	0	OR51A4	4923997	0.000000	0.05858	0.001000	0.08648	0.411000	0.31082	-1.302000	0.02746	0.458000	0.26988	-0.310000	0.09108	GTT		0.353	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		28	254	0	0	0	0	28	254				
NAV2	89797	broad.mit.edu	37	11	19735323	19735323	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:19735323C>T	ENST00000396087.3	+	1	181	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396085.1_Missense_Mutation_p.P28S|NAV2_ENST00000349880.4_Missense_Mutation_p.P28S|RP11-359E10.1_ENST00000603468.1_lincRNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	28					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTGCACGTgcccccggcccg	0.662																																						uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(82-84)CCC>TCC		neuron navigator 2 isoform 2							21.0	22.0	21.0					11																	19735323		2195	4290	6485	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19735323C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.82C>T	11.37:g.19735323C>T	ENSP00000379396:p.Pro28Ser					NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.P28S|LOC100126784_uc010rdl.1_3'UTR	p.P28S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			1	443	+			28					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.82C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242915	0.95272	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59083	0.29;0.29;0.29	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000036	T	0.44371	0.1290	N	0.24115	0.695	0.80722	D	1	B	0.31680	0.335	B	0.30943	0.122	T	0.33548	-0.9864	9	.	.	.	.	16.8942	0.86095	0.0:1.0:0.0:0.0	.	28	Q8IVL1-3	.	S	28	ENSP00000379394:P28S;ENSP00000309577:P28S;ENSP00000379396:P28S	.	P	+	1	0	NAV2	19691899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.602000	0.74141	2.520000	0.84964	0.561000	0.74099	CCC		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		7	25	0	0	0	0	7	25				
EHF	26298	broad.mit.edu	37	11	34673089	34673089	+	Splice_Site	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:34673089A>T	ENST00000533754.1	+	5	624	c.407A>T	c.(406-408)gAg>gTg	p.E136V	EHF_ENST00000530286.1_Splice_Site_p.E136V|EHF_ENST00000450654.2_Splice_Site_p.E136V|EHF_ENST00000531794.1_Splice_Site_p.E158V|EHF_ENST00000257831.3_Splice_Site_p.E136V					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTTTTTGTAGAGCCTTCCATC	0.423																																						uc001mvr.1		NA																	0					0						c.(406-408)GAG>GTG		ets homologous factor							91.0	88.0	89.0					11																	34673089		2202	4298	6500	SO:0001630	splice_region_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34673089A>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.407-1A>T	11.37:g.34673089A>T						EHF_uc009yke.1_Missense_Mutation_p.E136V|EHF_uc009ykf.1_Missense_Mutation_p.E139V	p.E136V	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		5	518	+		all_hematologic(20;0.117)	136						Missense_Mutation	SNP	ENST00000533754.1	37	c.407A>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402700	0.42613	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000525253;ENST00000531794;ENST00000532302	T;T;T;T;T;T;T;T	0.32023	3.19;2.88;3.19;3.19;1.47;1.48;3.18;1.48	6.17	6.17	0.99709	.	1.107620	0.06493	N	0.735013	T	0.23572	0.0570	N	0.14661	0.345	0.80722	D	1	B;B;B	0.29341	0.242;0.01;0.11	B;B;B	0.22880	0.042;0.016;0.022	T	0.07233	-1.0783	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	158;136;136	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	V	136;136;136;136;136;136;158;136	ENSP00000257831:E136V;ENSP00000399733:E136V;ENSP00000433508:E136V;ENSP00000435837:E136V;ENSP00000432905:E136V;ENSP00000434395:E136V;ENSP00000435835:E158V;ENSP00000432460:E136V	.	E	+	2	0	EHF	34629665	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	6.094000	0.71431	2.371000	0.80710	0.533000	0.62120	GAG		0.423	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153	Missense_Mutation	20	41	0	0	0	0	20	41				
SPI1	6688	broad.mit.edu	37	11	47381575	47381575	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:47381575G>C	ENST00000378538.3	-	3	381	c.159C>G	c.(157-159)ttC>ttG	p.F53L	SPI1_ENST00000227163.4_Missense_Mutation_p.F54L|SPI1_ENST00000533968.1_Missense_Mutation_p.F53L|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	53					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGTGGGGGTGGAAGTCCCAGT	0.582																																						uc001nfc.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(157-159)TTC>TTG		hematopoietic transcription factor PU.1 isoform							21.0	21.0	21.0					11																	47381575		2201	4298	6499	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47381575G>C	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.159C>G	11.37:g.47381575G>C	ENSP00000367799:p.Phe53Leu					SPI1_uc001nfb.1_Missense_Mutation_p.F54L|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.F47L	p.F53L	NM_003120	NP_003111	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	382	-			53						Missense_Mutation	SNP	ENST00000378538.3	37	c.159C>G	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557292	0.27827	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T	0.17528	2.27;2.28	3.59	1.68	0.24146	.	0.062472	0.64402	D	0.000004	T	0.15003	0.0362	L	0.50333	1.59	0.32240	N	0.572789	P;B;B	0.42248	0.774;0.011;0.307	B;B;B	0.42495	0.389;0.007;0.117	T	0.13629	-1.0502	10	0.31617	T	0.26	-20.7524	5.818	0.18512	0.5118:0.0:0.4882:0.0	.	53;53;54	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	L	53;54;53	ENSP00000367799:F53L;ENSP00000227163:F54L	ENSP00000227163:F54L	F	-	3	2	SPI1	47338151	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	1.694000	0.37752	0.311000	0.23014	0.655000	0.94253	TTC		0.582	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		6	6	0	0	0	0	6	6				
OR8J1	219477	broad.mit.edu	37	11	56128447	56128447	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:56128447C>T	ENST00000303039.3	+	1	757	c.725C>T	c.(724-726)gCt>gTt	p.A242V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTACCTGTGCTTCACATATG	0.348																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(724-726)GCT>GTT		olfactory receptor, family 8, subfamily J,							123.0	113.0	117.0					11																	56128447		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128447C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.725C>T	11.37:g.56128447C>T	ENSP00000304060:p.Ala242Val						p.A242V	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	725	+	Esophageal squamous(21;0.00448)		242			Helical; Name=6; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.725C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276822	0.23307	.	.	ENSG00000172487	ENST00000303039	T	0.38560	1.13	3.9	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.498363	0.20235	N	0.096410	T	0.46795	0.1411	M	0.69823	2.125	0.18873	N	0.999987	B	0.22080	0.064	B	0.33196	0.159	T	0.51647	-0.8679	10	0.66056	D	0.02	.	13.1474	0.59470	0.0:0.4372:0.5628:0.0	.	242	Q8NGP2	OR8J1_HUMAN	V	242	ENSP00000304060:A242V	ENSP00000304060:A242V	A	+	2	0	OR8J1	55885023	0.000000	0.05858	0.990000	0.47175	0.604000	0.37047	-0.073000	0.11468	0.380000	0.24823	-0.344000	0.07964	GCT		0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		35	69	0	0	0	0	35	69				
SF3B2	10992	broad.mit.edu	37	11	65826722	65826722	+	Silent	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:65826722C>T	ENST00000322535.6	+	11	1282	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	SF3B2_ENST00000528302.1_Silent_p.D394D	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	411					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAACTTGACAAACTGGAGA	0.532																																						uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(1231-1233)GAC>GAT		splicing factor 3B subunit 2							62.0	58.0	59.0					11																	65826722		2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826722C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1233C>T	11.37:g.65826722C>T							p.D411D	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			11	1273	+			411					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.1233C>T	CCDS31612.1																																																																																				0.532	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			10	27	0	0	0	0	10	27				
INPPL1	3636	broad.mit.edu	37	11	71939892	71939892	+	Splice_Site	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:71939892G>A	ENST00000298229.2	+	4	722		c.e4+1		INPPL1_ENST00000541756.1_Splice_Site|INPPL1_ENST00000538751.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGCTGAGAGGTGAGACCCCC	0.627																																						uc001osf.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.e4+1		inositol polyphosphate phosphatase-like 1							43.0	52.0	49.0					11																	71939892		2199	4293	6492	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71939892G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.518+1G>A	11.37:g.71939892G>A						INPPL1_uc001osg.2_Splice_Site	p.S173_splice	NM_001567	NP_001558	O15357	SHIP2_HUMAN			4	665	+								B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	37	c.518_splice	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960372	0.53400	.	.	ENSG00000165458	ENST00000298229	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7248	0.57164	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPPL1	71617540	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.166000	0.58203	2.381000	0.81170	0.561000	0.74099	.		0.627	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Intron	21	44	0	0	0	0	21	44				
USP35	57558	broad.mit.edu	37	11	77924730	77924730	+	Silent	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:77924730C>A	ENST00000529308.1	+	11	3189	c.2928C>A	c.(2926-2928)atC>atA	p.I976I	USP35_ENST00000530267.1_Silent_p.I544I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.I707I|USP35_ENST00000441408.2_Silent_p.I562I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	976					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGGCCTACATCTCTGCACTCC	0.577																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(2926-2928)ATC>ATA		ubiquitin specific protease 35							52.0	55.0	54.0					11																	77924730		1970	4125	6095	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924730C>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2928C>A	11.37:g.77924730C>A						USP35_uc001ozc.2_Silent_p.I544I|USP35_uc010rsp.1_Silent_p.I408I|USP35_uc001ozd.2_Silent_p.I587I|USP35_uc001ozf.2_Silent_p.I707I	p.I976I	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3174	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		976						Silent	SNP	ENST00000529308.1	37	c.2928C>A	CCDS41693.1																																																																																				0.577	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		19	53	1	0	4.97e-08	2.03e-07	19	53				
FAT3	120114	broad.mit.edu	37	11	92085482	92085482	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:92085482G>A	ENST00000298047.6	+	1	221	c.204G>A	c.(202-204)atG>atA	p.M68I	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Missense_Mutation_p.M68I|FAT3_ENST00000409404.2_Missense_Mutation_p.M68I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTAGAATGGGCATCACCT	0.458										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(202-204)ATG>ATA		FAT tumor suppressor homolog 3							83.0	85.0	84.0					11																	92085482		1944	4140	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085482G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.204G>A	11.37:g.92085482G>A	ENSP00000298047:p.Met68Ile	TCGA Ovarian(4;0.039)					p.M68I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	221	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	68			Cadherin 1.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.204G>A		.	.	.	.	.	.	.	.	.	.	G	17.05	3.289275	0.59976	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.59906	0.23;0.23;0.23	5.41	5.41	0.78517	.	.	.	.	.	T	0.76870	0.4048	M	0.77103	2.36	0.52099	D	0.999942	D	0.59767	0.986	D	0.70935	0.971	T	0.77205	-0.2673	9	0.49607	T	0.09	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	68	Q8TDW7-3	.	I	68	ENSP00000298047:M68I;ENSP00000387040:M68I;ENSP00000443786:M68I	ENSP00000298047:M68I	M	+	3	0	FAT3	91725130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.731000	0.98807	2.696000	0.92011	0.655000	0.94253	ATG		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	48	0	0	0	0	16	48				
SLC36A4	120103	broad.mit.edu	37	11	92901243	92901243	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:92901243T>C	ENST00000326402.4	-	7	765	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	SLC36A4_ENST00000529184.1_Missense_Mutation_p.Y77C	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	212					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAAGCATATATATCCTTAG	0.353																																						uc001pdn.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(634-636)TAT>TGT		solute carrier family 36 (proton/amino acid							127.0	126.0	126.0					11																	92901243		2201	4296	6497	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901243T>C	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.635A>G	11.37:g.92901243T>C	ENSP00000317382:p.Tyr212Cys					SLC36A4_uc001pdm.2_Missense_Mutation_p.Y77C	p.Y212C	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			7	732	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	212			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.635A>G	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800433	0.70567	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02498	4.27;4.27;4.27	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	M	0.80616	2.505	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.00146	-1.1992	10	0.87932	D	0	-13.8592	15.994	0.80228	0.0:0.0:0.0:1.0	.	212	Q6YBV0	S36A4_HUMAN	C	212;77;106	ENSP00000317382:Y212C;ENSP00000436570:Y77C;ENSP00000432061:Y106C	ENSP00000317382:Y212C	Y	-	2	0	SLC36A4	92540891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.608000	0.74168	2.168000	0.68352	0.528000	0.53228	TAT		0.353	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			19	47	0	0	0	0	19	47				
JRKL	8690	broad.mit.edu	37	11	96125222	96125222	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:96125222T>G	ENST00000332349.4	+	2	1656	c.1409T>G	c.(1408-1410)cTa>cGa	p.L470R	JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.L470R	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	470					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAATAGAACTAATTCCAGAG	0.398																																						uc009ywu.2		NA																	0					0						c.(1408-1410)CTA>CGA		jerky homolog-like							64.0	55.0	58.0					11																	96125222		2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96125222T>G	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1409T>G	11.37:g.96125222T>G	ENSP00000333350:p.Leu470Arg					CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L470R	p.L470R	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	2	1661	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	470					A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.1409T>G	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787188	0.49997	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.24723	1.84;1.84	4.79	3.65	0.41850	.	0.000000	0.32190	N	0.006459	T	0.28962	0.0719	L	0.46157	1.445	0.33500	D	0.589754	P	0.48503	0.911	P	0.52217	0.693	T	0.35101	-0.9802	10	0.24483	T	0.36	-8.3219	7.4771	0.27382	0.0:0.1009:0.0:0.8991	.	470	Q9Y4A0	JERKL_HUMAN	R	470	ENSP00000333350:L470R;ENSP00000389989:L470R	ENSP00000333350:L470R	L	+	2	0	JRKL	95764870	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	3.841000	0.55850	0.778000	0.33520	0.379000	0.24179	CTA		0.398	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		5	22	0	0	0	0	5	22				
ROBO4	54538	broad.mit.edu	37	11	124756427	124756427	+	Silent	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr11:124756427G>T	ENST00000306534.3	-	16	3212	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	ROBO4_ENST00000533054.1_Silent_p.A764A|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	909					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCACTGCCAGGGCCCGGGCAA	0.602																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(2725-2727)GCC>GCA		roundabout homolog 4, magic roundabout							45.0	49.0	48.0					11																	124756427		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756427G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2727C>A	11.37:g.124756427G>T						ROBO4_uc010sas.1_Silent_p.A764A|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.A467A	p.A909A	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2867	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	909					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2727C>A	CCDS8455.1																																																																																				0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		8	39	1	0	5.18e-06	2.07e-05	8	39				
FKBP4	2288	broad.mit.edu	37	12	2907902	2907902	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:2907902C>A	ENST00000001008.4	+	4	611	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	142					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GGGAGAAGATCTGACGGAAGA	0.483																																						uc001qkz.2		NA																	0					0						c.(424-426)CTG>ATG		FK506 binding protein 52	Dimethyl sulfoxide(DB01093)						170.0	155.0	160.0					12																	2907902		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2907902C>A	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.424C>A	12.37:g.2907902C>A	ENSP00000001008:p.Leu142Met						p.L142M	NM_002014	NP_002005	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		4	622	+			142					D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.424C>A	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460027	0.43736	.	.	ENSG00000004478	ENST00000001008	T	0.56611	0.45	4.87	3.98	0.46160	.	0.200520	0.42294	D	0.000727	T	0.72740	0.3498	M	0.85859	2.78	0.53688	D	0.999975	D	0.89917	1.0	D	0.72982	0.979	T	0.76206	-0.3044	10	0.62326	D	0.03	-11.8284	11.8361	0.52325	0.0:0.9136:0.0:0.0864	.	142	Q02790	FKBP4_HUMAN	M	142	ENSP00000001008:L142M	ENSP00000001008:L142M	L	+	1	2	FKBP4	2778163	1.000000	0.71417	0.998000	0.56505	0.177000	0.22998	3.108000	0.50337	1.046000	0.40249	-0.251000	0.11542	CTG		0.483	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			49	148	1	0	5.57e-27	2.47e-26	49	148				
GALNT8	26290	broad.mit.edu	37	12	4854675	4854675	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:4854675C>T	ENST00000252318.2	+	5	1278	c.941C>T	c.(940-942)aCc>aTc	p.T314I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	314					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CGTTTTGACACCTTCAAACTG	0.488																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(940-942)ACC>ATC		polypeptide N-acetylgalactosaminyltransferase 8							129.0	107.0	114.0					12																	4854675		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4854675C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.941C>T	12.37:g.4854675C>T	ENSP00000252318:p.Thr314Ile						p.T314I	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			5	1033	+			314			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.941C>T	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421985	0.62622	.	.	ENSG00000130035	ENST00000252318	T	0.60171	0.21	4.2	4.2	0.49525	Glycosyl transferase, family 2 (1);	0.135370	0.49916	D	0.000137	T	0.80752	0.4683	M	0.93283	3.4	0.27670	N	0.946784	D	0.76494	0.999	D	0.72338	0.977	T	0.76966	-0.2763	10	0.87932	D	0	.	14.0866	0.64962	0.0:1.0:0.0:0.0	.	314	Q9NY28	GALT8_HUMAN	I	314	ENSP00000252318:T314I	ENSP00000252318:T314I	T	+	2	0	GALNT8	4724936	0.657000	0.27393	0.845000	0.33349	0.665000	0.39181	1.380000	0.34351	2.175000	0.68902	0.491000	0.48974	ACC		0.488	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		23	69	0	0	0	0	23	69				
KCNA1	3736	broad.mit.edu	37	12	5021157	5021157	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:5021157A>T	ENST00000382545.3	+	2	1720	c.613A>T	c.(613-615)Atc>Ttc	p.I205F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	205					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGTCCACCGCATCGACAACAC	0.537																																						uc001qnh.2		NA																	0				ovary(1)|skin(1)	2						c.(613-615)ATC>TTC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						117.0	93.0	101.0					12																	5021157		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021157A>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.613A>T	12.37:g.5021157A>T	ENSP00000371985:p.Ile205Phe						p.I205F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1718	+			205					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.613A>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.775786	0.00640	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.62941	-0.01	4.86	-2.07	0.07276	.	0.295385	0.11826	U	0.525740	T	0.38585	0.1046	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25813	-1.0121	10	0.09843	T	0.71	.	5.962	0.19305	0.3362:0.4248:0.2389:0.0	.	205	Q09470	KCNA1_HUMAN	F	205	ENSP00000371985:I205F	ENSP00000228858:I205F	I	+	1	0	KCNA1	4891418	0.001000	0.12720	0.133000	0.22050	0.105000	0.19272	0.564000	0.23563	-0.426000	0.07360	-1.148000	0.01847	ATC		0.537	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		19	48	0	0	0	0	19	48				
