#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBIAD1	29914	broad.mit.edu	37	1	11333871	11333871	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:11333871C>A	ENST00000376810.5	+	1	609	c.283C>A	c.(283-285)Cac>Aac	p.H95N	UBIAD1_ENST00000376804.2_Missense_Mutation_p.H95N	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	95					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.H95N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CCTGGCTGTGCACGGGGCCGG	0.567																																							uc001asg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CAC>AAC		UbiA prenyltransferase domain containing 1							116.0	113.0	114.0					1																	11333871		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11333871C>A		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.283C>A	1.37:g.11333871C>A	ENSP00000366006:p.His95Asn						p.H95N	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	617	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	95			Helical; (Potential).		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.283C>A	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594982	0.86953	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.92647	-3.08;-3.08	5.03	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.83223	2.63	0.80722	D	1	D	0.60575	0.988	D	0.64687	0.928	D	0.95675	0.8727	10	0.72032	D	0.01	-13.9773	13.6258	0.62163	0.1554:0.8446:0.0:0.0	.	95	Q9Y5Z9	UBIA1_HUMAN	N	95	ENSP00000366006:H95N;ENSP00000366000:H95N	ENSP00000366000:H95N	H	+	1	0	UBIAD1	11256458	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.448000	0.66612	2.484000	0.83849	0.453000	0.30009	CAC		0.567	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		34	47	1	0	1.04594e-18	0.00623	1.29696e-18	34	47				
UBR4	23352	broad.mit.edu	37	1	19501491	19501491	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:19501491G>A	ENST00000375254.3	-	21	2837	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	UBR4_ENST00000375267.2_Missense_Mutation_p.S937F|UBR4_ENST00000375226.2_Missense_Mutation_p.S937F|UBR4_ENST00000375217.2_Missense_Mutation_p.S937F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	937					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S937F(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTCTGGGGACAGGACACA	0.403																																							uc001bbi.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(2809-2811)TCC>TTC		retinoblastoma-associated factor 600							101.0	95.0	97.0					1																	19501491		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501491G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2810C>T	1.37:g.19501491G>A	ENSP00000364403:p.Ser937Phe					UBR4_uc001bbm.1_Missense_Mutation_p.S148F	p.S937F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	21	2814	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	937					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2810C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917513	0.92249	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.25085	1.83;1.83;1.82;1.83	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.02464	-1.1155	10	0.24483	T	0.36	.	20.0142	0.97474	0.0:0.0:1.0:0.0	.	937	Q5T4S7	UBR4_HUMAN	F	937;937;937;937;153	ENSP00000364403:S937F;ENSP00000364416:S937F;ENSP00000364365:S937F;ENSP00000364374:S937F	ENSP00000364365:S937F	S	-	2	0	UBR4	19374078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	2.831000	0.97527	0.650000	0.86243	TCC		0.403	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		37	34	0	0	0	0.00623	0	37	34				
RIMS3	9783	broad.mit.edu	37	1	41101649	41101649	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:41101649T>C	ENST00000372684.3	-	4	767	c.298A>G	c.(298-300)Aca>Gca	p.T100A	RIMS3_ENST00000372683.1_Missense_Mutation_p.T100A	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	100					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.T100A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCCTGGCGTGTGACCCGGCTC	0.687																																							uc001cfu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)ACA>GCA		regulating synaptic membrane exocytosis 3							73.0	64.0	67.0					1																	41101649		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41101649T>C	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.298A>G	1.37:g.41101649T>C	ENSP00000361769:p.Thr100Ala					RIMS3_uc001cfv.1_Missense_Mutation_p.T100A	p.T100A	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	767	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	100					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.298A>G	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444799	0.43429	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.36878	1.23;1.23	5.01	1.51	0.23008	.	0.051663	0.85682	D	0.000000	T	0.24967	0.0606	L	0.49640	1.575	0.53005	D	0.999963	B	0.13145	0.007	B	0.15484	0.013	T	0.07520	-1.0768	10	0.15066	T	0.55	-8.3622	5.0669	0.14587	0.0:0.1731:0.1687:0.6582	.	100	Q9UJD0	RIMS3_HUMAN	A	100	ENSP00000361769:T100A;ENSP00000361768:T100A	ENSP00000361768:T100A	T	-	1	0	RIMS3	40874236	1.000000	0.71417	0.704000	0.30370	0.927000	0.56198	4.093000	0.57714	0.110000	0.17919	-0.256000	0.11100	ACA		0.687	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		6	46	0	0	0	0.001984	0	6	46				
NFIA	4774	broad.mit.edu	37	1	61869785	61869785	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:61869785A>T	ENST00000403491.3	+	8	1569	c.1085A>T	c.(1084-1086)cAt>cTt	p.H362L	NFIA_ENST00000371185.2_Missense_Mutation_p.H340L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.H319L|NFIA_ENST00000371187.3_Missense_Mutation_p.H362L|NFIA_ENST00000371184.2_Missense_Mutation_p.H233L|NFIA_ENST00000371189.4_Missense_Mutation_p.H407L|NFIA_ENST00000407417.3_Missense_Mutation_p.H354L|NFIA_ENST00000357977.5_Missense_Mutation_p.H10L|NFIA_ENST00000371191.1_Missense_Mutation_p.H385L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	362					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H362L(1)|p.H407L(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCAAGTCCGCATGCAACACCA	0.488																																							uc001czw.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1084-1086)CAT>CTT		nuclear factor I/A isoform 1							178.0	162.0	167.0					1																	61869785		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61869785A>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1085A>T	1.37:g.61869785A>T	ENSP00000384523:p.His362Leu					NFIA_uc001czy.2_Missense_Mutation_p.H354L|NFIA_uc010oos.1_Missense_Mutation_p.H407L|NFIA_uc001czv.2_Missense_Mutation_p.H362L|NFIA_uc001czx.2_Missense_Mutation_p.H10L|NFIA_uc009wae.2_5'Flank	p.H362L	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			8	1569	+			362					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1085A>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206131	0.39003	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.31476	0.935	0.54753	D	0.999982	P;P;P;P;P	0.51791	0.936;0.948;0.948;0.948;0.936	P;P;P;P;P	0.48704	0.472;0.587;0.587;0.587;0.451	T	0.35798	-0.9774	10	0.37606	T	0.19	-19.0515	16.1197	0.81342	1.0:0.0:0.0:0.0	.	407;385;340;362;362	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	L	385;354;407;362;362;340;233;319	ENSP00000360233:H385L;ENSP00000384680:H354L;ENSP00000360231:H407L;ENSP00000384523:H362L;ENSP00000360227:H340L;ENSP00000360226:H233L	ENSP00000360226:H233L	H	+	2	0	NFIA	61642373	1.000000	0.71417	0.787000	0.31911	0.954000	0.61252	7.092000	0.76930	2.257000	0.74773	0.455000	0.32223	CAT		0.488	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		25	120	0	0	0	0.005443	0	25	120				
DNAJC6	9829	broad.mit.edu	37	1	65851413	65851414	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:65851413_65851414TG>AT	ENST00000395325.3	+	7	805_806	c.648_649TG>AT	c.(646-651)tgTGac>tgATac	p.216_217CD>*Y	DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.203_204CD>*Y|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.273_274CD>*Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	216	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.C216_D217>*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTATATGTGTGACCTACTGGC	0.46																																							uc001dcd.1		NA																	1	Complex - deletion inframe(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(646-651)TGTGAC>TGATAC		DnaJ (Hsp40) homolog, subfamily C, member 6																																				SO:0001587	stop_gained	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65851413_65851414TG>AT	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	Exception_encountered	1.37:g.65851413_65851414delinsAT	ENSP00000378735:p.C216_D217delins*Y					DNAJC6_uc001dcc.1_Nonsense_Mutation_p.247_248CD>*Y|DNAJC6_uc010opc.1_Nonsense_Mutation_p.203_204CD>*Y|DNAJC6_uc001dce.1_Nonsense_Mutation_p.273_274CD>*Y	p.216_217CD>*Y	NM_014787	NP_055602	O75061	AUXI_HUMAN			7	812_813	+			216_217			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Nonsense_Mutation	DNP	ENST00000395325.3	37	c.648_649TG>AT	CCDS30739.1																																																																																				0.460	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			8	48	0	0	0	0.004672	0	8	48				
ERICH3	127254	broad.mit.edu	37	1	75037335	75037335	+	Silent	SNP	G	G	A	rs535685168		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:75037335G>A	ENST00000326665.5	-	14	4277	c.4059C>T	c.(4057-4059)gcC>gcT	p.A1353A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1353	Glu-rich.							p.A1353A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCTCTGCGGCTGTTTCTG	0.512													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18000	0.0		0.0	False		,,,				2504	0.0						uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4057-4059)GCC>GCT		hypothetical protein LOC127254							179.0	180.0	180.0					1																	75037335		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037335G>A																												ENST00000326665.5:c.4059C>T	1.37:g.75037335G>A							p.A1353A	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4278	-			1353			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4059C>T	CCDS30755.1																																																																																				0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			52	63	0	0	0	0.01441	0	52	63				
MCOLN3	55283	broad.mit.edu	37	1	85487754	85487754	+	Splice_Site	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:85487754T>G	ENST00000370589.2	-	11	1371	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Splice_Site_p.K384T|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	440					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K440T(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATCAGTACCTTGTCATGGTA	0.423																																							uc001dkp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1318-1320)AAG>ACG		mucolipin 3							108.0	107.0	107.0					1																	85487754		2203	4300	6503	SO:0001630	splice_region_variant	55283					integral to membrane	ion channel activity	g.chr1:85487754T>G	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1320+1A>C	1.37:g.85487754T>G						MCOLN3_uc001dko.2_Missense_Mutation_p.K59T|MCOLN3_uc001dkq.2_Missense_Mutation_p.K384T	p.K440T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	11	1412	-			440					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1319A>C	CCDS701.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458187	0.84317	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.69806	-0.43;-0.43	5.7	5.7	0.88788	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.948;0.978	D	0.84723	0.0741	10	0.56958	D	0.05	-6.6795	15.9704	0.80013	0.0:0.0:0.0:1.0	.	384;440	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	T	440;440;384;384	ENSP00000359621:K440T;ENSP00000342698:K384T	ENSP00000304843:K440T	K	-	2	0	MCOLN3	85260342	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	7.650000	0.83521	2.165000	0.68154	0.460000	0.39030	AAG		0.423	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	Missense_Mutation	13	74	0	0	0	0.004007	0	13	74				