PRB1	5542	broad.mit.edu	37	12	11506558	11506558	+	Intron	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:11506558C>A	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_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)			TGGGGGTGGTCCTTGTGGCTT	0.602																																						uc001qzw.1		NA																	0					0						c.(478-480)GGA>GTA		proline-rich protein BstNI subfamily 1 isoform 1							14.0	8.0	11.0					12																	11506558		1149	1813	2962	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506558C>A		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+165G>T	12.37:g.11506558C>A						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.G160V	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	516	-			221		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	Missense_Mutation	SNP	ENST00000500254.2	37	c.479G>T	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		15	45	1	0	7.38e-10	3.08e-09	15	45				
PRB2	653247	broad.mit.edu	37	12	11546653	11546653	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:11546653C>A	ENST00000389362.4	-	3	394	c.359G>T	c.(358-360)gGa>gTa	p.G120V	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	120	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.597																																						uc010shk.1		NA																	0					0						c.(358-360)GGA>GTA		proline-rich protein BstNI subfamily 2							319.0	321.0	321.0					12																	11546653		2203	4300	6503	SO:0001583	missense	653247							g.chr12:11546653C>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.359G>T	12.37:g.11546653C>A	ENSP00000374013:p.Gly120Val						p.G120V	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	394	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.359G>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	8.223	0.803003	0.16397	.	.	ENSG00000121335	ENST00000389362	T	0.09723	2.95	1.42	1.42	0.22433	.	0.000000	0.35262	U	0.003337	T	0.12178	0.0296	M	0.78916	2.43	0.37895	D	0.930857	B	0.20052	0.041	B	0.14023	0.01	T	0.05289	-1.0894	10	0.44086	T	0.13	.	5.2964	0.15754	0.335:0.665:0.0:0.0	.	120	P02812	PRB2_HUMAN	V	120	ENSP00000374013:G120V	ENSP00000374013:G120V	G	-	2	0	PRB2	11437920	0.628000	0.27138	0.054000	0.19295	0.136000	0.21042	0.797000	0.26999	0.688000	0.31529	0.186000	0.17326	GGA		0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		32	713	1	0	6.91e-12	2.93e-11	32	713				
MRPS35	60488	broad.mit.edu	37	12	27888432	27888432	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:27888432A>C	ENST00000081029.3	+	6	646	c.575A>C	c.(574-576)aAa>aCa	p.K192T	MRPS35_ENST00000538315.1_Intron	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAATTAATTAAACTTGTAGGA	0.323																																						uc001rih.2		NA																	0					0						c.(574-576)AAA>ACA		mitochondrial ribosomal protein S35 precursor							79.0	83.0	82.0					12																	27888432		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27888432A>C	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.575A>C	12.37:g.27888432A>C	ENSP00000081029:p.Lys192Thr					MRPS35_uc001rii.2_Intron	p.K192T	NM_021821	NP_068593	P82673	RT35_HUMAN			6	623	+	Lung SC(9;0.0873)		192					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.575A>C	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626659	0.87560	.	.	ENSG00000061794	ENST00000081029	T	0.47869	0.83	5.76	5.76	0.90799	Ribosomal protein S24/S35, mitochondrial, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.74928	-0.3497	10	0.56958	D	0.05	-14.1811	13.7492	0.62897	1.0:0.0:0.0:0.0	.	192	P82673	RT35_HUMAN	T	192	ENSP00000081029:K192T	ENSP00000081029:K192T	K	+	2	0	MRPS35	27779699	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.635000	0.61332	2.323000	0.78572	0.528000	0.53228	AAA		0.323	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		22	54	0	0	0	0	22	54				
KRT4	3851	broad.mit.edu	37	12	53201426	53201426	+	Splice_Site	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:53201426A>G	ENST00000551956.1	-	7	1839		c.e7+1		KRT4_ENST00000458244.2_Splice_Site|KRT4_ENST00000293774.4_Splice_Site			P19013	K2C4_HUMAN	keratin 4						cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTAACCCCTCACCTGTACTCC	0.582																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	0				ovary(4)|skin(2)	6						c.e7+1		keratin 4							95.0	94.0	94.0					12																	53201426		2203	4300	6503	SO:0001630	splice_region_variant	3851					keratin filament	structural molecule activity	g.chr12:53201426A>G		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1346+1T>C	12.37:g.53201426A>G							p.R523_splice	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			7	1839	-								F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Splice_Site	SNP	ENST00000551956.1	37	c.1568_splice	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724650	0.48833	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8595	0.79012	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT4	51487693	1.000000	0.71417	0.994000	0.49952	0.303000	0.27691	8.963000	0.93385	2.216000	0.71823	0.459000	0.35465	.		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	Intron	31	57	0	0	0	0	31	57				
GALNT4	8693	broad.mit.edu	37	12	89917883	89917883	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:89917883C>A	ENST00000529983.2	-	1	700	c.444G>T	c.(442-444)tgG>tgT	p.W148C	POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.W145C|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	148	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GCAAAGTCGACCAGGCTTCGT	0.398											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tbd.2		NA																	0					0						c.(442-444)TGG>TGT		polypeptide N-acetylgalactosaminyltransferase 4							136.0	127.0	130.0					12																	89917883		1886	4123	6009	SO:0001583	missense	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89917883C>A	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.444G>T	12.37:g.89917883C>A	ENSP00000436604:p.Trp148Cys		OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.W145C|GALNT4_uc010suo.1_Intron	p.W148C	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN			1	653	-			148			Lumenal (Potential).|Catalytic subdomain A.		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.444G>T	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002550	0.74932	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.59906	0.23;0.23	5.99	5.99	0.97316	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.85526	0.5717	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.89802	0.3976	9	0.87932	D	0	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	145;148	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	C	145;148	ENSP00000447852:W145C;ENSP00000436604:W148C	ENSP00000436604:W148C	W	-	3	0	GALNT4;RP11-1109F11.4	88442014	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.725000	0.84808	2.843000	0.97960	0.655000	0.94253	TGG		0.398	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		18	45	1	0	1.34e-09	5.53e-09	18	45				
ACTR6	64431	broad.mit.edu	37	12	100604114	100604114	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:100604114A>T	ENST00000188312.2	+	6	1322	c.557A>T	c.(556-558)gAg>gTg	p.E186V	ACTR6_ENST00000551617.1_Missense_Mutation_p.E104V|ACTR6_ENST00000546902.1_Missense_Mutation_p.E104V|ACTR6_ENST00000552376.1_Missense_Mutation_p.E186V	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	186						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CATCTAAAGGAGATCATATCT	0.358																																						uc001thb.1		NA																	0				ovary(1)	1						c.(556-558)GAG>GTG		ARP6 actin-related protein 6 homolog							92.0	96.0	95.0					12																	100604114		2203	4300	6503	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100604114A>T	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.557A>T	12.37:g.100604114A>T	ENSP00000188312:p.Glu186Val					ACTR6_uc001thc.1_Missense_Mutation_p.E78V|ACTR6_uc001thd.1_Missense_Mutation_p.E186V|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E104V|ACTR6_uc001thf.1_Missense_Mutation_p.E104V|uc001thg.1_Intron	p.E186V	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			6	613	+			186					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.557A>T	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597220	0.87055	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.01	5.01	0.66863	.	0.093508	0.64402	D	0.000001	D	0.97458	0.9168	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.984;0.991	D	0.98030	1.0376	9	.	.	.	.	15.1719	0.72881	1.0:0.0:0.0:0.0	.	104;186;186	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	V	186;104;186;104	ENSP00000188312:E186V;ENSP00000448669:E104V;ENSP00000447237:E186V;ENSP00000448356:E104V	.	E	+	2	0	ACTR6	99128245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.763000	0.91715	2.219000	0.72066	0.533000	0.62120	GAG		0.358	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		33	75	0	0	0	0	33	75				
NCOR2	9612	broad.mit.edu	37	12	124979778	124979778	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr12:124979778G>A	ENST00000405201.1	-	1	20	c.20C>T	c.(19-21)cCt>cTt	p.P7L	NCOR2_ENST00000404621.1_Missense_Mutation_p.P7L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P7L|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.P7L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P7L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	7				P -> L (in Ref. 2; AAD20946). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTGCCACAGGCTGTGTGGA	0.627																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(19-21)CCT>CTT		nuclear receptor co-repressor 2 isoform 2							32.0	36.0	35.0					12																	124979778		1981	4143	6124	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124979778G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.20C>T	12.37:g.124979778G>A	ENSP00000384018:p.Pro7Leu					NCOR2_uc010tay.1_Missense_Mutation_p.P7L|NCOR2_uc010taz.1_Missense_Mutation_p.P7L|NCOR2_uc010tbb.1_Missense_Mutation_p.P7L|NCOR2_uc010tbc.1_Missense_Mutation_p.P7L|NCOR2_uc001ugj.1_Missense_Mutation_p.P7L|NCOR2_uc001ugk.1_Missense_Mutation_p.P7L	p.P7L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	1	137	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		7	P -> L (in Ref. 2; AAD20946).				O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.20C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981716	0.34942	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T	0.36340	2.04;2.31;2.05;2.31;2.31;1.26	5.28	5.28	0.74379	.	0.067743	0.64402	D	0.000010	T	0.50616	0.1626	M	0.62723	1.935	0.80722	D	1	D;D;D	0.57571	0.965;0.965;0.98	P;P;P	0.57152	0.656;0.656;0.814	T	0.53019	-0.8497	10	0.72032	D	0.01	-15.3362	12.7517	0.57312	0.0:0.0:0.8355:0.1644	.	7;7;7	C9J0Q5;C9J239;C9JFD3	.;.;.	L	7	ENSP00000384018:P7L;ENSP00000384202:P7L;ENSP00000348551:P7L;ENSP00000380513:P7L;ENSP00000400281:P7L;ENSP00000402808:P7L	ENSP00000348551:P7L	P	-	2	0	NCOR2	123545731	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	4.326000	0.59241	2.451000	0.82905	0.561000	0.74099	CCT		0.627	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	29	0	0	0	0	5	29				
GPALPP1	55425	broad.mit.edu	37	13	45580367	45580367	+	Silent	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr13:45580367T>C	ENST00000379151.4	+	3	355	c.252T>C	c.(250-252)gaT>gaC	p.D84D	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Silent_p.D84D|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	84	Poly-Asp.																atgatgacgatgatgatgatg	0.338																																						uc001uzq.2		NA																	0				pancreas(1)|skin(1)	2						c.(250-252)GAT>GAC		hypothetical protein LOC55425							187.0	186.0	186.0					13																	45580367		2203	4300	6503	SO:0001819	synonymous_variant	55425							g.chr13:45580367T>C	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.252T>C	13.37:g.45580367T>C						KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Silent_p.D84D|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	p.D84D	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	84			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Silent	SNP	ENST00000379151.4	37	c.252T>C	CCDS9394.1																																																																																				0.338	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		4	175	0	0	0	0	4	175				
LCP1	3936	broad.mit.edu	37	13	46716466	46716466	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr13:46716466C>T	ENST00000398576.2	-	16	1851	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	LCP1_ENST00000435666.2_Missense_Mutation_p.R57H|LCP1_ENST00000323076.2_Missense_Mutation_p.R488H			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	488	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTGAGAGTGCGGTTTCCTTC	0.413			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1462-1464)CGC>CAC		L-plastin							196.0	169.0	178.0					13																	46716466		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46716466C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1463G>A	13.37:g.46716466C>T	ENSP00000381581:p.Arg488His					LCP1_uc010ack.2_Missense_Mutation_p.R57H|LCP1_uc001vay.3_Missense_Mutation_p.R85H|LCP1_uc001vba.3_Missense_Mutation_p.R488H	p.R488H	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1589	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	488			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1463G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703919	0.48412	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94897	-3.55;-3.55;-3.55	5.5	3.77	0.43336	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.101174	0.64402	D	0.000002	D	0.89832	0.6829	L	0.36672	1.1	0.47778	D	0.999518	B;B	0.26147	0.143;0.002	B;B	0.27796	0.083;0.005	D	0.86855	0.2026	10	0.59425	D	0.04	-1.4523	8.0733	0.30701	0.0:0.7598:0.0:0.2402	.	57;488	B4DUA0;P13796	.;PLSL_HUMAN	H	488;488;57	ENSP00000315757:R488H;ENSP00000381581:R488H;ENSP00000405134:R57H	ENSP00000315757:R488H	R	-	2	0	LCP1	45614467	0.924000	0.31332	0.957000	0.39632	0.972000	0.66771	0.954000	0.29175	1.330000	0.45394	0.561000	0.74099	CGC		0.413	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		16	97	0	0	0	0	16	97				
OR11H12	440153	broad.mit.edu	37	14	19378056	19378056	+	Missense_Mutation	SNP	C	C	A	rs372134904		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:19378056C>A	ENST00000550708.1	+	1	535	c.463C>A	c.(463-465)Ctc>Atc	p.L155I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTGGGCATCTCTGTGCCAA	0.473																																						uc010tkp.1		NA																	0				ovary(2)	2						c.(463-465)CTC>ATC		olfactory receptor, family 11, subfamily H,		C	ILE/LEU	0,4402		0,0,2201	146.0	156.0	153.0		463	-0.6	0.8	14		153	1,8589		0,1,4294	no	missense	OR11H12	NM_001013354.1	5	0,1,6495	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	155/327	19378056	1,12991	2201	4295	6496	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378056C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.463C>A	14.37:g.19378056C>A	ENSP00000449002:p.Leu155Ile						p.L155I	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	463	+	all_cancers(95;0.00108)		155			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.463C>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	5.213	0.224844	0.09916	0.0	1.16E-4	ENSG00000257115	ENST00000550708	T	0.00174	8.62	0.585	-0.642	0.11486	GPCR, rhodopsin-like superfamily (1);	0.753157	0.10478	N	0.669918	T	0.00178	0.0005	L	0.56199	1.76	0.21984	N	0.999433	B	0.24963	0.115	B	0.29785	0.107	T	0.08889	-1.0700	9	0.49607	T	0.09	.	4.7487	0.13050	0.0:0.7161:0.0:0.2839	.	155	B2RN74	O11HC_HUMAN	I	155	ENSP00000449002:L155I	ENSP00000449002:L155I	L	+	1	0	CR383656.1	18448056	0.000000	0.05858	0.825000	0.32803	0.199000	0.23934	-2.263000	0.01174	-0.238000	0.09724	0.064000	0.15345	CTC		0.473	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		34	436	1	0	3.63e-18	1.58e-17	34	436				
SLC7A7	9056	broad.mit.edu	37	14	23240279	23240279	+	IGR	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:23240279C>A	ENST00000397532.3	-	0	2447				OXA1L_ENST00000604262.1_Missense_Mutation_p.S331Y|OXA1L_ENST00000412791.1_Missense_Mutation_p.S331Y|OXA1L_ENST00000285848.5_Missense_Mutation_p.S391Y|OXA1L_ENST00000358043.5_Missense_Mutation_p.S315Y|SLC7A7_ENST00000554061.1_5'Flank			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GTCCAAGTATCCTGTCTCCGG	0.507																																						uc001wgn.2		NA																	0				central_nervous_system(1)	1						c.(1171-1173)TCC>TAC		oxidase (cytochrome c) assembly 1-like							149.0	130.0	137.0					14																	23240279		2203	4300	6503	SO:0001628	intergenic_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23240279C>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240279C>A						OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.S391Y|OXA1L_uc001wgp.2_Missense_Mutation_p.S315Y|OXA1L_uc001wgq.2_Missense_Mutation_p.S95Y	p.S391Y	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	8	1172	+	all_cancers(95;8.44e-05)		331			Mitochondrial matrix (Potential).		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1172C>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257144	0.59321	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.30182	1.55;1.54;1.56	5.71	3.78	0.43462	.	0.541495	0.21477	N	0.073897	T	0.30885	0.0779	N	0.16602	0.42	0.35078	D	0.763151	P;P;D	0.58970	0.95;0.854;0.984	P;P;P	0.57009	0.764;0.811;0.776	T	0.45220	-0.9276	10	0.72032	D	0.01	0.0143	9.8452	0.41024	0.0:0.6785:0.2346:0.0869	.	331;331;391	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	Y	391;331;315	ENSP00000285848:S391Y;ENSP00000387601:S331Y;ENSP00000350740:S315Y	ENSP00000285848:S391Y	S	+	2	0	OXA1L	22310119	0.027000	0.19231	0.930000	0.37139	0.556000	0.35491	1.279000	0.33191	1.406000	0.46857	0.609000	0.83330	TCC		0.507	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			51	105	1	0	2.7e-25	1.19e-24	51	105				
CIPC	85457	broad.mit.edu	37	14	77579969	77579969	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:77579969A>G	ENST00000361786.2	+	4	825	c.508A>G	c.(508-510)Agg>Ggg	p.R170G	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		170					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TCCAGGCAAAAGGGGCCTTTC	0.488																																						uc001xtd.2		NA																	0					0						c.(508-510)AGG>GGG		KIAA1737 protein							82.0	83.0	83.0					14																	77579969		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77579969A>G																												ENST00000361786.2:c.508A>G	14.37:g.77579969A>G	ENSP00000355319:p.Arg170Gly					KIAA1737_uc001xtc.1_Missense_Mutation_p.R72G	p.R170G	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	687	+			170					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.508A>G	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919377	0.52653	.	.	ENSG00000198894	ENST00000361786	T	0.31510	1.49	5.6	3.13	0.36017	.	0.366949	0.31531	N	0.007489	T	0.46483	0.1395	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.951	T	0.20009	-1.0288	10	0.39692	T	0.17	-11.1197	11.7518	0.51853	0.7201:0.2799:0.0:0.0	.	170;72	Q9C0C6;B3KU75	K1737_HUMAN;.	G	170	ENSP00000355319:R170G	ENSP00000355319:R170G	R	+	1	2	KIAA1737	76649722	0.992000	0.36948	0.991000	0.47740	0.888000	0.51559	2.759000	0.47573	0.358000	0.24211	0.374000	0.22700	AGG		0.488	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			3	105	0	0	0	0	3	105				
FAM98B	283742	broad.mit.edu	37	15	38773633	38773633	+	Silent	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:38773633G>A	ENST00000491535.1	+	7	878	c.870G>A	c.(868-870)cgG>cgA	p.R290R	FAM98B_ENST00000397609.2_Silent_p.R290R	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	290						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GCACCAGCCGGGAGAAGACCG	0.398																																						uc001zkb.1		NA																	0				ovary(1)	1						c.(868-870)CGG>CGA		family with sequence similarity 98, member B							152.0	140.0	144.0					15																	38773633		2200	4297	6497	SO:0001819	synonymous_variant	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38773633G>A		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.870G>A	15.37:g.38773633G>A						FAM98B_uc001zkc.2_Silent_p.R290R	p.R290R	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	7	905	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	290					A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	c.870G>A	CCDS42015.1																																																																																				0.398	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		11	48	0	0	0	0	11	48				
FBN1	2200	broad.mit.edu	37	15	48784730	48784730	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:48784730T>G	ENST00000316623.5	-	24	3237	c.2782A>C	c.(2782-2784)Aac>Cac	p.N928H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	928	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCTAGTGTTAACACACAGG	0.348																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(2782-2784)AAC>CAC		fibrillin 1 precursor							78.0	76.0	77.0					15																	48784730		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48784730T>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2782A>C	15.37:g.48784730T>G	ENSP00000325527:p.Asn928His						p.N928H	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	24	3110	-		all_lung(180;0.00279)	928			EGF-like 14; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2782A>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715724	0.89112	.	.	ENSG00000166147	ENST00000316623	D	0.98807	-5.15	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98016	1.0368	10	0.87932	D	0	.	16.4837	0.84171	0.0:0.0:0.0:1.0	.	928	P35555	FBN1_HUMAN	H	928	ENSP00000325527:N928H	ENSP00000325527:N928H	N	-	1	0	FBN1	46572022	1.000000	0.71417	0.942000	0.38095	0.983000	0.72400	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAC		0.348	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			8	36	0	0	0	0	8	36				