SYPL2	284612	broad.mit.edu	37	1	110019462	110019462	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:110019462C>A	ENST00000369872.3	+	4	535	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	SYPL2_ENST00000401021.3_Missense_Mutation_p.L107I|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	107	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.L107I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GACCATGCACCTCATGGGGGA	0.567																																							uc001dxp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)CTC>ATC		mitsugumin 29							88.0	93.0	91.0					1																	110019462		2036	4183	6219	SO:0001583	missense	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110019462C>A	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.319C>A	1.37:g.110019462C>A	ENSP00000358888:p.Leu107Ile					SYPL2_uc001dxo.2_Missense_Mutation_p.L107I|SYPL2_uc010ovk.1_Missense_Mutation_p.L107I|SYPL2_uc001dxq.2_Missense_Mutation_p.L15I	p.L107I	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	4	685	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	107			Vesicular (Potential).|MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	c.319C>A	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458360	0.84317	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T;T	0.25912	1.77;1.77	5.46	5.46	0.80206	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	M	0.74467	2.265	0.40769	D	0.983075	D;P;P;P	0.76494	0.999;0.907;0.793;0.753	D;P;P;B	0.87578	0.998;0.592;0.481;0.349	T	0.38693	-0.9649	10	0.72032	D	0.01	.	11.5538	0.50735	0.0:0.9165:0.0:0.0835	.	107;15;107;107	B4DYR7;Q14DL7;Q5VXT5;Q5VXT5-2	.;.;SYPL2_HUMAN;.	I	107	ENSP00000383805:L107I;ENSP00000358888:L107I	ENSP00000358888:L107I	L	+	1	0	SYPL2	109820985	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.969000	0.56816	2.559000	0.86315	0.455000	0.32223	CTC		0.567	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		6	33	1	0	0.00116845	0.001168	0.00124903	6	33				
CIART	148523	broad.mit.edu	37	1	150259060	150259060	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:150259060A>T	ENST00000290363.5	+	5	1301	c.852A>T	c.(850-852)ttA>ttT	p.L284F	C1orf51_ENST00000369094.1_Missense_Mutation_p.L196F|C1orf51_ENST00000369095.1_Missense_Mutation_p.L284F	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		284					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.L284F(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGTCCTTTAGGCACTGGAA	0.552																																							uc001euh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(850-852)TTA>TTT		hypothetical protein LOC148523							221.0	185.0	197.0					1																	150259060		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259060A>T																												ENST00000290363.5:c.852A>T	1.37:g.150259060A>T	ENSP00000290363:p.Leu284Phe					C1orf51_uc001eui.2_Missense_Mutation_p.L196F|C1orf51_uc001euj.2_Missense_Mutation_p.L284F	p.L284F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	988	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		284					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.852A>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842699	0.51057	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	1.99	0.26369	.	0.809409	0.10750	N	0.638487	T	0.24586	0.0596	L	0.54323	1.7	0.25373	N	0.988684	D	0.53462	0.96	P	0.53649	0.731	T	0.07539	-1.0767	9	0.49607	T	0.09	-1.9282	4.3683	0.11235	0.4827:0.3375:0.1798:0.0	.	284	Q8N365	CA051_HUMAN	F	196;284;196;196;284	.	ENSP00000290363:L284F	L	+	3	2	C1orf51	148525684	0.992000	0.36948	0.989000	0.46669	0.924000	0.55760	0.974000	0.29436	0.534000	0.28695	0.533000	0.62120	TTA		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			83	112	0	0	0	0.01441	0	83	112				
LCE1B	353132	broad.mit.edu	37	1	152785211	152785211	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:152785211A>G	ENST00000360090.3	+	1	765	c.289A>G	c.(289-291)Agc>Ggc	p.S97G		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	97	Gly-rich.				keratinization (GO:0031424)			p.S97G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGCTGCAGCCAGCCCTC	0.647																																							uc001faq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)AGC>GGC		late cornified envelope 1B							28.0	36.0	33.0					1																	152785211		2199	4298	6497	SO:0001583	missense	353132				keratinization			g.chr1:152785211A>G	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.289A>G	1.37:g.152785211A>G	ENSP00000353203:p.Ser97Gly						p.S97G	NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	765	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		97			Gly-rich.		A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	c.289A>G	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	A	7.436	0.639710	0.14386	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.03772	3.81	4.32	1.95	0.26073	.	0.160789	0.29830	N	0.011086	T	0.00875	0.0029	N	0.11064	0.09	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.47586	-0.9106	10	0.87932	D	0	.	5.9521	0.19253	0.7842:0.0:0.2158:0.0	.	97	Q5T7P3	LCE1B_HUMAN	G	97;89	ENSP00000353203:S97G	ENSP00000353203:S97G	S	+	1	0	LCE1B	151051835	0.989000	0.36119	0.395000	0.26283	0.699000	0.40488	1.207000	0.32333	0.289000	0.22422	0.528000	0.53228	AGC		0.647	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		50	46	0	0	0	0.01441	0	50	46				
TMEM79	84283	broad.mit.edu	37	1	156255080	156255080	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156255080C>G	ENST00000405535.2	+	2	234	c.63C>G	c.(61-63)agC>agG	p.S21R	TMEM79_ENST00000295694.5_Missense_Mutation_p.S21R|SMG5_ENST00000368267.5_5'Flank|TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	21					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.S21R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CAGAGAAGAGCTCACCCCAGG	0.602																																							uc010phi.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(61-63)AGC>AGG		transmembrane protein 79							42.0	47.0	45.0					1																	156255080		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255080C>G	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.63C>G	1.37:g.156255080C>G	ENSP00000384748:p.Ser21Arg					SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Intron|TMEM79_uc009wrw.2_Missense_Mutation_p.S21R	p.S21R	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			2	259	+	Hepatocellular(266;0.158)		21					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.63C>G	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471084	0.26423	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.53857	0.6;0.6	5.96	1.52	0.23074	.	0.488370	0.25060	N	0.033455	T	0.16769	0.0403	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.25847	-1.0120	9	.	.	.	-11.616	8.2926	0.31967	0.0:0.6349:0.0:0.3651	.	21	Q9BSE2	TMM79_HUMAN	R	21	ENSP00000295694:S21R;ENSP00000384748:S21R	.	S	+	3	2	TMEM79	154521704	0.033000	0.19621	0.106000	0.21319	0.592000	0.36648	0.363000	0.20301	0.417000	0.25871	0.655000	0.94253	AGC		0.602	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		37	48	0	0	0	0.00623	0	37	48				
BCAN	63827	broad.mit.edu	37	1	156628465	156628466	+	Silent	DNP	CC	CC	AA	rs267598077		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156628465_156628466CC>AA	ENST00000329117.5	+	13	2904_2905	c.2568_2569CC>AA	c.(2566-2571)atCCga>atAAga	p.856_857IR>IR	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	856	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.(=)(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCGCTGATCCGATGCCAAGA	0.634																																							uc001fpp.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2566-2571)ATCCGA>ATAAGA		brevican isoform 1																																				SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628465_156628466CC>AA	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	Exception_encountered	1.37:g.156628465_156628466delinsAA							p.856_857IR>IR	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			13	2904_2905	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		856_857			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	DNP	ENST00000329117.5	37	c.2568_2569CC>AA	CCDS1149.1																																																																																				0.634	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		48	95	0	0	0	0.004672	0	48	95				
ARHGEF11	9826	broad.mit.edu	37	1	156946817	156946817	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156946817C>T	ENST00000361409.2	-	7	1282	c.540G>A	c.(538-540)caG>caA	p.Q180Q	ARHGEF11_ENST00000368194.3_Silent_p.Q180Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	180					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q180Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGAGGATCTGGGTGGCAT	0.428																																							uc001fqo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(538-540)CAG>CAA		Rho guanine nucleotide exchange factor (GEF) 11							163.0	143.0	149.0					1																	156946817		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156946817C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.540G>A	1.37:g.156946817C>T						ARHGEF11_uc001fqn.2_Silent_p.Q180Q	p.Q180Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN			7	1580	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		180					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.540G>A	CCDS1162.1																																																																																				0.428	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		121	127	0	0	0	0.01441	0	121	127				
PAPPA2	60676	broad.mit.edu	37	1	176738760	176738760	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:176738760A>G	ENST00000367662.3	+	16	5505	c.4341A>G	c.(4339-4341)acA>acG	p.T1447T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1447	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T1447T(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGCTCACATGTTCTTCTG	0.478																																							uc001gkz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4339-4341)ACA>ACG		pappalysin 2 isoform 1							120.0	111.0	114.0					1																	176738760		1892	4114	6006	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738760A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4341A>G	1.37:g.176738760A>G						PAPPA2_uc009www.2_RNA	p.T1447T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5505	+			1447			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4341A>G	CCDS41438.1																																																																																				0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			31	48	0	0	0	0.003271	0	31	48				
RYR2	6262	broad.mit.edu	37	1	237787114	237787114	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:237787114C>A	ENST00000366574.2	+	39	6283	c.5966C>A	c.(5965-5967)cCa>cAa	p.P1989Q	RYR2_ENST00000360064.6_Missense_Mutation_p.P1987Q|RYR2_ENST00000542537.1_Missense_Mutation_p.P1973Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1989	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.P1987Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCCATGTCCAGAAGAAATT	0.318																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5965-5967)CCA>CAA		cardiac muscle ryanodine receptor							110.0	108.0	109.0					1																	237787114		1830	4084	5914	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787114C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5966C>A	1.37:g.237787114C>A	ENSP00000355533:p.Pro1989Gln						p.P1989Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6086	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1989			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5966C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887516	0.91814	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72167	-0.63;-0.63;-0.63	5.34	5.34	0.76211	.	0.185973	0.34531	N	0.003886	D	0.85318	0.5669	M	0.88310	2.945	0.80722	D	1	D	0.71674	0.998	P	0.59221	0.854	D	0.87612	0.2504	10	0.62326	D	0.03	.	19.456	0.94889	0.0:1.0:0.0:0.0	.	1989	Q92736	RYR2_HUMAN	Q	1989;1987;1973	ENSP00000355533:P1989Q;ENSP00000353174:P1987Q;ENSP00000443798:P1973Q	ENSP00000353174:P1987Q	P	+	2	0	RYR2	235853737	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.672000	0.83956	2.660000	0.90430	0.650000	0.86243	CCA		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	26	1	0	6.32553e-13	0.004656	7.47015e-13	25	26				