SNX33	257364	broad.mit.edu	37	15	75941779	75941779	+	Missense_Mutation	SNP	T	T	G	rs371112191		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:75941779T>G	ENST00000308527.5	+	1	1533	c.336T>G	c.(334-336)gaT>gaG	p.D112E	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	112	Poly-Asp.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTGAGGAGGATGATGATGATG	0.622																																						uc002bau.2		NA																	0				ovary(1)	1						c.(334-336)GAT>GAG		sorting nexin 33		T	GLU/ASP	0,4394		0,0,2197	76.0	72.0	74.0		336	-2.0	0.9	15		74	1,8587	1.2+/-3.3	0,1,4293	no	missense	SNX33	NM_153271.1	45	0,1,6490	GG,GT,TT		0.0116,0.0,0.0077	benign	112/575	75941779	1,12981	2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941779T>G	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.336T>G	15.37:g.75941779T>G	ENSP00000311427:p.Asp112Glu					IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	p.D112E	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	432	+			112			Poly-Asp.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.336T>G	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	T	1.081	-0.666885	0.03428	0.0	1.16E-4	ENSG00000173548	ENST00000308527	T	0.63744	-0.06	4.83	-2.04	0.07343	.	0.338596	0.33110	N	0.005266	T	0.26304	0.0642	N	0.04508	-0.205	0.43313	D	0.995324	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.02654	T	1	-4.5606	5.9028	0.18976	0.0:0.3418:0.282:0.3762	.	112	Q8WV41	SNX33_HUMAN	E	112	ENSP00000311427:D112E	ENSP00000311427:D112E	D	+	3	2	SNX33	73728834	0.000000	0.05858	0.872000	0.34217	0.892000	0.51952	-3.064000	0.00622	-0.560000	0.06102	-1.166000	0.01754	GAT		0.622	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		3	100	0	0	0	0	3	100				
NTRK3	4916	broad.mit.edu	37	15	88678559	88678559	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr15:88678559C>A	ENST00000360948.2	-	9	1138	c.977G>T	c.(976-978)cGt>cTt	p.R326L	NTRK3_ENST00000357724.2_Missense_Mutation_p.R326L|NTRK3_ENST00000317501.3_Missense_Mutation_p.R326L|NTRK3_ENST00000557856.1_Missense_Mutation_p.R326L|NTRK3_ENST00000394480.2_Missense_Mutation_p.R326L|NTRK3_ENST00000558676.1_Missense_Mutation_p.R326L|NTRK3_ENST00000542733.2_Missense_Mutation_p.R228L|NTRK3_ENST00000540489.2_Missense_Mutation_p.R326L|NTRK3_ENST00000355254.2_Missense_Mutation_p.R326L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	326	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGGTTGCCACGCACCACAAA	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(976-978)CGT>CTT		neurotrophic tyrosine kinase, receptor, type 3							66.0	67.0	67.0					15																	88678559		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678559C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.977G>T	15.37:g.88678559C>A	ENSP00000354207:p.Arg326Leu	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.R326L|NTRK3_uc002bmf.1_Missense_Mutation_p.R326L|NTRK3_uc010upl.1_Missense_Mutation_p.R228L|NTRK3_uc010bnh.1_Missense_Mutation_p.R326L|NTRK3_uc002bmg.2_Missense_Mutation_p.R326L	p.R326L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1139	-			326			Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.977G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177113	0.38413	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.111263	0.64402	D	0.000009	T	0.55210	0.1906	L	0.51853	1.615	0.58432	D	0.999997	B;P;B;P;P;B	0.43938	0.353;0.549;0.091;0.822;0.553;0.091	B;B;B;B;B;B	0.37692	0.098;0.217;0.175;0.256;0.182;0.175	T	0.59542	-0.7435	10	0.49607	T	0.09	.	6.495	0.22138	0.1822:0.7236:0.0:0.0942	.	228;326;326;326;326;326	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	L	326;326;326;326;228;326;326	ENSP00000377990:R326L;ENSP00000354207:R326L;ENSP00000350356:R326L;ENSP00000347397:R326L;ENSP00000437773:R228L;ENSP00000444673:R326L;ENSP00000318328:R326L	ENSP00000318328:R326L	R	-	2	0	NTRK3	86479563	1.000000	0.71417	0.975000	0.42487	0.114000	0.19823	4.366000	0.59492	2.454000	0.82982	0.563000	0.77884	CGT		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	38	1	0	5.26e-13	2.25e-12	22	38				
CDH8	1006	broad.mit.edu	37	16	61687669	61687669	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:61687669C>A	ENST00000577390.1	-	12	3197	c.2243G>T	c.(2242-2244)gGc>gTc	p.G748V	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	748					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCTTCATAGCCATATATCTG	0.502																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(2242-2244)GGC>GTC		cadherin 8, type 2 preproprotein							57.0	62.0	60.0					16																	61687669		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687669C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2243G>T	16.37:g.61687669C>A	ENSP00000462701:p.Gly748Val						p.G748V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2495	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	748			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2243G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728116	0.48833	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.45698	1.435	0.80722	D	1	P	0.42993	0.797	P	0.50537	0.643	T	0.69658	-0.5086	9	0.62326	D	0.03	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	748	P55286	CADH8_HUMAN	V	748	.	ENSP00000299345:G748V	G	-	2	0	CDH8	60245170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.954000	0.70298	2.679000	0.91253	0.655000	0.94253	GGC		0.502	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	45	1	0	6.72e-11	2.83e-10	14	45				
CDH16	1014	broad.mit.edu	37	16	66947070	66947070	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:66947070C>T	ENST00000299752.4	-	9	1211	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	CDH16_ENST00000565796.1_Missense_Mutation_p.D340N|CDH16_ENST00000570262.1_Missense_Mutation_p.D260N|CDH16_ENST00000394055.3_Missense_Mutation_p.D340N|CDH16_ENST00000568632.1_Missense_Mutation_p.D243N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	340					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGTGGGGTCACGGGGAGGG	0.587																																						uc002eql.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1018-1020)GAC>AAC		cadherin 16 precursor							153.0	146.0	148.0					16																	66947070		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947070C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1018G>A	16.37:g.66947070C>T	ENSP00000299752:p.Asp340Asn					CDH16_uc010cdy.2_Missense_Mutation_p.D340N|CDH16_uc002eqm.2_Missense_Mutation_p.D243N	p.D340N	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1091	-		Ovarian(137;0.0563)	340			Extracellular (Potential).		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1018G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311596	0.10789	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.60797	0.16;0.16	5.29	4.33	0.51752	Cadherin (2);Cadherin-like (1);	0.619078	0.17211	N	0.182722	T	0.42966	0.1226	L	0.31157	0.91	0.09310	N	1	B;B;B	0.24823	0.056;0.058;0.112	B;B;B	0.20767	0.022;0.031;0.031	T	0.26950	-1.0088	10	0.46703	T	0.11	-3.5562	9.1741	0.37100	0.0:0.9022:0.0:0.0978	.	340;340;340	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	N	340;340;304	ENSP00000377619:D340N;ENSP00000299752:D340N	ENSP00000299752:D340N	D	-	1	0	CDH16	65504571	0.004000	0.15560	0.015000	0.15790	0.084000	0.17831	2.044000	0.41241	2.643000	0.89663	0.655000	0.94253	GAC		0.587	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		33	118	0	0	0	0	33	118				
CDH3	1001	broad.mit.edu	37	16	68732227	68732227	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:68732227A>G	ENST00000264012.4	+	16	2958	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.D750G	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	805					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGACCAAGATTACGATTAT	0.642																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(2413-2415)GAT>GGT		cadherin 3, type 1 preproprotein							110.0	112.0	112.0					16																	68732227		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732227A>G	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2414A>G	16.37:g.68732227A>G	ENSP00000264012:p.Asp805Gly					CDH3_uc010vli.1_Missense_Mutation_p.D750G	p.D805G	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	3546	+		Ovarian(137;0.0564)	805			Cytoplasmic (Potential).		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2414A>G	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582640	0.86748	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.78707	-1.2	5.51	5.51	0.81932	Cadherin, cytoplasmic domain (1);	0.000000	0.43260	D	0.000599	D	0.90160	0.6925	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92332	0.5874	10	0.87932	D	0	.	13.8703	0.63615	1.0:0.0:0.0:0.0	.	805	P22223	CADH3_HUMAN	G	805;750	ENSP00000264012:D805G	ENSP00000264012:D805G	D	+	2	0	CDH3	67289728	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	9.229000	0.95273	2.217000	0.71921	0.533000	0.62120	GAT		0.642	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		34	112	0	0	0	0	34	112				
PKD1L2	114780	broad.mit.edu	37	16	81145910	81145910	+	RNA	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr16:81145910A>T	ENST00000534142.1	-	0	1229				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGGACAGGAGTACCAGGAA	0.547																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6841-6843)CTC>CAC		polycystin 1-like 2 isoform a							96.0	92.0	94.0					16																	81145910		2036	4195	6231			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81145910A>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81145910A>T						PKD1L2_uc002fgf.1_Missense_Mutation_p.L81H|PKD1L2_uc002fgg.1_RNA	p.L2281H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			42	6842	-			2281			Helical; (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6842T>A																																																																																					0.547	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			11	82	0	0	0	0	11	82				
FXR2	9513	broad.mit.edu	37	17	7497597	7497597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:7497597G>A	ENST00000250113.7	-	10	1313	c.979C>T	c.(979-981)Cga>Tga	p.R327*	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	327						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCCACTCGAACCCTCACC	0.468																																						uc002gia.1		NA																	0					0						c.(979-981)CGA>TGA		fragile X mental retardation syndrome related							125.0	116.0	119.0					17																	7497597		1902	4116	6018	SO:0001587	stop_gained	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7497597G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.979C>T	17.37:g.7497597G>A	ENSP00000250113:p.Arg327*					FXR2_uc010vud.1_Nonsense_Mutation_p.R327*	p.R327*	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	10	1206	-			327					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Nonsense_Mutation	SNP	ENST00000250113.7	37	c.979C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	40	8.307864	0.98752	.	.	ENSG00000129245	ENST00000250113	.	.	.	5.52	5.52	0.82312	.	0.064533	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0811	11.8013	0.52128	0.0:0.0:0.8252:0.1748	.	.	.	.	X	327	.	ENSP00000250113:R327X	R	-	1	2	FXR2	7438322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.878000	0.48515	2.873000	0.98535	0.563000	0.77884	CGA		0.468	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			6	24	0	0	0	0	6	24				
TP53	7157	broad.mit.edu	37	17	7578520	7578520	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:7578520A>T	ENST00000269305.4	-	5	599	c.410T>A	c.(409-411)cTg>cAg	p.L137Q	TP53_ENST00000445888.2_Missense_Mutation_p.L137Q|TP53_ENST00000413465.2_Missense_Mutation_p.L137Q|TP53_ENST00000455263.2_Missense_Mutation_p.L137Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L137Q|TP53_ENST00000359597.4_Missense_Mutation_p.L137Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	137	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L137P(3)|p.C135fs*9(3)|p.N131fs*27(2)|p.L137Q(2)|p.V73fs*9(1)|p.L137_W146del10(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.L137_A138insX(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTCTTGGCCAGTTGGCAAAA	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		28	Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(5)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(7)|p.L137L(6)|p.L137P(3)|p.N131fs*27(2)|p.L137Q(2)|p.L137M(2)|p.V73fs*9(1)|p.L137_W146del10(1)|p.C135_T140delCQLAKT(1)|p.L137_A138insX(1)|p.L137fs*12(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.Q136_K139delQLAK(1)|p.L137fs*33(1)|p.L137V(1)	urinary_tract(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(3)|breast(3)|large_intestine(2)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)|lung(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(409-411)CTG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	53.0	53.0					17																	7578520		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578520A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.410T>A	17.37:g.7578520A>T	ENSP00000269305:p.Leu137Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L137Q|TP53_uc002gih.2_Missense_Mutation_p.L137Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L5Q|TP53_uc010cng.1_Missense_Mutation_p.L5Q|TP53_uc002gii.1_Missense_Mutation_p.L5Q|TP53_uc010cnh.1_Missense_Mutation_p.L137Q|TP53_uc010cni.1_Missense_Mutation_p.L137Q|TP53_uc002gij.2_Missense_Mutation_p.L137Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L44Q|TP53_uc002gio.2_Missense_Mutation_p.L5Q|TP53_uc010vug.1_Missense_Mutation_p.L98Q	p.L137Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	604	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	137		L -> M (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.410T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402473	0.83230	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.073543	0.56097	D	0.000037	D	0.99849	0.9930	M	0.85041	2.73	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	0.997;0.999;0.994;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.963;0.983;0.94;0.99;0.996;0.99;1.0	D	0.96447	0.9331	10	0.87932	D	0	-10.0012	13.8301	0.63375	1.0:0.0:0.0:0.0	.	98;137;137;44;137;137;137	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	137;137;137;137;137;137;126;44;5;44;5;137	ENSP00000410739:L137Q;ENSP00000352610:L137Q;ENSP00000269305:L137Q;ENSP00000398846:L137Q;ENSP00000391127:L137Q;ENSP00000391478:L137Q;ENSP00000425104:L5Q;ENSP00000423862:L44Q;ENSP00000424104:L137Q	ENSP00000269305:L137Q	L	-	2	0	TP53	7519245	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	CTG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	21	0	0	0	0	28	21				
DHX58	79132	broad.mit.edu	37	17	40256842	40256842	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:40256842A>C	ENST00000251642.3	-	11	1727	c.1505T>G	c.(1504-1506)cTg>cGg	p.L502R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	502	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCCATCAGCGTCTCCAG	0.632																																						uc002hyw.3		NA																	0					0						c.(1504-1506)CTG>CGG		RNA helicase LGP2							55.0	47.0	49.0					17																	40256842		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40256842A>C	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1505T>G	17.37:g.40256842A>C	ENSP00000251642:p.Leu502Arg					DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.L495R	p.L502R	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	1728	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	502			Potential.|Helicase C-terminal.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1505T>G	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819557	0.71028	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.05258	3.47	5.81	5.81	0.92471	Helicase, C-terminal (1);	0.079098	0.52532	D	0.000078	T	0.22589	0.0545	M	0.66506	2.035	0.53688	D	0.999979	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.945	T	0.00260	-1.1869	10	0.41790	T	0.15	.	15.3511	0.74389	1.0:0.0:0.0:0.0	.	495;502	B7Z455;Q96C10	.;DHX58_HUMAN	R	502;465	ENSP00000251642:L502R	ENSP00000251642:L502R	L	-	2	0	DHX58	37510368	1.000000	0.71417	0.950000	0.38849	0.272000	0.26649	7.403000	0.79983	2.224000	0.72417	0.460000	0.39030	CTG		0.632	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		7	17	0	0	0	0	7	17				
BRCA1	672	broad.mit.edu	37	17	41256883	41256883	+	Splice_Site	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:41256883A>C	ENST00000357654.3	-	5	420		c.e5+1		BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000309486.4_Splice_Site|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Splice_Site|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000493795.1_Splice_Site|BRCA1_ENST00000354071.3_Splice_Site|BRCA1_ENST00000346315.3_Splice_Site|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Splice_Site	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset						androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCAACACTTACACTCCAAAC	0.373			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.e5+1	Homologous_recombination	breast cancer 1, early onset isoform 1							96.0	86.0	89.0					17																	41256883		2203	4300	6503	SO:0001630	splice_region_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41256883A>C	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.301+1T>G	17.37:g.41256883A>C		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Splice_Site_p.Y54_splice|BRCA1_uc010whl.1_Splice_Site_p.Y101_splice|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Splice_Site_p.Y31_splice|BRCA1_uc002icu.2_Splice_Site_p.Y101_splice|BRCA1_uc010cyx.2_Splice_Site_p.Y54_splice|BRCA1_uc002ict.2_Splice_Site_p.Y101_splice|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Splice_Site_p.Y101_splice|BRCA1_uc010whr.1_Splice_Site_p.Y54_splice|BRCA1_uc002idd.2_Splice_Site_p.Y101_splice|BRCA1_uc002ide.1_Intron|BRCA1_uc010cyy.1_Splice_Site_p.Y101_splice|BRCA1_uc010whs.1_Splice_Site_p.Y101_splice|BRCA1_uc010cyz.2_Splice_Site_p.Y54_splice|BRCA1_uc010cza.2_Splice_Site_p.Y75_splice|BRCA1_uc010wht.1_Intron	p.Y101_splice	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	533	-		Breast(137;0.000717)						O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Splice_Site	SNP	ENST00000357654.3	37	c.301_splice	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287174	0.40494	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000473961;ENST00000476777;ENST00000489037	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1166	0.59303	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRCA1	38510409	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.366000	0.66122	2.225000	0.72522	0.460000	0.39030	.		0.373	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	Intron	28	47	0	0	0	0	28	47				
UBTF	7343	broad.mit.edu	37	17	42284865	42284865	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:42284865G>A	ENST00000302904.4	-	20	2618	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	UBTF_ENST00000393606.3_Missense_Mutation_p.S672F|UBTF_ENST00000343638.5_Missense_Mutation_p.S672F|UBTF_ENST00000533177.1_Missense_Mutation_p.S672F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Missense_Mutation_p.S709F|UBTF_ENST00000527034.1_Missense_Mutation_p.P671S|UBTF_ENST00000526094.1_Missense_Mutation_p.S672F|UBTF_ENST00000529383.1_Missense_Mutation_p.S709F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	709	Asp/Glu/Ser-rich (acidic).				chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGACTCAGAGGAGTCGCCGCC	0.607																																						uc002igb.2		NA																	0					0						c.(2125-2127)TCC>TTC		upstream binding transcription factor, RNA							171.0	116.0	134.0					17																	42284865		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42284865G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.2126C>T	17.37:g.42284865G>A	ENSP00000302640:p.Ser709Phe					UBTF_uc002igc.2_Missense_Mutation_p.S672F|UBTF_uc010czs.2_Missense_Mutation_p.S709F|UBTF_uc002igd.2_Missense_Mutation_p.S672F|UBTF_uc010czt.2_Missense_Mutation_p.S709F	p.S709F	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	19	2193	-		Breast(137;0.00765)|Prostate(33;0.0181)	709			Asp/Glu/Ser-rich (acidic).		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.2126C>T	CCDS11480.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086791|3.086791	0.55861|0.55861	.|.	.|.	ENSG00000108312|ENSG00000108312	ENST00000527034|ENST00000343638;ENST00000302904;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D|D;D;D;D;D;D;D	0.98633|0.98400	-5.04|-4.91;-4.18;-4.91;-4.18;-4.91;-4.91;-4.18	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.126948	.|0.53938	.|D	.|0.000047	D|D	0.98513|0.98513	0.9504|0.9504	L|L	0.53249|0.53249	1.67|1.67	0.42150|0.42150	D|D	0.991552|0.991552	.|D;D	.|0.69078	.|0.997;0.995	.|D;D	.|0.78314	.|0.991;0.979	D|D	0.99865|0.99865	1.1088|1.1088	7|10	0.18276|0.62326	T|D	0.48|0.03	-14.8225|-14.8225	18.196|18.196	0.89822|0.89822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|672;709	.|P17480-2;P17480	.|.;UBF1_HUMAN	S|F	671|672;709;672;709;672;672;709	ENSP00000431539:P671S|ENSP00000345297:S672F;ENSP00000302640:S709F;ENSP00000437180:S672F;ENSP00000390669:S709F;ENSP00000377231:S672F;ENSP00000432925:S672F;ENSP00000435708:S709F	ENSP00000431539:P671S|ENSP00000302640:S709F	P|S	-|-	1|2	0|0	UBTF|UBTF	39640391|39640391	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.424000|0.424000	0.31475|0.31475	6.310000|6.310000	0.72830|0.72830	2.639000|2.639000	0.89480|0.89480	0.491000|0.491000	0.48974|0.48974	CCT|TCC		0.607	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		17	27	0	0	0	0	17	27				
ITGB3	3690	broad.mit.edu	37	17	45360736	45360736	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:45360736C>T	ENST00000559488.1	+	3	198	c.182C>T	c.(181-183)tCa>tTa	p.S61L	ITGB3_ENST00000560629.1_Silent_p.L49L|ITGB3_ENST00000435993.2_Missense_Mutation_p.S14L|ITGB3_ENST00000571680.1_Missense_Mutation_p.S61L	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	61					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CCTCTGGGCTCACCTCGCTGT	0.567																																						uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(181-183)TCA>TTA		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						66.0	59.0	61.0					17																	45360736		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45360736C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.182C>T	17.37:g.45360736C>T	ENSP00000452786:p.Ser61Leu					ITGB3_uc002ili.1_Missense_Mutation_p.S61L|ITGB3_uc010wkr.1_RNA	p.S61L	NM_000212	NP_000203	P05106	ITB3_HUMAN			3	202	+			61			Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.182C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298682	0.60195	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92965	-3.14	5.88	4.91	0.64330	Integrin beta subunit, N-terminal (2);	0.320192	0.34314	N	0.004076	D	0.88183	0.6368	L	0.43554	1.36	0.32497	N	0.539384	B;B	0.12013	0.002;0.005	B;B	0.06405	0.002;0.002	D	0.87807	0.2629	10	0.87932	D	0	.	12.033	0.53408	0.0:0.9173:0.0:0.0827	.	61;61	P05106;Q2YFE1	ITB3_HUMAN;.	L	61;14	ENSP00000407801:S14L	ENSP00000262017:S61L	S	+	2	0	C17orf57	42715735	0.000000	0.05858	0.071000	0.20095	0.119000	0.20118	1.058000	0.30504	2.776000	0.95493	0.655000	0.94253	TCA		0.567	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		21	38	0	0	0	0	21	38				
IGF2BP1	10642	broad.mit.edu	37	17	47076479	47076479	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:47076479G>C	ENST00000290341.3	+	2	518	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E62Q|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGAAAGTAGAATTACAAGG	0.468																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2		NA																	0				kidney(1)	1						c.(184-186)GAA>CAA		insulin-like growth factor 2 mRNA binding							26.0	31.0	29.0					17																	47076479		2181	4282	6463	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47076479G>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.184G>C	17.37:g.47076479G>C	ENSP00000290341:p.Glu62Gln					IGF2BP1_uc010dbj.2_Missense_Mutation_p.E62Q	p.E62Q	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			2	518	+			62			RRM 1.		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.184G>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839431	0.91117	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.08008	3.14;3.14	4.69	4.69	0.59074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.057192	0.64402	D	0.000002	T	0.28532	0.0706	M	0.69823	2.125	0.38418	D	0.946119	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.944	T	0.02371	-1.1169	10	0.41790	T	0.15	-23.2472	17.7469	0.88423	0.0:0.0:1.0:0.0	.	62;62	C9JT33;Q9NZI8	.;IF2B1_HUMAN	Q	62	ENSP00000290341:E62Q;ENSP00000389135:E62Q	ENSP00000290341:E62Q	E	+	1	0	IGF2BP1	44431478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.453000	0.97619	2.590000	0.87494	0.655000	0.94253	GAA		0.468	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		6	28	0	0	0	0	6	28				
MKS1	54903	broad.mit.edu	37	17	56291137	56291137	+	Silent	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:56291137T>C	ENST00000393119.2	-	7	812	c.738A>G	c.(736-738)aaA>aaG	p.K246K	MKS1_ENST00000337050.7_Silent_p.K246K|MKS1_ENST00000546108.1_Silent_p.K43K|MKS1_ENST00000537529.2_Silent_p.K236K|MKS1_ENST00000313863.6_Silent_p.K246K	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	246					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGTAGGGTCCTTTGAGGCCCG	0.473																																						uc002ivr.1		NA																	0				ovary(1)	1						c.(736-738)AAA>AAG		Meckel syndrome type 1 protein isoform 1							138.0	138.0	138.0					17																	56291137		1947	4164	6111	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56291137T>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.738A>G	17.37:g.56291137T>C						MKS1_uc010wnq.1_Silent_p.K43K|MKS1_uc002ivs.1_Silent_p.K246K	p.K246K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			7	813	-			246					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.738A>G	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352478	0.24512	.	.	ENSG00000011143	ENST00000313863	.	.	.	6.01	3.78	0.43462	.	0.174523	0.64402	N	0.000009	T	0.37892	0.1020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08722	-1.0708	6	0.09843	T	0.71	-9.1924	8.261	0.31786	0.0:0.222:0.0:0.778	.	.	.	.	R	247	.	ENSP00000316631:K247R	K	-	2	0	MKS1	53646136	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.645000	0.37238	1.102000	0.41551	0.523000	0.50628	AAG		0.473	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		32	65	0	0	0	0	32	65				
TTYH2	94015	broad.mit.edu	37	17	72246094	72246094	+	Missense_Mutation	SNP	G	G	A	rs375427011		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr17:72246094G>A	ENST00000269346.4	+	9	1024	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TTYH2_ENST00000529107.1_Missense_Mutation_p.R296H|TTYH2_ENST00000441391.2_5'UTR|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	317						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCTTCCAGCGCGCACTTACC	0.642																																						uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(949-951)CGC>CAC		tweety 2 isoform 1		G	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	99.0	94.0	96.0		950,	5.1	1.0	17		96	0,8600		0,0,4300	no	missense,utr-5	TTYH2	NM_032646.5,NM_052869.1	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	317/535,	72246094	1,13005	2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72246094G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.950G>A	17.37:g.72246094G>A	ENSP00000269346:p.Arg317His					TTYH2_uc010wqw.1_Missense_Mutation_p.R296H|TTYH2_uc002jkd.2_5'UTR	p.R317H	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			9	981	+			317			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.950G>A	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647887	0.67358	2.27E-4	0.0	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.13089	2.62;2.62	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.985;0.989	T	0.53272	-0.8462	10	0.87932	D	0	-38.1555	17.2462	0.87029	0.0:0.0:1.0:0.0	.	296;317	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	H	317;296	ENSP00000269346:R317H;ENSP00000433089:R296H	ENSP00000269346:R317H	R	+	2	0	TTYH2	69757689	1.000000	0.71417	0.996000	0.52242	0.057000	0.15508	8.714000	0.91412	2.329000	0.79093	0.655000	0.94253	CGC		0.642	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			21	83	0	0	0	0	21	83				
CETN1	1068	broad.mit.edu	37	18	580762	580762	+	Silent	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr18:580762C>T	ENST00000327228.3	+	1	396	c.354C>T	c.(352-354)acC>acT	p.T118T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	118	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACGATGAGACCGGGAAGATCT	0.537																																						uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(352-354)ACC>ACT		centrin 1							82.0	86.0	85.0					18																	580762		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580762C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.354C>T	18.37:g.580762C>T							p.T118T	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	396	+			118			EF-hand 3.		B2R536	Silent	SNP	ENST00000327228.3	37	c.354C>T	CCDS11820.1																																																																																				0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		23	39	0	0	0	0	23	39				
LDLRAD4	753	broad.mit.edu	37	18	13621135	13621135	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr18:13621135A>C	ENST00000359446.5	+	4	669	c.201A>C	c.(199-201)caA>caC	p.Q67H	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.Q30H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.Q30H|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.Q67H|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.Q67H|LDLRAD4_ENST00000585931.1_5'UTR	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	67					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AGTTCGCCCAAATCATCATCA	0.602																																						uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(199-201)CAA>CAC		hypothetical protein LOC753 isoform alpha 1							234.0	177.0	196.0					18																	13621135		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13621135A>C	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.201A>C	18.37:g.13621135A>C	ENSP00000352420:p.Gln67His					C18orf1_uc002ksb.2_Missense_Mutation_p.Q67H|C18orf1_uc002kse.2_Missense_Mutation_p.Q30H|C18orf1_uc002ksf.2_Missense_Mutation_p.Q30H|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.Q9H|C18orf1_uc002ksi.1_Missense_Mutation_p.Q9H	p.Q67H	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	869	+			67			Helical; (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.201A>C	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173349	0.78452	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.30182	1.54;1.63	5.58	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.78801	2.425	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.994;0.997;0.994;0.997;0.998;0.997	T	0.55566	-0.8121	10	0.87932	D	0	-1.1406	10.3337	0.43837	0.2218:0.0:0.7782:0.0	.	9;9;30;30;67;67	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	H	67;67;30;30;9;9	ENSP00000354753:Q67H;ENSP00000382741:Q67H	ENSP00000352420:Q30H	Q	+	3	2	C18orf1	13611135	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.487000	0.45268	0.719000	0.32188	-0.177000	0.13119	CAA		0.602	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		47	95	0	0	0	0	47	95				
ZNF556	80032	broad.mit.edu	37	19	2877900	2877900	+	Missense_Mutation	SNP	A	A	G	rs201270528	byFrequency	TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:2877900A>G	ENST00000307635.2	+	4	1031	c.944A>G	c.(943-945)tAt>tGt	p.Y315C	ZNF556_ENST00000586426.1_Missense_Mutation_p.Y314C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	315					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAACCCTATAAGTGTGGA	0.527													A|||	2	0.000399361	0.0015	0.0	5008	,	,		21310	0.0		0.0	False		,,,				2504	0.0					uc002lwp.1		NA																	0				skin(3)	3						c.(943-945)TAT>TGT		zinc finger protein 556							52.0	50.0	51.0					19																	2877900		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877900A>G	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.944A>G	19.37:g.2877900A>G	ENSP00000302603:p.Tyr315Cys					ZNF556_uc002lwq.2_Missense_Mutation_p.Y314C	p.Y315C	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1031	+			315			C2H2-type 7.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.944A>G	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	A	6.759	0.508857	0.12883	.	.	ENSG00000172000	ENST00000307635	T	0.25414	1.8	2.3	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42063	0.1186	M	0.69185	2.1	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.15206	-1.0445	9	0.72032	D	0.01	.	4.3825	0.11300	0.702:0.0:0.0:0.298	.	315	Q9HAH1	ZN556_HUMAN	C	315	ENSP00000302603:Y315C	ENSP00000302603:Y315C	Y	+	2	0	ZNF556	2828900	0.000000	0.05858	0.253000	0.24343	0.149000	0.21700	0.869000	0.27996	0.902000	0.36520	0.334000	0.21626	TAT		0.527	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		6	36	0	0	0	0	6	36				
TLE2	7089	broad.mit.edu	37	19	3002388	3002388	+	Missense_Mutation	SNP	G	G	C	rs200084747	byFrequency	TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:3002388G>C	ENST00000262953.6	-	18	2272	c.2010C>G	c.(2008-2010)caC>caG	p.H670Q	TLE2_ENST00000591529.1_Missense_Mutation_p.H684Q|TLE2_ENST00000443826.3_Missense_Mutation_p.H548Q|TLE2_ENST00000426948.2_Missense_Mutation_p.H684Q|TLE2_ENST00000447365.2_Missense_Mutation_p.H337Q|TLE2_ENST00000455444.2_Missense_Mutation_p.H548Q|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.H671Q	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	670					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTCTCGTGGAGGTGCA	0.612																																						uc002lww.2		NA																	0					0						c.(2008-2010)CAC>CAG		transducin-like enhancer protein 2 isoform 1							31.0	36.0	34.0					19																	3002388		2178	4296	6474	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3002388G>C	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.2010C>G	19.37:g.3002388G>C	ENSP00000262953:p.His670Gln					TLE2_uc010xhb.1_Missense_Mutation_p.H337Q|TLE2_uc010dth.2_Missense_Mutation_p.H671Q|TLE2_uc010xhc.1_Missense_Mutation_p.H548Q|TLE2_uc010dti.2_Missense_Mutation_p.H684Q	p.H670Q	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2273	-			670			WD 5.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.2010C>G	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339945	0.60963	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;2.41	3.79	-2.5	0.06384	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053373	0.85682	N	0.000000	D	0.84356	0.5454	M	0.74546	2.27	0.45995	D	0.998807	B;D;D;B;B	0.89917	0.234;1.0;0.999;0.141;0.141	B;D;D;B;B	0.97110	0.062;1.0;0.998;0.063;0.063	T	0.80518	-0.1347	10	0.87932	D	0	-13.8452	4.6462	0.12574	0.5183:0.1736:0.3082:0.0	.	548;337;684;548;670	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	Q	670;548;219;664;337;548;684	ENSP00000262953:H670Q;ENSP00000413107:H548Q;ENSP00000406523:H337Q;ENSP00000392427:H548Q;ENSP00000392869:H684Q	ENSP00000262953:H670Q	H	-	3	2	TLE2	2953388	0.025000	0.19082	0.934000	0.37439	0.886000	0.51366	-0.686000	0.05161	-0.203000	0.10251	0.455000	0.32223	CAC		0.612	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		7	27	0	0	0	0	7	27				
C3	718	broad.mit.edu	37	19	6697422	6697422	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:6697422A>G	ENST00000245907.6	-	21	2821	c.2729T>C	c.(2728-2730)gTg>gCg	p.V910A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	910					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTGACTTCCACTTCCTGCAG	0.567																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(2728-2730)GTG>GCG		complement component 3 precursor							110.0	91.0	98.0					19																	6697422		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697422A>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2729T>C	19.37:g.6697422A>G	ENSP00000245907:p.Val910Ala						p.V910A	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2791	-			910					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2729T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980302	0.74474	.	.	ENSG00000125730	ENST00000245907	T	0.36699	1.24	5.96	5.96	0.96718	.	0.226654	0.42053	D	0.000761	T	0.62011	0.2393	M	0.81341	2.54	0.38317	D	0.943424	D	0.62365	0.991	D	0.67103	0.949	T	0.70208	-0.4935	10	0.87932	D	0	.	15.4272	0.75061	1.0:0.0:0.0:0.0	.	910	P01024	CO3_HUMAN	A	910	ENSP00000245907:V910A	ENSP00000245907:V910A	V	-	2	0	C3	6648422	0.986000	0.35501	1.000000	0.80357	0.213000	0.24496	8.395000	0.90188	2.284000	0.76573	0.528000	0.53228	GTG		0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		29	57	0	0	0	0	29	57				
ADAMTS10	81794	broad.mit.edu	37	19	8662012	8662012	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:8662012G>A	ENST00000597188.1	-	8	1169	c.899C>T	c.(898-900)aCt>aTt	p.T300I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.T300I|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GATCTCCAGAGTGGGCTGGGG	0.602																																						uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(898-900)ACT>ATT		ADAM metallopeptidase with thrombospondin type 1							89.0	81.0	84.0					19																	8662012		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8662012G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.899C>T	19.37:g.8662012G>A	ENSP00000471851:p.Thr300Ile					ADAMTS10_uc002mkk.1_5'UTR	p.T300I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			8	1173	-			300			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.899C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440428	0.83993	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.63417	-0.04	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	U	0.000000	T	0.67933	0.2946	N	0.22421	0.69	0.80722	D	1	D	0.65815	0.995	D	0.69142	0.962	T	0.67780	-0.5582	10	0.38643	T	0.18	.	18.1581	0.89700	0.0:0.0:1.0:0.0	.	300	Q9H324	ATS10_HUMAN	I	300;54	ENSP00000270328:T300I	ENSP00000270328:T300I	T	-	2	0	ADAMTS10	8568012	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	2.775000	0.47702	2.519000	0.84933	0.563000	0.77884	ACT		0.602	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		26	65	0	0	0	0	26	65				
CHERP	10523	broad.mit.edu	37	19	16638963	16638963	+	Silent	SNP	G	G	A	rs200951226		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:16638963G>A	ENST00000198939.6	-	9	1302	c.1266C>T	c.(1264-1266)caC>caT	p.H422H	CHERP_ENST00000544299.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Silent_p.H411H					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGATCTGGTCGTGTggcccgg	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15751	0.001		0.0	False		,,,				2504	0.0					uc002nei.1		NA																	0				ovary(2)	2						c.(1231-1233)CAC>CAT		calcium homeostasis endoplasmic reticulum							45.0	53.0	50.0					19																	16638963		1852	4084	5936	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16638963G>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1266C>T	19.37:g.16638963G>A						MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank	p.H411H	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			9	1307	-			411			Pro-rich.			Silent	SNP	ENST00000198939.6	37	c.1233C>T																																																																																					0.647	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		27	71	0	0	0	0	27	71				
ZNF567	163081	broad.mit.edu	37	19	37210259	37210259	+	Silent	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:37210259A>G	ENST00000536254.2	+	6	855	c.633A>G	c.(631-633)ggA>ggG	p.G211G	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.G180G|ZNF567_ENST00000585696.1_Silent_p.G180G|ZNF567_ENST00000392163.2_Silent_p.G180G|ZNF567_ENST00000588311.1_Silent_p.G180G			Q8N184	ZN567_HUMAN	zinc finger protein 567	211					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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATTTGGATATAATGACT	0.368																																						uc010xtl.1		NA																	0					0						c.(631-633)GGA>GGG		zinc finger protein 567							37.0	37.0	37.0					19																	37210259		2198	4298	6496	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210259A>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.633A>G	19.37:g.37210259A>G						ZNF567_uc002oeo.1_Silent_p.G211G|ZNF567_uc010xtk.1_Silent_p.G211G|ZNF567_uc002oep.3_Silent_p.G180G|ZNF567_uc002oeq.1_Silent_p.G180G	p.G211G	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	855	+	Esophageal squamous(110;0.198)		211			C2H2-type 1; degenerate.		B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.633A>G																																																																																					0.368	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		16	29	0	0	0	0	16	29				
LRFN1	57622	broad.mit.edu	37	19	39804929	39804929	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:39804929G>A	ENST00000248668.4	-	1	1047	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	350	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGTCCCCCCGGACCCGGGTC	0.692																																						uc002okw.2		NA																	0				ovary(2)	2						c.(1048-1050)CGG>TGG		leucine rich repeat and fibronectin type III							13.0	17.0	16.0					19																	39804929		2054	4171	6225	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804929G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1048C>T	19.37:g.39804929G>A	ENSP00000248668:p.Arg350Trp						p.R350W	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1048	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		350			Ig-like.|Extracellular (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1048C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287152	0.59867	.	.	ENSG00000128011	ENST00000248668	T	0.68479	-0.33	4.53	3.48	0.39840	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000815	T	0.73016	0.3533	L	0.47016	1.485	0.35182	D	0.772522	D	0.67145	0.996	D	0.64877	0.93	T	0.80420	-0.1390	10	0.66056	D	0.02	.	11.6123	0.51066	0.0:0.0:0.8206:0.1794	.	350	Q9P244	LRFN1_HUMAN	W	350	ENSP00000248668:R350W	ENSP00000248668:R350W	R	-	1	2	LRFN1	44496769	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.126000	0.42026	1.106000	0.41623	-0.182000	0.12963	CGG		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		9	13	0	0	0	0	9	13				
ZNF546	339327	broad.mit.edu	37	19	40520758	40520758	+	Silent	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:40520758T>C	ENST00000347077.4	+	7	1797	c.1581T>C	c.(1579-1581)tgT>tgC	p.C527C	ZNF546_ENST00000600094.1_Silent_p.C501C|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTACATATGTAACGAATGTG	0.403																																						uc002oms.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1579-1581)TGT>TGC		zinc finger protein 546							65.0	57.0	60.0					19																	40520758		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520758T>C	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1581T>C	19.37:g.40520758T>C						ZNF546_uc002omt.2_Silent_p.C501C	p.C527C	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	1837	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		527			C2H2-type 12.		A8K913	Silent	SNP	ENST00000347077.4	37	c.1581T>C	CCDS12548.1																																																																																				0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		23	41	0	0	0	0	23	41				