RYR2	6262	broad.mit.edu	37	1	237791169	237791169	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:237791169G>A	ENST00000366574.2	+	41	6546	c.6229G>A	c.(6229-6231)Gac>Aac	p.D2077N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2075N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2061N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2077	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D2075N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCATTGAAGACCCCGAGCT	0.493																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6229-6231)GAC>AAC		cardiac muscle ryanodine receptor							51.0	50.0	50.0					1																	237791169		1965	4150	6115	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791169G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6229G>A	1.37:g.237791169G>A	ENSP00000355533:p.Asp2077Asn						p.D2077N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6349	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2077			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6229G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742031	0.69418	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.1;-4.12	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000004	D	0.89357	0.6692	N	0.05050	-0.12	0.80722	D	1	B	0.28605	0.217	B	0.30251	0.113	D	0.86696	0.1926	10	0.17832	T	0.49	.	12.4131	0.55478	0.0776:0.0:0.9224:0.0	.	2077	Q92736	RYR2_HUMAN	N	2077;2075;2061	ENSP00000355533:D2077N;ENSP00000353174:D2075N;ENSP00000443798:D2061N	ENSP00000353174:D2075N	D	+	1	0	RYR2	235857792	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.736000	0.74811	2.571000	0.86741	0.591000	0.81541	GAC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	8	0	0	0	0.008291	0	10	8				
ZP4	57829	broad.mit.edu	37	1	238053780	238053780	+	Silent	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:238053780A>T	ENST00000366570.4	-	1	314	c.156T>A	c.(154-156)ccT>ccA	p.P52P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	52					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.P52P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTAGTACAGGAGGAGACGTTG	0.498																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(154-156)CCT>CCA		zona pellucida glycoprotein 4 preproprotein							70.0	68.0	68.0					1																	238053780		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053780A>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.156T>A	1.37:g.238053780A>T						LOC100130331_uc010pyc.1_Intron	p.P52P	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	156	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	52			Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.156T>A	CCDS1615.1																																																																																				0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			8	25	0	0	0	0.004482	0	8	25				
OR2T34	127068	broad.mit.edu	37	1	248737471	248737471	+	Silent	SNP	G	G	A	rs373688678		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:248737471G>A	ENST00000328782.2	-	1	609	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D196E(1)|p.D196D(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGGAGACGTCAGAGCAGG	0.517																																							uc001iep.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	large_intestine(1)|ovary(1)	2						c.(586-588)GAC>GAT		olfactory receptor, family 2, subfamily T,		G		1,4287		0,1,2143	148.0	167.0	161.0		588	-1.0	0.0	1		161	0,8600		0,0,4300	no	coding-synonymous	OR2T34	NM_001001821.1		0,1,6443	AA,AG,GG		0.0,0.0233,0.0078		196/319	248737471	1,12887	2144	4300	6444	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737471G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.588C>T	1.37:g.248737471G>A							p.D196D	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	588	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		196			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.588C>T	CCDS31120.1																																																																																				0.517	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		45	83	0	0	0	0.013114	0	45	83				
CUL2	8453	broad.mit.edu	37	10	35320243	35320243	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:35320243C>G	ENST00000374748.1	-	15	1684	c.1371G>C	c.(1369-1371)atG>atC	p.M457I	CUL2_ENST00000374746.1_Missense_Mutation_p.M457I|CUL2_ENST00000374742.1_Missense_Mutation_p.M457I|CUL2_ENST00000374749.3_Missense_Mutation_p.M457I|CUL2_ENST00000374751.3_Missense_Mutation_p.M457I|CUL2_ENST00000602371.1_Missense_Mutation_p.M400I|CUL2_ENST00000537177.1_Missense_Mutation_p.M476I			Q13617	CUL2_HUMAN	cullin 2	457					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.M457I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGTTGATCATGGCTTCTT	0.323																																							uc001ixv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1369-1371)ATG>ATC		cullin 2							76.0	76.0	76.0					10																	35320243		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35320243C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1371G>C	10.37:g.35320243C>G	ENSP00000363880:p.Met457Ile					CUL2_uc009xma.2_Missense_Mutation_p.M326I|CUL2_uc010qer.1_Missense_Mutation_p.M476I|CUL2_uc001ixw.2_Missense_Mutation_p.M457I|CUL2_uc010qes.1_Missense_Mutation_p.M394I	p.M457I	NM_003591	NP_003582	Q13617	CUL2_HUMAN			14	1581	-			457					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1371G>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890495	0.91889	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.64630	1.985	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.79108	0.992;0.985;0.991	D	0.85998	0.1493	10	0.87932	D	0	-20.7256	19.9654	0.97263	0.0:1.0:0.0:0.0	.	457;476;457	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	I	457;457;457;457;400;457;476	ENSP00000363883:M457I;ENSP00000363880:M457I;ENSP00000363878:M457I;ENSP00000363881:M457I;ENSP00000363874:M457I;ENSP00000444856:M476I	ENSP00000363874:M457I	M	-	3	0	CUL2	35360249	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.710000	0.92621	0.591000	0.81541	ATG		0.323	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		15	18	0	0	0	0.00245	0	15	18				
STOX1	219736	broad.mit.edu	37	10	70645813	70645813	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:70645813G>A	ENST00000298596.6	+	3	2344	c.2261G>A	c.(2260-2262)gGc>gAc	p.G754D	STOX1_ENST00000399169.4_Missense_Mutation_p.G754D|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.G644D|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	754						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G754D(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ATGCTGCCTGGCCACAGTCAG	0.428																																							uc001jos.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(2260-2262)GGC>GAC		storkhead box 1 isoform a							95.0	88.0	90.0					10																	70645813		1931	4144	6075	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645813G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2261G>A	10.37:g.70645813G>A	ENSP00000298596:p.Gly754Asp					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.G644D	p.G754D	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	2348	+			754					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2261G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426701	0.43020	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.68331	-0.32;-0.32;-0.32	5.87	4.97	0.65823	.	0.386158	0.30185	N	0.010211	T	0.57154	0.2034	L	0.41824	1.3	0.29106	N	0.881179	B	0.20887	0.049	B	0.19666	0.026	T	0.56032	-0.8046	10	0.46703	T	0.11	.	11.4086	0.49913	0.1379:0.0:0.8621:0.0	.	754	Q6ZVD7	STOX1_HUMAN	D	754;754;644	ENSP00000382121:G754D;ENSP00000298596:G754D;ENSP00000394509:G644D	ENSP00000298596:G754D	G	+	2	0	STOX1	70315819	0.043000	0.20138	0.976000	0.42696	0.978000	0.69477	1.339000	0.33885	1.634000	0.50500	0.655000	0.94253	GGC		0.428	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		39	31	0	0	0	0.00623	0	39	31				
HMX3	340784	broad.mit.edu	37	10	124896850	124896850	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:124896850G>A	ENST00000357878.5	+	2	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	226					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R226H(1)		lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCGGCGTGCCGCAAGAAGAAG	0.672																																							uc010quc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CGC>CAC		H6 family homeobox 3							14.0	18.0	17.0					10																	124896850		2194	4300	6494	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896850G>A		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.677G>A	10.37:g.124896850G>A	ENSP00000350549:p.Arg226His						p.R226H	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	677	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	226					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.677G>A	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475461	0.84640	.	.	ENSG00000188620	ENST00000357878	D	0.95821	-3.82	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.96828	0.9609	10	0.87932	D	0	.	17.5301	0.87811	0.0:0.0:1.0:0.0	.	226	A6NHT5	HMX3_HUMAN	H	226	ENSP00000350549:R226H	ENSP00000350549:R226H	R	+	2	0	HMX3	124886840	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.503000	0.81632	2.478000	0.83669	0.555000	0.69702	CGC		0.672	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		4	5	0	0	0	0.009096	0	4	5				
DENND5A	23258	broad.mit.edu	37	11	9215164	9215164	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:9215164C>G	ENST00000328194.3	-	5	1334	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H	DENND5A_ENST00000530044.1_Missense_Mutation_p.Q338H	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	338	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q338H(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGACATGCTGCCACTGGA	0.473																																							uc001mhl.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(1012-1014)CAG>CAC		RAB6 interacting protein 1							142.0	129.0	133.0					11																	9215164		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9215164C>G	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1014G>C	11.37:g.9215164C>G	ENSP00000328524:p.Gln338His					DENND5A_uc010rbw.1_Missense_Mutation_p.Q338H|DENND5A_uc010rbx.1_RNA	p.Q338H	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			5	1269	-			338			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.1014G>C	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452388	0.84209	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.14893	2.47;2.47	5.61	4.7	0.59300	DENN (3);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.52946	-0.8507	10	0.66056	D	0.02	.	15.0544	0.71901	0.0:0.9315:0.0:0.0685	.	338;338	E9PS91;Q6IQ26	.;DEN5A_HUMAN	H	338	ENSP00000328524:Q338H;ENSP00000435866:Q338H	ENSP00000328524:Q338H	Q	-	3	2	DENND5A	9171740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.324000	0.52022	1.514000	0.48869	-0.137000	0.14449	CAG		0.473	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		21	26	0	0	0	0.00333	0	21	26				
OR9Q1	219956	broad.mit.edu	37	11	57947393	57947393	+	Silent	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:57947393G>T	ENST00000335397.3	+	3	793	c.477G>T	c.(475-477)cgG>cgT	p.R159R		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	159			R -> L (in dbSNP:rs12420738).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CCTTGGTGCGGACAGTCTCAG	0.537																																							uc001nmj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)CGG>CGT		olfactory receptor, family 9, subfamily Q,							113.0	90.0	98.0					11																	57947393		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947393G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.477G>T	11.37:g.57947393G>T							p.R159R	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	793	+		Breast(21;0.222)	159			Helical; Name=4; (Potential).		Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.477G>T	CCDS31543.1																																																																																				0.537	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		16	37	1	0	3.45872e-05	0.004007	3.79541e-05	16	37				