ZNF816	125893	broad.mit.edu	37	19	53454451	53454451	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:53454451G>C	ENST00000357666.4	-	5	877	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.Q193E	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAATTCTTTGGGATTCTGAA	0.378																																						uc002qal.1		NA																	0					0						c.(577-579)CAA>GAA		zinc finger protein 816A							82.0	97.0	92.0					19																	53454451		2202	4300	6502	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454451G>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.577C>G	19.37:g.53454451G>C	ENSP00000350295:p.Gln193Glu					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.Q177E	p.Q193E	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	878	-			193					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.577C>G	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	10.58	1.389541	0.25118	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06142	3.34;3.34	1.58	1.58	0.23477	.	.	.	.	.	T	0.06416	0.0165	M	0.62266	1.93	0.18873	N	0.999981	P	0.39782	0.688	B	0.28849	0.095	T	0.30297	-0.9983	9	0.72032	D	0.01	.	6.4764	0.22039	0.0:0.0:1.0:0.0	.	193	Q0VGE8	ZN816_HUMAN	E	193	ENSP00000350295:Q193E;ENSP00000403266:Q193E	ENSP00000350295:Q193E	Q	-	1	0	ZNF816	58146263	0.005000	0.15991	0.004000	0.12327	0.020000	0.10135	0.705000	0.25675	0.847000	0.35167	0.185000	0.17295	CAA		0.378	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		31	64	0	0	0	0	31	64				
MBOAT7	79143	broad.mit.edu	37	19	54692110	54692110	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:54692110G>T	ENST00000245615.1	-	3	647	c.167C>A	c.(166-168)aCc>aAc	p.T56N	TSEN34_ENST00000302937.4_5'Flank|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.H25Q|TSEN34_ENST00000396388.2_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.T56N|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.H25Q	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	56					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGAGGATGGTGACCAGAGA	0.642																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NA																	0					0						c.(166-168)ACC>AAC		membrane bound O-acyltransferase domain							56.0	63.0	61.0					19																	54692110		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692110G>T	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.167C>A	19.37:g.54692110G>T	ENSP00000245615:p.Thr56Asn					MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.T38N|MBOAT7_uc002qdr.2_Missense_Mutation_p.T56N|MBOAT7_uc002qds.2_Missense_Mutation_p.H25Q|MBOAT7_uc010yen.1_Missense_Mutation_p.H25Q|MBOAT7_uc002qdt.3_Missense_Mutation_p.T56N|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank	p.T56N	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			4	433	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		56			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.167C>A	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.548461|4.548461	0.86127|0.86127	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000431666;ENST00000338624|ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T|T;T;T	0.17213|0.43688	2.29;2.29|2.24;1.5;0.94	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|0.140330	.|0.47093	.|D	.|0.000260	T|T	0.58177|0.58177	0.2104|0.2104	.|.	.|.	.|.	0.30368|0.30368	N|N	0.783134|0.783134	P|D;D	0.46512|0.71674	0.879|0.993;0.998	P|P;P	0.45167|0.60345	0.472|0.738;0.873	T|T	0.62515|0.62515	-0.6838|-0.6838	8|9	0.28530|0.52906	T|T	0.3|0.07	-31.7589|-31.7589	15.4077|15.4077	0.74893|0.74893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25|38;56	Q96N66-2|B4DDH8;Q96N66	.|.;MBOA7_HUMAN	Q|N	25|56;8;56;56;56	ENSP00000410503:H25Q;ENSP00000344377:H25Q|ENSP00000245615:T56N;ENSP00000375634:T56N;ENSP00000388250:T56N	ENSP00000344377:H25Q|ENSP00000245615:T56N	H|T	-|-	3|2	2|0	MBOAT7|MBOAT7	59383922|59383922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	5.484000|5.484000	0.66844|0.66844	2.008000|2.008000	0.58898|0.58898	0.561000|0.561000	0.74099|0.74099	CAC|ACC		0.642	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		21	37	1	0	8.05e-18	3.49e-17	21	37				
CTNNA2	1496	broad.mit.edu	37	2	80782950	80782950	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:80782950T>C	ENST00000402739.4	+	11	1678	c.1673T>C	c.(1672-1674)aTg>aCg	p.M558T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M592T|CTNNA2_ENST00000466387.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M237T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M558T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	558					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						AATGCTGAGATGGAGAACTAT	0.512																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1672-1674)ATG>ACG		catenin, alpha 2 isoform 1							141.0	133.0	136.0					2																	80782950		1900	4130	6030	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.chr2:80782950T>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.1673T>C	2.37:g.80782950T>C	ENSP00000384638:p.Met558Thr					CTNNA2_uc010yse.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M190T	p.M558T	NM_004389	NP_004380	P26232	CTNA2_HUMAN			11	1678	+			558					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1673T>C		.	.	.	.	.	.	.	.	.	.	T	23.2	4.386791	0.82902	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	0.98;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;0.999;1.0	T	0.76575	-0.2909	9	.	.	.	.	15.9507	0.79835	0.0:0.0:0.0:1.0	.	190;558;558;558	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	T	558;558;592;558;558;558;237	ENSP00000418191:M558T;ENSP00000419295:M558T;ENSP00000355398:M592T;ENSP00000384638:M558T;ENSP00000444675:M558T;ENSP00000441705:M558T;ENSP00000341500:M237T	.	M	+	2	0	CTNNA2	80636461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.941000	0.87700	2.232000	0.73038	0.528000	0.53228	ATG		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		10	79	0	0	0	0	10	79				
GCG	2641	broad.mit.edu	37	2	163005678	163005678	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:163005678A>G	ENST00000418842.2	-	2	265	c.11T>C	c.(10-12)aTt>aCt	p.I4T	GCG_ENST00000375497.3_Missense_Mutation_p.I4T	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	4					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CACAAAGTAAATGCTTTTCAT	0.433																																						uc002ucc.2		NA																	0					0						c.(10-12)ATT>ACT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						114.0	111.0	112.0					2																	163005678		1851	4099	5950	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005678A>G		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.11T>C	2.37:g.163005678A>G	ENSP00000387662:p.Ile4Thr						p.I4T	NM_002054	NP_002045	P01275	GLUC_HUMAN			2	110	-			4					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.11T>C	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721211	0.30503	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.51071	0.72;0.72	4.95	4.95	0.65309	.	0.393637	0.28130	N	0.016494	T	0.39989	0.1099	L	0.47190	1.495	0.36582	D	0.873605	B	0.21071	0.051	B	0.14578	0.011	T	0.49688	-0.8913	10	0.87932	D	0	4.5738	9.3058	0.37874	0.9198:0.0:0.0802:0.0	.	4	P01275	GLUC_HUMAN	T	4	ENSP00000387662:I4T;ENSP00000364647:I4T	ENSP00000364647:I4T	I	-	2	0	GCG	162713924	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	4.728000	0.62000	2.090000	0.63153	0.482000	0.46254	ATT		0.433	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		59	114	0	0	0	0	59	114				
LRP2	4036	broad.mit.edu	37	2	170134277	170134277	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:170134277C>A	ENST00000263816.3	-	13	2035	c.1750G>T	c.(1750-1752)Gta>Tta	p.V584L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	584					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCATAAGTTACAGTTTCAATG	0.388																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1750-1752)GTA>TTA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						103.0	102.0	102.0					2																	170134277		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134277C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1750G>T	2.37:g.170134277C>A	ENSP00000263816:p.Val584Leu					LRP2_uc010zdf.1_Intron	p.V584L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1963	-			584			LDL-receptor class B 4.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1750G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242292	0.58995	.	.	ENSG00000081479	ENST00000263816	D	0.91124	-2.79	5.7	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);	0.247105	0.42682	D	0.000667	D	0.87132	0.6101	L	0.61036	1.89	0.80722	D	1	P	0.35612	0.512	B	0.28784	0.094	D	0.86505	0.1806	10	0.66056	D	0.02	.	11.0658	0.47974	0.0:0.8573:0.0:0.1427	.	584	P98164	LRP2_HUMAN	L	584	ENSP00000263816:V584L	ENSP00000263816:V584L	V	-	1	0	LRP2	169842523	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.244000	0.51399	1.402000	0.46780	0.555000	0.69702	GTA		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		25	43	1	0	4.27e-12	1.82e-11	25	43				
ARPC2	10109	broad.mit.edu	37	2	219099116	219099116	+	Silent	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:219099116A>G	ENST00000295685.10	+	4	525	c.264A>G	c.(262-264)gaA>gaG	p.E88E	ARPC2_ENST00000315717.5_Silent_p.E88E	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	88					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TAAATCCAGAATCAGGTATGT	0.328																																						uc002vhd.2		NA																	0				ovary(1)	1						c.(262-264)GAA>GAG		actin related protein 2/3 complex subunit 2							144.0	147.0	146.0					2																	219099116		2203	4300	6503	SO:0001819	synonymous_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099116A>G	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.264A>G	2.37:g.219099116A>G						ARPC2_uc002vhe.2_Silent_p.E88E|ARPC2_uc002vhf.2_5'Flank	p.E88E	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	376	+		Renal(207;0.0474)	88					Q92801|Q9P1D4	Silent	SNP	ENST00000295685.10	37	c.264A>G	CCDS2410.1																																																																																				0.328	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		19	45	0	0	0	0	19	45				
ACSL3	2181	broad.mit.edu	37	2	223773571	223773571	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:223773571T>A	ENST00000357430.3	+	4	612	c.81T>A	c.(79-81)caT>caA	p.H27Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.H27Q	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	27					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	ATTTTATACATTTTCTAATAT	0.289			T	ETV1	prostate																																	uc002vni.2		NA		Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				ovary(2)	2						c.(79-81)CAT>CAA		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						39.0	45.0	43.0					2																	223773571		2159	4274	6433	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223773571T>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.81T>A	2.37:g.223773571T>A	ENSP00000350012:p.His27Gln					ACSL3_uc002vnj.2_Missense_Mutation_p.H27Q	p.H27Q	NM_004457	NP_004448	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	4	532	+		Renal(207;0.0183)	27			Helical; Signal-anchor for type III membrane protein; (Potential).		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.81T>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294758	0.40594	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.32272	1.46;1.46	5.22	-3.01	0.05463	.	0.369884	0.29073	N	0.013239	T	0.19446	0.0467	L	0.48642	1.525	0.32386	N	0.553874	B	0.12630	0.006	B	0.12837	0.008	T	0.07539	-1.0767	10	0.30854	T	0.27	-4.9586	5.9365	0.19169	0.0:0.384:0.2673:0.3487	.	27	O95573	ACSL3_HUMAN	Q	27	ENSP00000350012:H27Q;ENSP00000375918:H27Q	ENSP00000350012:H27Q	H	+	3	2	ACSL3	223481815	0.931000	0.31567	0.986000	0.45419	0.990000	0.78478	0.121000	0.15667	-0.387000	0.07809	-0.261000	0.10672	CAT		0.289	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		19	39	0	0	0	0	19	39				
DGKD	8527	broad.mit.edu	37	2	234346041	234346041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:234346041G>T	ENST00000264057.2	+	8	850	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E236*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	280					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATCGTGTAAAGAATCCTTGCT	0.542																																						uc002vui.1		NA																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(838-840)GAA>TAA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						168.0	141.0	151.0					2																	234346041		2203	4300	6503	SO:0001587	stop_gained	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234346041G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.838G>T	2.37:g.234346041G>T	ENSP00000264057:p.Glu280*					DGKD_uc002vuj.1_Nonsense_Mutation_p.E236*|DGKD_uc010fyh.1_Nonsense_Mutation_p.E147*|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Nonsense_Mutation_p.E147*	p.E280*	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	8	850	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	280			Phorbol-ester/DAG-type 2.		Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.838G>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	38	6.920783	0.97936	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.96	4.96	0.65561	.	0.412335	0.22296	N	0.061931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	.	.	.	X	280;236	.	ENSP00000264057:E280X	E	+	1	0	DGKD	234010780	1.000000	0.71417	0.361000	0.25849	0.958000	0.62258	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAA		0.542	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		11	22	1	0	0.000978159	0.00377345	11	22				
LRRFIP1	9208	broad.mit.edu	37	2	238672160	238672160	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr2:238672160T>G	ENST00000392000.4	+	11	1921	c.1804T>G	c.(1804-1806)Tta>Gta	p.L602V	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.L546V|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.L578V	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	602					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAACACAGATTTAAGTGAAAT	0.363																																						uc002vxe.2		NA																	0				breast(3)	3						c.(1804-1806)TTA>GTA		leucine rich repeat (in FLII) interacting							51.0	54.0	53.0					2																	238672160		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238672160T>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1804T>G	2.37:g.238672160T>G	ENSP00000375857:p.Leu602Val					LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.L578V|LRRFIP1_uc002vxf.2_Missense_Mutation_p.L546V	p.L602V	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	11	2096	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	602					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1804T>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	T	8.202	0.798397	0.16397	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.09255	3.0;3.0;3.01	5.62	-6.27	0.02026	.	2.759500	0.02211	N	0.063153	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B;B;B	0.16802	0.019;0.011;0.019	B;B;B	0.12156	0.007;0.003;0.007	T	0.45338	-0.9268	10	0.02654	T	1	3.9616	11.6118	0.51064	0.0:0.148:0.5021:0.3499	.	546;602;578	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	V	546;578;602	ENSP00000289175:L546V;ENSP00000244815:L578V;ENSP00000375857:L602V	ENSP00000244815:L578V	L	+	1	2	LRRFIP1	238336899	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.745000	0.04834	-0.767000	0.04633	-0.313000	0.08912	TTA		0.363	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		5	11	0	0	0	0	5	11				
CDH26	60437	broad.mit.edu	37	20	58560126	58560126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr20:58560126C>T	ENST00000244047.5	+	7	1090	c.779C>T	c.(778-780)aCc>aTc	p.T260I	CDH26_ENST00000348616.4_Missense_Mutation_p.T260I			Q8IXH8	CAD26_HUMAN	cadherin 26	260	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCACGACCACCGTTCACGTG	0.547																																						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(778-780)ACC>ATC		cadherin-like 26 isoform a							67.0	57.0	60.0					20																	58560126		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58560126C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.779C>T	20.37:g.58560126C>T	ENSP00000244047:p.Thr260Ile					CDH26_uc010zzy.1_RNA	p.T260I	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		7	1079	+	all_lung(29;0.00963)		260			Cadherin 2.|Extracellular (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.779C>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.634992	0.47049	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.55234	0.53;0.53	4.44	1.43	0.22495	.	0.404404	0.27289	N	0.020058	T	0.53206	0.1782	M	0.66939	2.045	0.09310	N	1	P	0.39044	0.656	P	0.44946	0.465	T	0.49143	-0.8970	10	0.62326	D	0.03	.	8.1461	0.31113	0.0:0.764:0.0:0.236	.	260	Q8IXH8-4	.	I	260	ENSP00000244047:T260I;ENSP00000339390:T260I	ENSP00000244047:T260I	T	+	2	0	CDH26	57993521	0.006000	0.16342	0.002000	0.10522	0.036000	0.12997	0.709000	0.25734	0.336000	0.23639	0.591000	0.81541	ACC		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		8	42	0	0	0	0	8	42				
BAGE2	85319	broad.mit.edu	37	21	11049596	11049596	+	RNA	SNP	C	C	T	rs28571918	byFrequency	TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr21:11049596C>T	ENST00000470054.1	-	0	512							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGCTGTCGCACACTGCACAGT	0.373																																						uc002yit.1		NA																	0					0						c.(304-306)TGT>TAT		B melanoma antigen family, member 2 precursor							86.0	66.0	72.0					21																	11049596		692	1591	2283			85319							g.chr21:11049596C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049596C>T							p.C102Y	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	513	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.305G>A																																																																																					0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		27	110	0	0	0	0	27	110				
KRTAP13-1	140258	broad.mit.edu	37	21	31768590	31768590	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr21:31768590G>T	ENST00000355459.2	+	1	199	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	62	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.E62D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCTGGGAGCCCACCAGCT	0.612																																						uc002yoa.2		NA																	1	Substitution - Missense(1)	p.E62D(1)	ovary(1)	ovary(1)	1						c.(184-186)GAG>GAT		keratin associated protein 13-1							58.0	59.0	59.0					21																	31768590		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768590G>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.186G>T	21.37:g.31768590G>T	ENSP00000347635:p.Glu62Asp						p.E62D	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	199	+			62			5 X 10 AA approximate repeats.|2.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.186G>T	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442049	0.43326	.	.	ENSG00000198390	ENST00000355459	T	0.08458	3.09	4.51	0.72	0.18214	.	0.341119	0.20447	N	0.092171	T	0.11495	0.0280	M	0.83953	2.67	0.09310	N	1	B	0.22746	0.074	B	0.24701	0.055	T	0.20940	-1.0260	10	0.56958	D	0.05	.	4.3628	0.11210	0.3621:0.1599:0.478:0.0	.	62	Q8IUC0	KR131_HUMAN	D	62	ENSP00000347635:E62D	ENSP00000347635:E62D	E	+	3	2	KRTAP13-1	30690461	0.000000	0.05858	0.108000	0.21378	0.236000	0.25371	-0.813000	0.04491	0.119000	0.18210	0.557000	0.71058	GAG		0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			19	43	1	0	1.34e-09	5.53e-09	19	43				
PRDM15	63977	broad.mit.edu	37	21	43279700	43279700	+	Splice_Site	SNP	C	C	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr21:43279700C>A	ENST00000269844.3	-	9	1142		c.e9+1		PRDM15_ENST00000398548.1_Splice_Site|PRDM15_ENST00000447207.2_Splice_Site|PRDM15_ENST00000538201.1_Splice_Site|PRDM15_ENST00000422911.1_Splice_Site	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGGTCACTCACCTTGCCCTGC	0.612																																						uc002yzq.1		NA																	0					0						c.e9+1		PR domain containing 15 isoform 1							74.0	57.0	63.0					21																	43279700		2203	4300	6503	SO:0001630	splice_region_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43279700C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1031+1G>T	21.37:g.43279700C>A						PRDM15_uc002yzo.2_Splice_Site_p.R81_splice|PRDM15_uc002yzp.2_Splice_Site_p.R81_splice|PRDM15_uc002yzr.1_Splice_Site_p.R81_splice	p.R344_splice	NM_022115	NP_071398	P57071	PRD15_HUMAN			9	1142	-								E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Splice_Site	SNP	ENST00000269844.3	37	c.1031_splice	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313748	0.81358	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8732	0.88817	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM15	42152769	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.025000	0.76449	2.202000	0.70862	0.591000	0.81541	.		0.612	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	Intron	10	12	1	0	3.86e-05	0.000153229	10	12				
TFIP11	24144	broad.mit.edu	37	22	26902303	26902303	+	Silent	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:26902303G>A	ENST00000407690.1	-	6	769	c.486C>T	c.(484-486)taC>taT	p.Y162Y	TFIP11_ENST00000405938.1_Silent_p.Y162Y|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.Y162Y|TFIP11_ENST00000407431.1_Silent_p.Y162Y	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	162	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCCAGGGACGTAGCCCATCT	0.527																																						uc003acr.2		NA																	0					0						c.(484-486)TAC>TAT		tuftelin interacting protein 11							120.0	111.0	114.0					22																	26902303		2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902303G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.486C>T	22.37:g.26902303G>A						TFIP11_uc003acs.2_Silent_p.Y162Y|TFIP11_uc003act.2_Silent_p.Y162Y	p.Y162Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			5	860	-			162			G-patch.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.486C>T	CCDS13838.1																																																																																				0.527	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		14	86	0	0	0	0	14	86				
FBLN1	2192	broad.mit.edu	37	22	45944530	45944530	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:45944530C>G	ENST00000327858.6	+	13	1574	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	FBLN1_ENST00000402984.3_Missense_Mutation_p.I531M|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000340923.5_Missense_Mutation_p.I493M|FBLN1_ENST00000262722.7_Missense_Mutation_p.I493M|FBLN1_ENST00000442170.2_Missense_Mutation_p.I493M|FBLN1_ENST00000348697.2_Missense_Mutation_p.I493M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	493	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGGCCACATCTGCTCCTACC	0.652																																						uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1477-1479)ATC>ATG		fibulin 1 isoform D							82.0	63.0	69.0					22																	45944530		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944530C>G		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1479C>G	22.37:g.45944530C>G	ENSP00000331544:p.Ile493Met					FBLN1_uc003bgg.1_Missense_Mutation_p.I493M|FBLN1_uc003bgh.2_Missense_Mutation_p.I493M|FBLN1_uc010gzz.2_Missense_Mutation_p.I531M|FBLN1_uc003bgi.1_Missense_Mutation_p.I493M	p.I493M	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1626	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	493			EGF-like 8; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1479C>G	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085066	0.55861	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.87491	-1.63;-2.26;-2.26;-1.75;-1.69;-2.26	4.32	3.18	0.36537	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	N	0.20807	0.61	0.48395	D	0.999648	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	D	0.87706	0.2563	10	0.51188	T	0.08	.	12.8213	0.57694	0.2691:0.7309:0.0:0.0	.	531;493;493;493	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	M	493;531;493;493;493;493	ENSP00000262723:I493M;ENSP00000385521:I531M;ENSP00000262722:I493M;ENSP00000331544:I493M;ENSP00000393812:I493M;ENSP00000342212:I493M	ENSP00000262722:I493M	I	+	3	3	FBLN1	44323194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.646000	0.37249	1.956000	0.56807	0.462000	0.41574	ATC		0.652	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		13	38	0	0	0	0	13	38				
CCR8	1237	broad.mit.edu	37	3	39374725	39374725	+	Silent	SNP	T	T	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:39374725T>G	ENST00000326306.4	+	2	1041	c.903T>G	c.(901-903)gcT>gcG	p.A301A	CCR8_ENST00000545843.1_Silent_p.A218A|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	301					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTATCTATGCTTTTGTTGGGG	0.423																																						uc010hhr.2		NA																	0				ovary(1)|lung(1)	2						c.(901-903)GCT>GCG		chemokine (C-C motif) receptor 8							104.0	112.0	109.0					3																	39374725		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374725T>G	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.903T>G	3.37:g.39374725T>G						CCR8_uc003cjm.2_Silent_p.A218A	p.A301A	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	1041	+			301			Helical; Name=7; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.903T>G	CCDS2684.1																																																																																				0.423	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		20	27	0	0	0	0	20	27				
RBM6	10180	broad.mit.edu	37	3	50095370	50095370	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:50095370A>T	ENST00000266022.4	+	9	2162	c.1903A>T	c.(1903-1905)Act>Tct	p.T635S	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.T503S|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Missense_Mutation_p.T113S|RBM6_ENST00000422955.1_Missense_Mutation_p.T113S	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	635					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAAGGGCCAACTTTCCGAAG	0.517																																						uc003cyc.2		NA																	0				ovary(2)	2						c.(1903-1905)ACT>TCT		RNA binding motif protein 6							80.0	78.0	79.0					3																	50095370		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50095370A>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1903A>T	3.37:g.50095370A>T	ENSP00000266022:p.Thr635Ser					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.T154S|RBM6_uc003cyd.2_Missense_Mutation_p.T113S|RBM6_uc003cye.2_Missense_Mutation_p.T113S|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.T635S	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	9	2036	+			635					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1903A>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	9.195	1.027069	0.19512	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000422955;ENST00000446471	T;T;T;T	0.41065	1.01;1.59;1.59;1.01	5.71	-10.7	0.00240	.	1.485060	0.03790	N	0.262720	T	0.17662	0.0424	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10543	-1.0625	9	.	.	.	10.3506	0.6054	0.00752	0.1846:0.2722:0.1933:0.3499	.	503;635	E9PGM9;P78332	.;RBM6_HUMAN	S	113;635;503;113;113	ENSP00000393530:T113S;ENSP00000266022:T635S;ENSP00000396466:T503S;ENSP00000392939:T113S	.	T	+	1	0	RBM6	50070374	0.000000	0.05858	0.000000	0.03702	0.506000	0.33950	-1.491000	0.02302	-1.202000	0.02655	-0.341000	0.08007	ACT		0.517	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		6	10	0	0	0	0	6	10				
FOXP1	27086	broad.mit.edu	37	3	71026794	71026794	+	Splice_Site	SNP	C	C	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:71026794C>G	ENST00000318789.4	-	16	1953	c.1428G>C	c.(1426-1428)caG>caC	p.Q476H	FOXP1_ENST00000498215.1_Splice_Site_p.Q476H|FOXP1_ENST00000475937.1_Splice_Site_p.Q476H|FOXP1_ENST00000493089.1_Splice_Site_p.Q475H|FOXP1_ENST00000491238.1_Splice_Site_p.Q478H|FOXP1_ENST00000468577.1_Splice_Site_p.Q476H|FOXP1_ENST00000484350.1_Splice_Site_p.Q400H	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	476					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTTACTTACCTGCCTAATTA	0.323			T	PAX5	ALL																																	uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(1426-1428)CAG>CAC		forkhead box P1 isoform 1							121.0	124.0	123.0					3																	71026794		2203	4300	6503	SO:0001630	splice_region_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71026794C>G	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1428+1G>C	3.37:g.71026794C>G						FOXP1_uc003dom.2_Missense_Mutation_p.Q400H|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q475H|FOXP1_uc003dop.2_Missense_Mutation_p.Q476H|FOXP1_uc003doq.1_Missense_Mutation_p.Q475H|FOXP1_uc003doi.2_Missense_Mutation_p.Q376H|FOXP1_uc003doj.2_Missense_Mutation_p.Q376H|FOXP1_uc003dok.2_Missense_Mutation_p.Q289H|FOXP1_uc003dor.1_Missense_Mutation_p.Q253H	p.Q476H	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	12	1751	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	476			Fork-head.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1428G>C	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309551	0.81247	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	6.17	6.17	0.99709	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	M	0.76002	2.32	0.80722	D	1	B;D;D;P;P	0.71674	0.356;0.995;0.998;0.939;0.722	P;D;D;P;P	0.77004	0.549;0.989;0.989;0.599;0.566	D	0.96813	0.9598	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	475;475;475;400;476	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	H	476;288;476;476;372;478;475;476;400;476	ENSP00000318902:Q476H;ENSP00000419393:Q476H;ENSP00000418225:Q372H;ENSP00000420736:Q478H;ENSP00000418524:Q475H;ENSP00000418102:Q476H;ENSP00000417857:Q400H;ENSP00000418883:Q476H	.	Q	-	3	2	FOXP1	71109484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAG		0.323	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	Missense_Mutation	10	48	0	0	0	0	10	48				
RP11-93K22.13	0	broad.mit.edu	37	3	129811047	129811047	+	lincRNA	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:129811047A>T	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							CCTGCTGGTCAGCAGCACAAG	0.642																																						uc011bld.1		NA																	0					0						c.(235-237)AGC>TGC		asparagine-linked glycosylation 1-like 2							10.0	11.0	10.0					3																	129811047		688	1589	2277			644974				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129811047A>T																													3.37:g.129811047A>T						ALG1L2_uc010hth.2_RNA	p.S79C	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN			3	421	+			79						Missense_Mutation	SNP	ENST00000514010.1	37	c.235A>T																																																																																					0.642	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			3	9	0	0	0	0	3	9				
NME9	347736	broad.mit.edu	37	3	138037035	138037035	+	Silent	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:138037035G>A	ENST00000333911.3	-	4	249	c.222C>T	c.(220-222)ctC>ctT	p.L74L	NME9_ENST00000341790.5_Intron|NME9_ENST00000536478.1_Silent_p.L52L|NME9_ENST00000383180.2_Silent_p.L52L|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Silent_p.L52L			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	74	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTACTTTTCGAGGACATCAA	0.458																																						uc003esg.2		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(220-222)CTC>CTT		thioredoxin domain containing 6							126.0	110.0	115.0					3																	138037035		2203	4300	6503	SO:0001819	synonymous_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138037035G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.222C>T	3.37:g.138037035G>A						TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Silent_p.L52L	p.L74L	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			4	250	-			74			Thioredoxin.		Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37	c.222C>T		.	.	.	.	.	.	.	.	.	.	G	7.363	0.625179	0.14257	.	.	ENSG00000181322	ENST00000474690	.	.	.	4.97	-9.95	0.00446	.	.	.	.	.	.	.	.	.	.	.	0.26189	N	0.979614	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.743	2.0897	0.03654	0.426:0.3047:0.1071:0.1622	.	.	.	.	X	44	.	.	R	-	1	2	TXNDC6	139519725	0.005000	0.15991	0.415000	0.26534	0.843000	0.47879	-1.850000	0.01670	-1.901000	0.01096	0.491000	0.48974	CGA		0.458	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		46	32	0	0	0	0	46	32				
MUC4	4585	broad.mit.edu	37	3	195498614	195498614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr3:195498614G>A	ENST00000346145.4	-	4	482	c.443C>T	c.(442-444)aCa>aTa	p.T148I	MUC4_ENST00000475231.1_Missense_Mutation_p.T4384I|MUC4_ENST00000349607.4_Missense_Mutation_p.T97I|MUC4_ENST00000463781.3_Missense_Mutation_p.T4384I	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1141					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGAAGCCTGTTGGGAGTGG	0.557																																						uc011bto.1		NA																	0					0						c.(12766-12768)ACA>ATA		mucin 4 isoform a							113.0	109.0	110.0					3																	195498614		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195498614G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.443C>T	3.37:g.195498614G>A	ENSP00000304207:p.Thr148Ile					MUC4_uc003fuz.2_Nonsense_Mutation_p.Q64*|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Missense_Mutation_p.T125I|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Missense_Mutation_p.T125I|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.T148I|MUC4_uc003fvp.2_Missense_Mutation_p.T97I|MUC4_uc010hzu.1_Missense_Mutation_p.T996I	p.T4256I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	6	13227	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1141					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.12767C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.296796	0.40594	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38887	1.11;1.47;1.43;1.47	5.5	2.71	0.32032	.	0.888255	0.09601	N	0.780243	T	0.35682	0.0940	N	0.22421	0.69	0.09310	N	1	P;D;D;D	0.54397	0.92;0.957;0.966;0.966	B;B;P;P	0.50708	0.421;0.424;0.648;0.648	T	0.12760	-1.0535	10	0.38643	T	0.18	-1.3373	5.764	0.18217	0.0:0.5047:0.3207:0.1746	.	4256;1141;97;148	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	I	97;148;4384;4384;1110	ENSP00000338109:T97I;ENSP00000304207:T148I;ENSP00000417498:T4384I;ENSP00000420243:T4384I	ENSP00000304207:T148I	T	-	2	0	MUC4	196984248	0.000000	0.05858	0.113000	0.21522	0.170000	0.22686	0.103000	0.15292	0.303000	0.22785	-0.414000	0.06135	ACA		0.557	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		30	85	0	0	0	0	30	85				
KIAA0232	9778	broad.mit.edu	37	4	6864910	6864910	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:6864910A>G	ENST00000307659.5	+	7	3256	c.2801A>G	c.(2800-2802)tAt>tGt	p.Y934C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y934C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	934							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGAGGAGTTTATGGAGAACTC	0.443																																						uc003gjr.3		NA																	0				ovary(2)	2						c.(2800-2802)TAT>TGT		hypothetical protein LOC9778							81.0	76.0	78.0					4																	6864910		1906	4137	6043	SO:0001583	missense	9778						ATP binding	g.chr4:6864910A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2801A>G	4.37:g.6864910A>G	ENSP00000303928:p.Tyr934Cys					KIAA0232_uc003gjq.3_Missense_Mutation_p.Y934C	p.Y934C	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	3264	+			934					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2801A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256211	0.59321	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79310	-0.1856	9	0.87932	D	0	-9.7847	14.8047	0.69945	1.0:0.0:0.0:0.0	.	934	Q92628	K0232_HUMAN	C	934	.	ENSP00000303928:Y934C	Y	+	2	0	KIAA0232	6915811	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	8.632000	0.90995	2.145000	0.66743	0.533000	0.62120	TAT		0.443	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		10	37	0	0	0	0	10	37				
AGPAT9	84803	broad.mit.edu	37	4	84519214	84519214	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:84519214A>T	ENST00000395226.2	+	11	1225	c.1007A>T	c.(1006-1008)cAg>cTg	p.Q336L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.Q336L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	336					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TATAACCCTCAGTTCGGTGAT	0.433																																						uc003how.2		NA																	0				skin(1)	1						c.(1006-1008)CAG>CTG		1-acylglycerol-3-phosphate O-acyltransferase 9							117.0	111.0	113.0					4																	84519214		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519214A>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1007A>T	4.37:g.84519214A>T	ENSP00000378651:p.Gln336Leu					AGPAT9_uc003hox.2_Missense_Mutation_p.Q336L|AGPAT9_uc003hoy.2_Missense_Mutation_p.Q336L	p.Q336L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN			11	1225	+		Hepatocellular(203;0.114)	336					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.1007A>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286159	0.40394	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.92199	-2.99;-2.99	5.62	4.44	0.53790	.	0.309163	0.35772	N	0.002990	D	0.84795	0.5551	N	0.25031	0.7	0.48135	D	0.999593	B	0.27559	0.181	B	0.18561	0.022	T	0.80346	-0.1421	10	0.44086	T	0.13	-11.1519	11.4959	0.50408	0.9299:0.0:0.0701:0.0	.	336	Q53EU6	GPAT3_HUMAN	L	336	ENSP00000378651:Q336L;ENSP00000264409:Q336L	ENSP00000264409:Q336L	Q	+	2	0	AGPAT9	84738238	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.300000	0.59079	0.963000	0.38082	0.455000	0.32223	CAG		0.433	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		16	53	0	0	0	0	16	53				
UNC5C	8633	broad.mit.edu	37	4	96222757	96222757	+	Splice_Site	SNP	A	A	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:96222757A>T	ENST00000453304.1	-	3	838	c.490T>A	c.(490-492)Tat>Aat	p.Y164N	UNC5C_ENST00000506749.1_Splice_Site_p.Y164N|UNC5C_ENST00000504962.1_Splice_Site_p.Y164N	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	164	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATGACTCACATGCAATGCGC	0.483																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(490-492)TAT>AAT		unc5C precursor							117.0	97.0	103.0					4																	96222757		2203	4300	6503	SO:0001630	splice_region_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222757A>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.490+1T>A	4.37:g.96222757A>T						UNC5C_uc010ilc.1_Missense_Mutation_p.Y164N|UNC5C_uc003htq.2_Missense_Mutation_p.Y164N	p.Y164N	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	644	-		Hepatocellular(203;0.114)	164			Extracellular (Potential).|Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.490T>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086772	0.55861	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.27	5.27	0.74061	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.91354	3.2	0.80722	D	1	P;P;B	0.48640	0.913;0.651;0.421	P;B;B	0.48454	0.578;0.113;0.079	T	0.57159	-0.7859	9	.	.	.	.	15.4896	0.75593	1.0:0.0:0.0:0.0	.	164;164;164	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	N	164;123;164;164;164	ENSP00000406022:Y164N;ENSP00000426924:Y164N;ENSP00000426153:Y164N;ENSP00000425117:Y164N	.	Y	-	1	0	UNC5C	96441780	1.000000	0.71417	0.997000	0.53966	0.803000	0.45373	7.526000	0.81920	2.122000	0.65172	0.528000	0.53228	TAT		0.483	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	Missense_Mutation	13	60	0	0	0	0	13	60				
NDNF	79625	broad.mit.edu	37	4	121958534	121958534	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:121958534G>T	ENST00000379692.4	-	4	1118	c.592C>A	c.(592-594)Cca>Aca	p.P198T	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	198					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGGGCTTGGTTTCCAGGCC	0.493																																						uc003idq.1		NA																	0					0						c.(592-594)CCA>ACA		hypothetical protein LOC79625 precursor							204.0	208.0	207.0					4																	121958534		2149	4274	6423	SO:0001583	missense	79625							g.chr4:121958534G>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.592C>A	4.37:g.121958534G>T	ENSP00000369014:p.Pro198Thr						p.P198T	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1119	-			198					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.592C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684637	0.68157	.	.	ENSG00000173376	ENST00000379692	T	0.58940	0.3	5.84	5.84	0.93424	.	0.048339	0.85682	D	0.000000	T	0.61198	0.2328	M	0.64997	1.995	0.80722	D	1	P	0.35468	0.503	B	0.36719	0.231	T	0.63193	-0.6692	10	0.62326	D	0.03	-23.8471	20.1346	0.98019	0.0:0.0:1.0:0.0	.	198	Q8TB73	NDNF_HUMAN	T	198	ENSP00000369014:P198T	ENSP00000369014:P198T	P	-	1	0	NDNF	122177984	1.000000	0.71417	0.643000	0.29450	0.966000	0.64601	8.028000	0.88798	2.765000	0.95021	0.655000	0.94253	CCA		0.493	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		16	115	1	0	3.33e-07	1.35e-06	16	115				
TNIP3	79931	broad.mit.edu	37	4	122063056	122063056	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:122063056G>T	ENST00000509841.1	-	12	1109	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	TNIP3_ENST00000507879.1_Missense_Mutation_p.P337H|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000454328.1_Missense_Mutation_p.P267H|TNIP3_ENST00000057513.3_Missense_Mutation_p.P267H	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCAGTTACAGGGTGGGCAATA	0.507																																						uc010ing.2		NA																	0				ovary(1)	1						c.(799-801)CCC>CAC		TNFAIP3 interacting protein 3							79.0	74.0	75.0					4																	122063056		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122063056G>T	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.1031C>A	4.37:g.122063056G>T	ENSP00000426613:p.Pro344His					TNIP3_uc010inh.2_Missense_Mutation_p.P267H|TNIP3_uc011cgj.1_Missense_Mutation_p.P325H	p.P267H	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			9	996	-			267						Missense_Mutation	SNP	ENST00000509841.1	37	c.800C>A	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366468	0.41902	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.44482	0.95;0.95;0.92;0.92	4.56	1.87	0.25490	.	1.409360	0.04330	N	0.352160	T	0.42200	0.1192	L	0.34521	1.04	0.09310	N	1	B;D	0.54964	0.284;0.969	B;P	0.49528	0.298;0.614	T	0.30327	-0.9982	10	0.72032	D	0.01	1.6527	7.0469	0.25050	0.3019:0.0:0.6981:0.0	.	337;267	B4DVF5;Q96KP6	.;TNIP3_HUMAN	H	267;267;337;344	ENSP00000057513:P267H;ENSP00000411817:P267H;ENSP00000427106:P337H;ENSP00000426613:P344H	ENSP00000057513:P267H	P	-	2	0	TNIP3	122282506	0.518000	0.26234	0.115000	0.21578	0.123000	0.20343	0.874000	0.28065	0.238000	0.21222	0.655000	0.94253	CCC		0.507	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		7	40	1	0	7.48e-07	3.02e-06	7	40				