OR5B2	390190	broad.mit.edu	37	11	58190389	58190389	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:58190389T>A	ENST00000302581.2	-	1	397	c.346A>T	c.(346-348)Atg>Ttg	p.M116L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M116L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATAGGCCATTGAGGCCAAC	0.512																																							uc010rkg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(346-348)ATG>TTG		olfactory receptor, family 5, subfamily B,							123.0	102.0	109.0					11																	58190389		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190389T>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.346A>T	11.37:g.58190389T>A	ENSP00000303076:p.Met116Leu						p.M116L	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	346	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	116			Helical; Name=3; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.346A>T	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633774	0.47049	.	.	ENSG00000172365	ENST00000302581	T	0.00892	5.57	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000634	T	0.07458	0.0188	H	0.98769	4.325	0.35692	D	0.814968	D	0.60160	0.987	P	0.53360	0.724	T	0.20273	-1.0280	10	0.87932	D	0	-19.4319	11.5745	0.50854	0.0:0.0:0.0:1.0	.	116	Q96R09	OR5B2_HUMAN	L	116	ENSP00000303076:M116L	ENSP00000303076:M116L	M	-	1	0	OR5B2	57946965	1.000000	0.71417	0.818000	0.32626	0.054000	0.15201	5.850000	0.69473	1.681000	0.50988	0.477000	0.44152	ATG		0.512	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		17	39	0	0	0	0.00499	0	17	39				
B3GNT1	11041	broad.mit.edu	37	11	66113531	66113531	+	Silent	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:66113531G>T	ENST00000311181.4	-	2	1383	c.1237C>A	c.(1237-1239)Cga>Aga	p.R413R	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	413					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.R413R(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CAGCAGCGTCGGGGAGAGTTG	0.522																																							uc001ohr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1237-1239)CGA>AGA		UDP-GlcNAc:betaGal							212.0	194.0	200.0					11																	66113531		2200	4295	6495	SO:0001819	synonymous_variant	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66113531G>T	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1237C>A	11.37:g.66113531G>T						BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.R413R	NM_006876	NP_006867	O43505	B3GN1_HUMAN			2	1382	-			413			Lumenal (Potential).		Q4TTN0	Silent	SNP	ENST00000311181.4	37	c.1237C>A	CCDS8136.1																																																																																				0.522	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		35	112	1	0	9.62906e-15	0.00623	1.17059e-14	35	112				
DRD2	1813	broad.mit.edu	37	11	113288792	113288792	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:113288792A>G	ENST00000362072.3	-	3	696	c.352T>C	c.(352-354)Tgc>Cgc	p.C118R	DRD2_ENST00000538967.1_Missense_Mutation_p.C118R|DRD2_ENST00000544518.1_Missense_Mutation_p.C117R|DRD2_ENST00000346454.3_Missense_Mutation_p.C118R|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.C118R|DRD2_ENST00000355319.2_Missense_Mutation_p.C118R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	118					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.C118R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCGCCGTGCACATCATGACG	0.552																																							uc001pnz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(352-354)TGC>CGC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						181.0	125.0	144.0					11																	113288792		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113288792A>G	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.352T>C	11.37:g.113288792A>G	ENSP00000354859:p.Cys118Arg					DRD2_uc010rwv.1_Missense_Mutation_p.C117R|DRD2_uc001poa.3_Missense_Mutation_p.C118R|DRD2_uc001pob.3_Missense_Mutation_p.C118R|DRD2_uc009yyr.1_Missense_Mutation_p.C118R	p.C118R	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	673	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	118			Helical; Name=3; (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.352T>C	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.526244	0.85600	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;2.16	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.122140	0.85682	D	0.000000	D	0.90957	0.7157	H	0.98256	4.185	0.80722	D	1	D;D;D;D	0.60575	0.988;0.958;0.988;0.966	D;D;D;D	0.68943	0.934;0.934;0.934;0.961	D	0.94200	0.7449	10	0.87932	D	0	.	15.1017	0.72284	1.0:0.0:0.0:0.0	.	117;118;118;118	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	R	118;118;118;117;118;118;118	ENSP00000347474:C118R;ENSP00000278597:C118R;ENSP00000354859:C118R;ENSP00000441068:C117R;ENSP00000442172:C118R;ENSP00000438215:C118R;ENSP00000438419:C118R	ENSP00000278597:C118R	C	-	1	0	DRD2	112794002	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.245000	0.95431	2.095000	0.63458	0.533000	0.62120	TGC		0.552	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		8	29	0	0	0	0.006214	0	8	29				