PLK4	10733	broad.mit.edu	37	4	128814677	128814677	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr4:128814677A>G	ENST00000270861.5	+	12	2606	c.2332A>G	c.(2332-2334)Att>Gtt	p.I778V	PLK4_ENST00000515069.1_Missense_Mutation_p.I700V|PLK4_ENST00000507249.1_Missense_Mutation_p.I717V|PLK4_ENST00000513090.1_Missense_Mutation_p.I746V|PLK4_ENST00000514379.1_Missense_Mutation_p.I737V|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	778					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGTCATCGTATTTGTTTAGC	0.338																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NA																	0					0						c.(2332-2334)ATT>GTT		polo-like kinase 4							84.0	87.0	86.0					4																	128814677		2203	4299	6502	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814677A>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2332A>G	4.37:g.128814677A>G	ENSP00000270861:p.Ile778Val					PLK4_uc011cgs.1_Missense_Mutation_p.I746V|PLK4_uc011cgt.1_Missense_Mutation_p.I737V	p.I778V	NM_014264	NP_055079	O00444	PLK4_HUMAN			12	2577	+			778					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2332A>G	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	7.858	0.725475	0.15439	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.42900	1.59;1.59;1.59;1.59;1.59;0.96	5.08	-0.198	0.13224	.	0.247276	0.46442	N	0.000290	T	0.27489	0.0675	L	0.54323	1.7	0.27655	N	0.947251	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.001	T	0.19943	-1.0290	10	0.08837	T	0.75	-11.985	5.0239	0.14374	0.5818:0.0:0.2895:0.1287	.	746;778	O00444-2;O00444	.;PLK4_HUMAN	V	778;700;746;717;737;24	ENSP00000270861:I778V;ENSP00000421774:I700V;ENSP00000427554:I746V;ENSP00000423412:I717V;ENSP00000423582:I737V;ENSP00000427568:I24V	ENSP00000270861:I778V	I	+	1	0	PLK4	129034127	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.390000	0.34464	0.391000	0.25143	-0.242000	0.12053	ATT		0.338	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			11	50	0	0	0	0	11	50				
ROPN1L	83853	broad.mit.edu	37	5	10448390	10448390	+	Silent	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:10448390G>A	ENST00000503804.1	+	3	671	c.150G>A	c.(148-150)tcG>tcA	p.S50S	ROPN1L_ENST00000274134.4_Silent_p.S50S|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	50					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.S50S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CAGCTCTGTCGAGAGGAGATC	0.423																																						uc003jex.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(148-150)TCG>TCA		ropporin 1-like							72.0	72.0	72.0					5																	10448390		2203	4300	6503	SO:0001819	synonymous_variant	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10448390G>A	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.150G>A	5.37:g.10448390G>A							p.S50S	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			2	421	+			50					D3DTC9|Q9BZX0	Silent	SNP	ENST00000503804.1	37	c.150G>A	CCDS3879.1																																																																																				0.423	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		24	48	0	0	0	0	24	48				
LIFR	3977	broad.mit.edu	37	5	38493875	38493875	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:38493875A>G	ENST00000263409.4	-	14	2060	c.1898T>C	c.(1897-1899)aTa>aCa	p.I633T	LIFR_ENST00000453190.2_Missense_Mutation_p.I633T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	633	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> M (in dbSNP:rs2303743).		cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACTTGTTCTATTTTGAGATC	0.383			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(1897-1899)ATA>ACA		leukemia inhibitory factor receptor precursor							108.0	97.0	101.0					5																	38493875		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493875A>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1898T>C	5.37:g.38493875A>G	ENSP00000263409:p.Ile633Thr					LIFR_uc003jli.2_Missense_Mutation_p.I633T	p.I633T	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			14	2230	-	all_lung(31;0.00021)		633			Fibronectin type-III 5.|Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1898T>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	3.545	-0.092818	0.07053	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56275	0.47;0.47	5.59	4.43	0.53597	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.628338	0.17630	N	0.167412	T	0.28067	0.0692	N	0.12182	0.205	0.22693	N	0.998847	B	0.09022	0.002	B	0.06405	0.002	T	0.22173	-1.0224	10	0.08381	T	0.77	-7.6708	6.7305	0.23381	0.7461:0.0:0.2539:0.0	.	633	P42702	LIFR_HUMAN	T	633	ENSP00000263409:I633T;ENSP00000398368:I633T	ENSP00000263409:I633T	I	-	2	0	LIFR	38529632	0.990000	0.36364	0.929000	0.37066	0.164000	0.22412	2.192000	0.42649	1.064000	0.40671	-0.326000	0.08463	ATA		0.383	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		20	34	0	0	0	0	20	34				
PCDHB5	26167	broad.mit.edu	37	5	140517214	140517214	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:140517214G>C	ENST00000231134.5	+	1	2415	c.2198G>C	c.(2197-2199)gGg>gCg	p.G733A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	733					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCAGGGCATCTGGTG	0.652																																						uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(2197-2199)GGG>GCG		protocadherin beta 5 precursor							86.0	103.0	97.0					5																	140517214		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517214G>C	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2198G>C	5.37:g.140517214G>C	ENSP00000231134:p.Gly733Ala						p.G733A	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2415	+			733			Cytoplasmic (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2198G>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112759	0.56398	.	.	ENSG00000113209	ENST00000231134	T	0.47869	0.83	4.56	4.56	0.56223	.	.	.	.	.	T	0.69061	0.3069	M	0.88570	2.965	0.09310	N	1	D	0.60160	0.987	P	0.58721	0.844	T	0.63906	-0.6531	9	0.66056	D	0.02	.	13.2411	0.59997	0.0:0.0:1.0:0.0	.	733	Q9Y5E4	PCDB5_HUMAN	A	733	ENSP00000231134:G733A	ENSP00000231134:G733A	G	+	2	0	PCDHB5	140497398	0.000000	0.05858	0.027000	0.17364	0.003000	0.03518	0.140000	0.16056	2.268000	0.75426	0.505000	0.49811	GGG		0.652	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		56	79	0	0	0	0	56	79				
JAKMIP2	9832	broad.mit.edu	37	5	147040903	147040903	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr5:147040903C>T	ENST00000265272.5	-	3	702	c.235G>A	c.(235-237)Gag>Aag	p.E79K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E79K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E37K	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	79						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTCTCCTCATGGAGCTTG	0.517																																						uc003loq.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(235-237)GAG>AAG		janus kinase and microtubule interacting protein							163.0	151.0	155.0					5																	147040903		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040903C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.235G>A	5.37:g.147040903C>T	ENSP00000265272:p.Glu79Lys					JAKMIP2_uc011dbx.1_Missense_Mutation_p.E37K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E79K|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.E79K	p.E79K	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	617	-			79			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.235G>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554175	0.86231	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.57107	0.42;0.42;0.42	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.63655	-0.6588	10	0.23302	T	0.38	.	18.1501	0.89672	0.0:1.0:0.0:0.0	.	37;79;79;79	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	K	79;79;37;79	ENSP00000421398:E79K;ENSP00000265272:E79K;ENSP00000328989:E37K	ENSP00000265272:E79K	E	-	1	0	JAKMIP2	147021096	1.000000	0.71417	0.994000	0.49952	0.848000	0.48234	7.445000	0.80570	2.460000	0.83146	0.462000	0.41574	GAG		0.517	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		64	65	0	0	0	0	64	65				
C6orf10	10665	broad.mit.edu	37	6	32337718	32337718	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:32337718A>C	ENST00000447241.2	-	2	228	c.56T>G	c.(55-57)aTc>aGc	p.I19S	C6orf10_ENST00000527965.1_Missense_Mutation_p.I19S|C6orf10_ENST00000442822.2_Missense_Mutation_p.I19S|C6orf10_ENST00000533191.1_Missense_Mutation_p.I19S|C6orf10_ENST00000375015.4_Missense_Mutation_p.I19S|C6orf10_ENST00000375007.4_Missense_Mutation_p.I19S	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	19						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AATAGCCAGGATGGCAAGTCC	0.403																																						uc011dpy.1		NA																	0				skin(1)	1						c.(55-57)ATC>AGC		chromosome 6 open reading frame 10							186.0	196.0	192.0					6																	32337718		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32337718A>C	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.56T>G	6.37:g.32337718A>C	ENSP00000415517:p.Ile19Ser					C6orf10_uc011dpz.1_Missense_Mutation_p.I19S	p.I19S	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			2	229	-			19			Helical; (Potential).		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.56T>G	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.912254	0.52439	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725;ENST00000532023;ENST00000534588	T;T;T;T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17	4.57	3.43	0.39272	.	.	.	.	.	T	0.11410	0.0278	L	0.58101	1.795	0.28346	N	0.92112	D;D	0.76494	0.998;0.999	D;D	0.74023	0.919;0.982	T	0.08411	-1.0723	9	0.87932	D	0	-17.8105	6.2596	0.20893	0.8901:0.0:0.1099:0.0	.	19;19	E9PMB1;Q5SRN2	.;CF010_HUMAN	S	19;19;19;19;19;19;19;18;19;19	ENSP00000411164:I19S;ENSP00000415517:I19S;ENSP00000364155:I19S;ENSP00000431199:I19S;ENSP00000435103:I19S;ENSP00000364146:I19S;ENSP00000432814:I19S;ENSP00000432566:I19S	ENSP00000303292:I18S	I	-	2	0	C6orf10	32445696	0.999000	0.42202	0.996000	0.52242	0.835000	0.47333	2.242000	0.43106	2.022000	0.59522	0.523000	0.50628	ATC		0.403	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		64	102	0	0	0	0	64	102				
PHF3	23469	broad.mit.edu	37	6	64422440	64422440	+	Silent	SNP	T	T	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:64422440T>A	ENST00000262043.3	+	16	5296	c.4956T>A	c.(4954-4956)ccT>ccA	p.P1652P	PHF3_ENST00000393387.1_Silent_p.P1652P			Q92576	PHF3_HUMAN	PHD finger protein 3	1652					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAGGGATCCTAGGCAAGCAG	0.453																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(4954-4956)CCT>CCA		PHD finger protein 3							50.0	49.0	49.0					6																	64422440		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422440T>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4956T>A	6.37:g.64422440T>A						PHF3_uc003pen.2_Silent_p.P1564P|PHF3_uc011dxs.1_Silent_p.P921P	p.P1652P	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4982	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1652					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.4956T>A	CCDS4966.1																																																																																				0.453	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			10	27	0	0	0	0	10	27				
SIM1	6492	broad.mit.edu	37	6	100838366	100838366	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:100838366G>T	ENST00000369208.3	-	12	2954	c.2172C>A	c.(2170-2172)agC>agA	p.S724R	SIM1_ENST00000262901.4_Missense_Mutation_p.S724R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	724	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TAATGGTTTCGCTGTCATATA	0.463																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(2170-2172)AGC>AGA		single-minded homolog 1							162.0	149.0	154.0					6																	100838366		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838366G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2172C>A	6.37:g.100838366G>T	ENSP00000358210:p.Ser724Arg					SIM1_uc010kcu.2_Missense_Mutation_p.S724R	p.S724R	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2379	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	724			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2172C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090761	0.36855	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03635	3.86;3.86	6.1	-8.25	0.01025	Single-minded, C-terminal (1);	0.326850	0.41194	D	0.000936	T	0.00906	0.0030	N	0.14661	0.345	0.30689	N	0.75154	B	0.15473	0.013	B	0.17433	0.018	T	0.39781	-0.9597	10	0.66056	D	0.02	.	18.2369	0.89952	0.8718:0.0:0.1282:0.0	.	724	P81133	SIM1_HUMAN	R	724	ENSP00000358210:S724R;ENSP00000262901:S724R	ENSP00000262901:S724R	S	-	3	2	SIM1	100945087	0.000000	0.05858	0.769000	0.31535	0.996000	0.88848	-1.927000	0.01561	-1.377000	0.02123	-0.133000	0.14855	AGC		0.463	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		17	83	1	0	0.000566183	0.00220157	17	83				
GPR126	57211	broad.mit.edu	37	6	142718817	142718817	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:142718817C>G	ENST00000230173.6	+	10	1968	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	GPR126_ENST00000367609.3_Missense_Mutation_p.Q498E|GPR126_ENST00000296932.8_Missense_Mutation_p.Q470E|GPR126_ENST00000367608.2_Missense_Mutation_p.Q470E	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	498					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAAAATCATTCAGCAGAAGCT	0.373																																						uc010khc.2		NA																	0				ovary(1)	1						c.(1492-1494)CAG>GAG		G protein-coupled receptor 126 alpha 1							75.0	74.0	74.0					6																	142718817		1823	4075	5898	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142718817C>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1492C>G	6.37:g.142718817C>G	ENSP00000230173:p.Gln498Glu					GPR126_uc010khd.2_Missense_Mutation_p.Q470E|GPR126_uc010khe.2_Missense_Mutation_p.Q498E|GPR126_uc010khf.2_Missense_Mutation_p.Q470E	p.Q498E	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	10	1903	+	Breast(32;0.176)		498			Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1492C>G	CCDS47490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.993|8.993	0.978100|0.978100	0.18812|0.18812	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000508295|ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	.|T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82	5.54|5.54	-0.0138|-0.0138	0.13982|0.13982	.|.	.|0.539313	.|0.18190	.|N	.|0.148854	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.38531|0.38531	1.155|1.155	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B;B;B	.|0.06786	.|0.001;0.001;0.001;0.0	.|B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.001	T|T	0.34229|0.34229	-0.9837|-0.9837	5|10	.|0.20519	.|T	.|0.43	.|.	9.2859|9.2859	0.37758|0.37758	0.1073:0.3064:0.523:0.0633|0.1073:0.3064:0.523:0.0633	.|.	.|470;498;470;498	.|Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.|.;.;.;GP126_HUMAN	L|E	72|498;470;470;498	.|ENSP00000230173:Q498E;ENSP00000356580:Q470E;ENSP00000296932:Q470E;ENSP00000356581:Q498E	.|ENSP00000230173:Q498E	F|Q	+|+	3|1	2|0	GPR126|GPR126	142760510|142760510	0.992000|0.992000	0.36948|0.36948	0.984000|0.984000	0.44739|0.44739	0.793000|0.793000	0.44817|0.44817	0.151000|0.151000	0.16283|0.16283	0.052000|0.052000	0.16007|0.16007	0.650000|0.650000	0.86243|0.86243	TTC|CAG		0.373	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			5	36	0	0	0	0	5	36				
SYNE1	23345	broad.mit.edu	37	6	152757214	152757214	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:152757214C>T	ENST00000367255.5	-	33	4773	c.4172G>A	c.(4171-4173)aGt>aAt	p.S1391N	SYNE1_ENST00000341594.5_Missense_Mutation_p.S1457N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1381N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1391N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1391					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTGCAATACTTTCTGTCCG	0.398										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4171-4173)AGT>AAT		spectrin repeat containing, nuclear envelope 1							100.0	93.0	96.0					6																	152757214		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757214C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4172G>A	6.37:g.152757214C>T	ENSP00000356224:p.Ser1391Asn	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S1398N|SYNE1_uc003qou.3_Missense_Mutation_p.S1391N|SYNE1_uc010kjb.1_Missense_Mutation_p.S1374N|SYNE1_uc003qow.2_Missense_Mutation_p.S686N|SYNE1_uc003qox.1_Missense_Mutation_p.S907N	p.S1391N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4774	-		Ovarian(120;0.0955)	1391			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4172G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018262	0.07681	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87809	0.68;0.68;0.59;0.68;0.76;-2.16;-2.3;-2.3	5.91	-0.564	0.11774	.	0.550815	0.17080	N	0.187834	T	0.56352	0.1979	N	0.22421	0.69	0.35258	D	0.779297	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.0;0.001;0.001;0.0;0.002	T	0.19745	-1.0296	10	0.11182	T	0.66	.	9.2385	0.37481	0.0:0.6211:0.1411:0.2377	.	1374;1391;1381;1391;1391;1398	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1391;1398;1391;1398;1457;1391;1381;1391	ENSP00000356224:S1391N;ENSP00000396024:S1398N;ENSP00000265368:S1391N;ENSP00000390975:S1398N;ENSP00000341887:S1457N;ENSP00000356222:S1391N;ENSP00000356217:S1381N;ENSP00000414510:S1391N	ENSP00000265368:S1391N	S	-	2	0	SYNE1	152798907	0.696000	0.27757	0.525000	0.27900	0.731000	0.41821	1.066000	0.30604	-0.264000	0.09365	-1.628000	0.00784	AGT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	47	0	0	0	0	7	47				
SYNJ2	8871	broad.mit.edu	37	6	158516842	158516842	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr6:158516842C>T	ENST00000355585.4	+	27	4012	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S	SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1268S|SYNJ2_ENST00000367112.1_Missense_Mutation_p.P398S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1313	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGAAGCCCCTCCTGGGGCAGG	0.632																																						uc003qqx.1		NA																	0				skin(1)	1						c.(3937-3939)CCT>TCT		synaptojanin 2							42.0	51.0	48.0					6																	158516842		2202	4300	6502	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516842C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3937C>T	6.37:g.158516842C>T	ENSP00000347792:p.Pro1313Ser					SYNJ2_uc003qqy.1_Missense_Mutation_p.P1026S|SYNJ2_uc003qqz.1_Missense_Mutation_p.P930S|SYNJ2_uc003qra.1_Missense_Mutation_p.P656S|SYNJ2_uc010kjp.1_Missense_Mutation_p.P196S	p.P1313S	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4012	+			1313			Catalytic (By similarity).|Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3937C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994503	0.19043	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92495	-3.05;-2.93;1.04	5.58	0.0413	0.14213	.	1.425180	0.04117	N	0.315649	T	0.64349	0.2590	N	0.21097	0.63	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.12156	0.007;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	2.6071	0.04881	0.1084:0.4051:0.2612:0.2253	.	708;1313	B4DLC4;O15056	.;SYNJ2_HUMAN	S	1268;1313;398	ENSP00000356089:P1268S;ENSP00000347792:P1313S;ENSP00000356079:P398S	ENSP00000347792:P1313S	P	+	1	0	SYNJ2	158436830	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.039000	0.12124	0.323000	0.23307	-0.145000	0.13849	CCT		0.632	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	56	0	0	0	0	6	56				
SEMA3E	9723	broad.mit.edu	37	7	83119474	83119474	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr7:83119474C>G	ENST00000307792.3	-	2	699	c.232G>C	c.(232-234)Gta>Cta	p.V78L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V18L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	78	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGGAATATACAAGGTCCCTG	0.413																																						uc003uhy.1		NA																	0		p.V78V(1)		ovary(3)	3						c.(232-234)GTA>CTA		semaphorin 3E precursor							87.0	81.0	83.0					7																	83119474		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119474C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.232G>C	7.37:g.83119474C>G	ENSP00000303212:p.Val78Leu						p.V78L	NM_012431	NP_036563	O15041	SEM3E_HUMAN			2	698	-		Medulloblastoma(109;0.109)	78			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.232G>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382947	0.25031	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.19669	2.13;2.13;2.13	5.92	3.08	0.35506	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.483758	0.22031	N	0.065589	T	0.07234	0.0183	N	0.03948	-0.315	0.28504	N	0.913877	B	0.02656	0.0	B	0.04013	0.001	T	0.37009	-0.9724	10	0.09843	T	0.71	.	6.4529	0.21914	0.125:0.4474:0.3591:0.0685	.	78	O15041	SEM3E_HUMAN	L	78;18;78;18	ENSP00000303212:V78L;ENSP00000405052:V18L;ENSP00000412867:V18L	ENSP00000303212:V78L	V	-	1	0	SEMA3E	82957410	0.998000	0.40836	0.996000	0.52242	0.995000	0.86356	0.623000	0.24447	0.377000	0.24735	0.585000	0.79938	GTA		0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		8	45	0	0	0	0	8	45				
MUC17	140453	broad.mit.edu	37	7	100682562	100682562	+	Missense_Mutation	SNP	G	G	T	rs371470717		TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr7:100682562G>T	ENST00000306151.4	+	3	7929	c.7865G>T	c.(7864-7866)aGc>aTc	p.S2622I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2622	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAAGATACCAGCATGCCAATC	0.453																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7864-7866)AGC>ATC		mucin 17 precursor							238.0	243.0	241.0					7																	100682562		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682562G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7865G>T	7.37:g.100682562G>T	ENSP00000302716:p.Ser2622Ile					MUC17_uc010lho.1_RNA	p.S2622I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7918	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2622			Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7865G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.373	-0.127905	0.06753	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.673	-0.372	0.12520	.	.	.	.	.	T	0.02193	0.0068	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.10450	0.005	T	0.46884	-0.9159	9	0.32370	T	0.25	.	6.5713	0.22541	0.0:0.4101:0.5899:0.0	.	2622	Q685J3	MUC17_HUMAN	I	2622	ENSP00000302716:S2622I	ENSP00000302716:S2622I	S	+	2	0	MUC17	100469282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.351000	0.01092	-0.167000	0.10871	-1.525000	0.00928	AGC		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		75	310	1	0	1.79e-35	8.03e-35	75	310				
C7orf60	154743	broad.mit.edu	37	7	112462082	112462082	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr7:112462082T>C	ENST00000297145.4	-	5	1100	c.935A>G	c.(934-936)cAt>cGt	p.H312R	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	312							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGATGCATATGTGAAAATTT	0.388																																						uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(934-936)CAT>CGT		hypothetical protein LOC154743							79.0	71.0	74.0					7																	112462082		1824	4087	5911	SO:0001583	missense	154743							g.chr7:112462082T>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.935A>G	7.37:g.112462082T>C	ENSP00000297145:p.His312Arg					C7orf60_uc011kms.1_Missense_Mutation_p.H338R	p.H312R	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1062	-			312					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.935A>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332431	0.60853	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	5.92	0.95590	.	0.089673	0.85682	D	0.000000	T	0.80523	0.4639	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.81914	0.994;0.995	T	0.83208	-0.0075	9	0.87932	D	0	-4.5975	16.3678	0.83341	0.0:0.0:0.0:1.0	.	259;312	B4DST1;Q1RMZ1	.;CG060_HUMAN	R	312;294;259	.	ENSP00000297145:H312R	H	-	2	0	C7orf60	112249318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.254000	0.74563	0.528000	0.53228	CAT		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		10	32	0	0	0	0	10	32				
RP1	6101	broad.mit.edu	37	8	55539875	55539875	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:55539875T>C	ENST00000220676.1	+	4	3581	c.3433T>C	c.(3433-3435)Ttc>Ctc	p.F1145L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1145					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGAATAGCTTCTGTCAAGT	0.408																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3433-3435)TTC>CTC		retinitis pigmentosa RP1 protein							92.0	86.0	88.0					8																	55539875		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539875T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3433T>C	8.37:g.55539875T>C	ENSP00000220676:p.Phe1145Leu					RP1_uc011ldy.1_Intron	p.F1145L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3581	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1145						Missense_Mutation	SNP	ENST00000220676.1	37	c.3433T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996130	0.35226	.	.	ENSG00000104237	ENST00000220676	T	0.21734	1.99	5.7	1.36	0.22044	.	0.571850	0.16828	N	0.197881	T	0.17831	0.0428	M	0.64997	1.995	0.09310	N	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.29671	-1.0004	10	0.87932	D	0	.	2.1818	0.03877	0.1721:0.0824:0.2232:0.5224	.	1145	P56715	RP1_HUMAN	L	1145	ENSP00000220676:F1145L	ENSP00000220676:F1145L	F	+	1	0	RP1	55702428	0.253000	0.23982	0.610000	0.28997	0.850000	0.48378	0.529000	0.23019	0.396000	0.25283	0.460000	0.39030	TTC		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	84	0	0	0	0	4	84				
KCNB2	9312	broad.mit.edu	37	8	73849904	73849904	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:73849904G>C	ENST00000523207.1	+	3	2902	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	772					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCTGGGCACTGAGGTTTCAGC	0.552																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2314-2316)GAG>CAG		potassium voltage-gated channel, Shab-related							56.0	62.0	60.0					8																	73849904		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849904G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2314G>C	8.37:g.73849904G>C	ENSP00000430846:p.Glu772Gln						p.E772Q	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2902	+	Breast(64;0.137)		772			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2314G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463183	0.26248	.	.	ENSG00000182674	ENST00000523207	D	0.97870	-4.58	5.04	4.14	0.48551	.	1.344060	0.05300	N	0.522883	D	0.95522	0.8545	N	0.14661	0.345	0.21915	N	0.999475	B	0.23540	0.087	B	0.33568	0.166	D	0.88674	0.3197	10	0.66056	D	0.02	.	13.826	0.63351	0.0:0.153:0.847:0.0	.	772	Q92953	KCNB2_HUMAN	Q	772	ENSP00000430846:E772Q	ENSP00000430846:E772Q	E	+	1	0	KCNB2	74012458	1.000000	0.71417	0.023000	0.16930	0.924000	0.55760	5.342000	0.65970	1.296000	0.44742	0.591000	0.81541	GAG		0.552	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		23	113	0	0	0	0	23	113				
TRHR	7201	broad.mit.edu	37	8	110131311	110131311	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:110131311T>G	ENST00000518632.1	+	3	1175	c.824T>G	c.(823-825)tTt>tGt	p.F275C	TRHR_ENST00000311762.2_Missense_Mutation_p.F275C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	275					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTAATTCTGTTTGCCCTTTTA	0.408																																						uc003ymz.3		NA																	0				skin(2)|lung(1)	3						c.(823-825)TTT>TGT		thyrotropin-releasing hormone receptor							249.0	245.0	247.0					8																	110131311		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131311T>G		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.824T>G	8.37:g.110131311T>G	ENSP00000430711:p.Phe275Cys						p.F275C	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	840	+			275			Helical; Name=6; (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.824T>G	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274453	0.80580	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.57436	0.4;0.4	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.130470	0.64402	D	0.000001	T	0.80380	0.4612	H	0.95917	3.74	0.80722	D	1	D	0.63880	0.993	D	0.63957	0.92	D	0.86497	0.1801	10	0.72032	D	0.01	-42.0412	15.8162	0.78604	0.0:0.0:0.0:1.0	.	275	P34981	TRFR_HUMAN	C	275	ENSP00000430711:F275C;ENSP00000309818:F275C	ENSP00000309818:F275C	F	+	2	0	TRHR	110200487	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.965000	0.87945	2.330000	0.79161	0.477000	0.44152	TTT		0.408	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			38	375	0	0	0	0	38	375				
CSMD3	114788	broad.mit.edu	37	8	113842012	113842012	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:113842012G>T	ENST00000297405.5	-	12	2006	c.1762C>A	c.(1762-1764)Cag>Aag	p.Q588K	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q484K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q588K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q548K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	588	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTTATCTGGATAACCTAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1762-1764)CAG>AAG		CUB and Sushi multiple domains 3 isoform 1							77.0	70.0	72.0					8																	113842012		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113842012G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1762C>A	8.37:g.113842012G>T	ENSP00000297405:p.Gln588Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.Q548K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q484K	p.Q588K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			12	1921	-			588			Extracellular (Potential).|CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1762C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046616	0.55110	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.04	5.04	0.67666	CUB (5);	0.088159	0.46758	D	0.000273	T	0.20455	0.0492	N	0.04387	-0.21	0.33294	D	0.563924	D;D;B	0.60160	0.987;0.983;0.066	D;D;B	0.79784	0.92;0.993;0.013	T	0.36890	-0.9729	10	0.21540	T	0.41	.	17.1472	0.86769	0.0:0.0:1.0:0.0	.	484;588;548	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	548;588;484;588	ENSP00000345799:Q548K;ENSP00000297405:Q588K;ENSP00000412263:Q484K;ENSP00000343124:Q588K	ENSP00000297405:Q588K	Q	-	1	0	CSMD3	113911188	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.229000	0.65316	2.359000	0.80004	0.650000	0.86243	CAG		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	29	1	0	0.000602214	0.00233239	5	29				
ZNF572	137209	broad.mit.edu	37	8	125989980	125989980	+	Silent	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr8:125989980C>T	ENST00000319286.5	+	3	1624	c.1470C>T	c.(1468-1470)caC>caT	p.H490H		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAATTCACGTAGAAAAGC	0.473										HNSCC(60;0.17)																												uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1468-1470)CAC>CAT		zinc finger protein 572							113.0	120.0	117.0					8																	125989980		2203	4300	6503	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989980C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1470C>T	8.37:g.125989980C>T		HNSCC(60;0.17)					p.H490H	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1625	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		490			C2H2-type 12.		A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.1470C>T	CCDS6354.1																																																																																				0.473	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		18	183	0	0	0	0	18	183				
CBWD6	644019	broad.mit.edu	37	9	69238242	69238242	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr9:69238242C>T	ENST00000377457.5	-	8	755	c.650G>A	c.(649-651)aGa>aAa	p.R217K	CBWD6_ENST00000382399.4_Missense_Mutation_p.R197K|CBWD6_ENST00000377449.1_Missense_Mutation_p.R181K	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	217							ATP binding (GO:0005524)			lung(4)	4						AAGTGTCGTTCTTAATTTCTT	0.333																																						uc004afj.3		NA																	0					0						c.(649-651)AGA>AAA		COBW domain containing 6							118.0	161.0	145.0					9																	69238242		1350	2319	3669	SO:0001583	missense	644019						ATP binding	g.chr9:69238242C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.650G>A	9.37:g.69238242C>T	ENSP00000366677:p.Arg217Lys					CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	p.R217K	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			8	756	-			217						Missense_Mutation	SNP	ENST00000377457.5	37	c.650G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	7.035	0.561308	0.13498	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.43688	0.94;0.94;0.94	2.35	1.41	0.22369	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.140827	0.64402	N	0.000005	T	0.22742	0.0549	N	0.17800	0.525	0.24554	N	0.994005	B	0.09022	0.002	B	0.20384	0.029	T	0.11966	-1.0566	10	0.22706	T	0.39	-15.3628	6.6748	0.23087	0.0:0.8335:0.0:0.1665	.	217	Q4V339	CBWD6_HUMAN	K	217;181;197;217	ENSP00000366677:R217K;ENSP00000366668:R181K;ENSP00000371836:R197K	ENSP00000366664:R217K	R	-	2	0	CBWD6	68528062	0.992000	0.36948	0.531000	0.27976	0.306000	0.27790	1.395000	0.34520	1.313000	0.45069	0.184000	0.17185	AGA		0.333	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		36	53	0	0	0	0	36	53				
FRMD3	257019	broad.mit.edu	37	9	85863354	85863354	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr9:85863354C>G	ENST00000304195.3	-	14	1479	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.E231Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.E82Q|FRMD3_ENST00000376438.1_Missense_Mutation_p.E425Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	425						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGGGGATCTTCATACTCCCGG	0.468																																						uc004ams.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1273-1275)GAA>CAA		FERM domain containing 3							76.0	76.0	76.0					9																	85863354		1848	4106	5954	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863354C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1273G>C	9.37:g.85863354C>G	ENSP00000303508:p.Glu425Gln					FRMD3_uc004amr.1_Missense_Mutation_p.E411Q|FRMD3_uc004amq.1_Missense_Mutation_p.E82Q	p.E425Q	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			14	1475	-			425					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1273G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	3.669	-0.067979	0.07228	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86164	-1.66;-2.08;0.9;-1.67	5.38	4.48	0.54585	.	0.946777	0.08988	N	0.864815	T	0.77909	0.4201	N	0.22421	0.69	0.09310	N	0.999997	B;B;P	0.45827	0.009;0.034;0.867	B;B;B	0.41510	0.024;0.066;0.359	T	0.63559	-0.6610	10	0.13108	T	0.6	.	8.095	0.30822	0.1304:0.7279:0.0:0.1416	.	425;425;82	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	425;231;82;425	ENSP00000365621:E425Q;ENSP00000365617:E231Q;ENSP00000328615:E82Q;ENSP00000303508:E425Q	ENSP00000303508:E425Q	E	-	1	0	FRMD3	85053174	0.001000	0.12720	0.997000	0.53966	0.980000	0.70556	0.595000	0.24029	1.416000	0.47057	0.650000	0.86243	GAA		0.468	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		12	37	0	0	0	0	12	37				
IL1RAPL1	11141	broad.mit.edu	37	X	29973844	29973844	+	Silent	SNP	G	G	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chrX:29973844G>A	ENST00000378993.1	+	11	2671	c.1998G>A	c.(1996-1998)tcG>tcA	p.S666S	IL1RAPL1_ENST00000302196.4_Silent_p.S666S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	666					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGACAAAATCGAGCAGGGAGC	0.527																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(1996-1998)TCG>TCA		interleukin 1 receptor accessory protein-like 1							50.0	41.0	44.0					X																	29973844		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973844G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1998G>A	X.37:g.29973844G>A							p.S666S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2506	+			666			Cytoplasmic (Potential).		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1998G>A	CCDS14218.1																																																																																				0.527	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		7	7	0	0	0	0	7	7				
LPAR3	23566	broad.mit.edu	37	1	85331609	85331609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr1:85331609delG	ENST00000440886.1	-	1	233	c.195delC	c.(193-195)ttcfs	p.F65fs	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Del_p.F65fs			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	65					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAGGTAGTAGAAGGGGAAAT	0.393																																						uc001dkl.2		NA																	0				lung(3)|ovary(2)	5						c.(193-195)TTCfs		lysophosphatidic acid receptor 3							89.0	94.0	92.0					1																	85331609		2203	4300	6503	SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331609delG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.195delC	1.37:g.85331609delG	ENSP00000395389:p.Phe65fs					LPAR3_uc009wcj.1_Frame_Shift_Del_p.F65fs	p.F65fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	234	-			65			Cytoplasmic (Potential).		A0AVA3	Frame_Shift_Del	DEL	ENST00000440886.1	37	c.195delC	CCDS700.1																																																																																				0.393	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		56	83	NA	NA	NA	NA	56	83	---	---	---	---
AP5M1	55745	broad.mit.edu	37	14	57741158	57741159	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:57741158_57741159insA	ENST00000261558.3	+	2	677_678	c.271_272insA	c.(271-273)gaafs	p.E91fs	AP5M1_ENST00000431972.2_Frame_Shift_Ins_p.E105fs	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	91					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GATAGGAGGTGAAGAACTCTGG	0.406																																						uc001xcv.2		NA																	0				ovary(1)	1						c.(271-273)GAAfs		Mu-2 related death-inducing protein																																				SO:0001589	frameshift_variant	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741158_57741159insA	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.273dupA	14.37:g.57741160_57741160dupA	ENSP00000261558:p.Glu91fs					MUDENG_uc001xcu.3_Frame_Shift_Ins_p.E91fs|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR	p.E91fs	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			2	698_699	+			91					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Frame_Shift_Ins	INS	ENST00000261558.3	37	c.271_272insA	CCDS9729.1																																																																																				0.406	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		21	45	NA	NA	NA	NA	21	45	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105613864	105613864	+	Splice_Site	DEL	T	T	-			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr14:105613864delT	ENST00000331782.3	-	19	2769	c.2366delA	c.(2365-2367)aat>at	p.N789fs	JAG2_ENST00000347004.2_Splice_Site_p.N751fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	789	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTCGTTGGTATCTGGTTTGGG	0.652																																						uc001yqg.2		NA																	0				lung(3)|breast(2)	5						c.(2365-2367)AATfs		jagged 2 isoform a precursor							56.0	57.0	57.0					14																	105613864		2194	4300	6494	SO:0001630	splice_region_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105613864delT	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2366-1A>-	14.37:g.105613864delT						JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_Frame_Shift_Del_p.N193fs|JAG2_uc001yqh.2_Frame_Shift_Del_p.N751fs	p.N789fs	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	19	2770	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	789			Extracellular (Potential).|EGF-like 15; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Frame_Shift_Del	DEL	ENST00000331782.3	37	c.2366delA	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		Frame_Shift_Del	12	28	NA	NA	NA	NA	12	28	---	---	---	---
MZF1	7593	broad.mit.edu	37	19	59073795	59073796	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr19:59073795_59073796insC	ENST00000215057.2	-	6	2408_2409	c.1848_1849insG	c.(1846-1851)cagaggfs	p.R617fs	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Frame_Shift_Ins_p.R617fs	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	617					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTGTGTGTCCTCTGATGACGCG	0.663																																						uc002qto.2		NA																	0				ovary(1)	1						c.(1846-1851)CAGAGGfs		zinc finger protein 42 isoform 2																																				SO:0001589	frameshift_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073795_59073796insC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1849dupG	19.37:g.59073796_59073796dupC	ENSP00000215057:p.Arg617fs					LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Frame_Shift_Ins_p.Q616fs	p.Q616fs	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2409_2410	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	616_617			C2H2-type 9.		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Frame_Shift_Ins	INS	ENST00000215057.2	37	c.1848_1849insG	CCDS12988.1																																																																																				0.663	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		9	20	NA	NA	NA	NA	9	20	---	---	---	---
SCARF2	91179	broad.mit.edu	37	22	20781751	20781752	+	Frame_Shift_Ins	INS	-	-	GGACC			TCGA-D6-6823-01A-11D-1912-08	TCGA-D6-6823-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e1f4d8ef-f24a-417b-bf22-c03cdb6b5275	be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6	g.chr22:20781751_20781752insGGACC	ENST00000266214.5	-	10	1745_1746	c.1641_1642insGGTCC	c.(1639-1644)tcctctfs	p.S548fs	SCARF2_ENST00000405555.3_Frame_Shift_Ins_p.S543fs	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	548					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGCCCGAGAGGACCAGGATG	0.599																																						uc002zsj.1		NA																	0				breast(1)	1						c.(1639-1644)TCCTCTfs		scavenger receptor class F, member 2 isoform 1																																				SO:0001589	frameshift_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20781751_20781752insGGACC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1637_1641dupGGTCC	22.37:g.20781752_20781756dupGGACC	ENSP00000266214:p.Ser548fs					SCARF2_uc002zsk.1_Frame_Shift_Ins_p.S542fs	p.S547fs	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		10	1746_1747	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	542_543			Cytoplasmic (Potential).		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Frame_Shift_Ins	INS	ENST00000266214.5	37	c.1641_1642insGGTCC	CCDS13779.1																																																																																				0.599	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			9	83	NA	NA	NA	NA	9	83	---	---	---	---