HTR3B	9177	broad.mit.edu	37	11	113813798	113813798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:113813798C>A	ENST00000260191.2	+	7	1048	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	HTR3B_ENST00000537778.1_Missense_Mutation_p.P253Q	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	264					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.P264Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TTCTACCTGCCACCCAACTGC	0.587																																							uc001pok.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(790-792)CCA>CAA		5-hydroxytryptamine (serotonin) receptor 3B							106.0	83.0	91.0					11																	113813798		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813798C>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.791C>A	11.37:g.113813798C>A	ENSP00000260191:p.Pro264Gln					HTR3B_uc001pol.2_Missense_Mutation_p.P253Q	p.P264Q	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	858	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	264			Cytoplasmic (Potential).		B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.791C>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282041	0.80692	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.88741	-2.42;-2.42	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96534	0.9395	10	0.87932	D	0	-14.9768	19.1959	0.93689	0.0:1.0:0.0:0.0	.	253;264	O95264-2;O95264	.;5HT3B_HUMAN	Q	264;253	ENSP00000260191:P264Q;ENSP00000443118:P253Q	ENSP00000260191:P264Q	P	+	2	0	HTR3B	113319008	1.000000	0.71417	0.712000	0.30502	0.606000	0.37113	7.727000	0.84838	2.549000	0.85964	0.650000	0.86243	CCA		0.587	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		11	20	1	0	0.00136819	0.013537	0.00145005	11	20				
OVOS2	144203	broad.mit.edu	37	12	31267720	31267720	+	RNA	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:31267720A>G	ENST00000542490.1	-	0	757																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTTTATCTTTATACTCTATGT	0.318																																							uc010sjy.1		NA																	0					NA						c.(4147-4149)TAT>TAC		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							58.0	65.0	63.0					12																	31267720		1797	4070	5867			0							g.chr12:31267720A>G																													12.37:g.31267720A>G						uc001rjy.2_Intron|uc001rjz.2_Intron	p.Y1383Y							30	4149	-									Silent	SNP	ENST00000542490.1	37	c.4149T>C																																																																																					0.318	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			12	9	0	0	0	0.010729	0	12	9				
LINC01465	283416	broad.mit.edu	37	12	62996808	62996808	+	Missense_Mutation	SNP	G	G	C	rs556238766		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:62996808G>C	ENST00000408887.2	-	1	406	c.311C>G	c.(310-312)cCc>cGc	p.P104R	MIRLET7I_ENST00000362309.1_RNA|RP11-631N16.2_ENST00000550290.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN		104								p.P104R(1)		cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		GGGTGGCCTGGGGACTTCCCG	0.662																																							uc001sri.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CCC>CGC		hypothetical protein LOC283416							20.0	22.0	22.0					12																	62996808		2202	4299	6501	SO:0001583	missense	283416							g.chr12:62996808G>C																												ENST00000408887.2:c.311C>G	12.37:g.62996808G>C	ENSP00000386169:p.Pro104Arg					MIRLET7I_hsa-let-7i|MI0000434_5'Flank|uc001srj.1_5'Flank	p.P104R	NM_175895	NP_787091	Q8N7H1	CL061_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)	1	407	-			104					B2RMN9|Q3ZCV4	Missense_Mutation	SNP	ENST00000408887.2	37	c.311C>G	CCDS8964.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207315	0.39003	.	.	ENSG00000221949	ENST00000408887	.	.	.	2.58	1.66	0.24008	.	.	.	.	.	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	P	0.56612	0.802	T	0.09997	-1.0649	7	.	.	.	.	5.4288	0.16442	0.1716:0.0:0.8284:0.0	.	104	Q8N7H1	CL061_HUMAN	R	104	.	.	P	-	2	0	C12orf61	61283075	0.758000	0.28405	0.004000	0.12327	0.306000	0.27790	1.495000	0.35627	0.406000	0.25560	0.491000	0.48974	CCC		0.662	C12orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406740.2			5	8	0	0	0	0.000602	0	5	8				
KCNMB4	27345	broad.mit.edu	37	12	70794043	70794043	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:70794043A>G	ENST00000258111.4	+	2	850	c.391A>G	c.(391-393)Atg>Gtg	p.M131V		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	131					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.M131V(1)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GGAAAGTGTCATGAATTGGCA	0.348																																							uc001svx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)ATG>GTG		calcium-activated potassium channel beta 4							173.0	167.0	169.0					12																	70794043		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70794043A>G	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.391A>G	12.37:g.70794043A>G	ENSP00000258111:p.Met131Val						p.M131V	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	844	+	Renal(347;0.236)		131			Extracellular (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.391A>G	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	A	9.658	1.143322	0.21205	.	.	ENSG00000135643	ENST00000258111	T	0.08896	3.04	5.83	4.62	0.57501	.	0.296144	0.32328	N	0.006247	T	0.06050	0.0157	L	0.27053	0.805	0.28281	N	0.923995	B	0.13594	0.008	B	0.20384	0.029	T	0.19031	-1.0318	10	0.30078	T	0.28	-27.7385	7.3161	0.26501	0.7096:0.1481:0.0:0.1423	.	131	Q86W47	KCMB4_HUMAN	V	131	ENSP00000258111:M131V	ENSP00000258111:M131V	M	+	1	0	KCNMB4	69080310	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.245000	0.32790	2.235000	0.73313	0.533000	0.62120	ATG		0.348	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		52	73	0	0	0	0.01441	0	52	73				
OTOGL	283310	broad.mit.edu	37	12	80761504	80761504	+	Silent	SNP	A	A	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:80761504A>C	ENST00000547103.1	+	53	6438	c.6432A>C	c.(6430-6432)tcA>tcC	p.S2144S	OTOGL_ENST00000546620.1_Silent_p.S175S|OTOGL_ENST00000458043.2_Silent_p.S2156S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2144					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.S2156S(1)|p.S521S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAATTGTTCAAAAAAATGTG	0.328																																							uc009zsg.1		NA																	2	Substitution - coding silent(2)		lung(2)		NA						c.(106-108)TCA>TCC		RecName: Full=Uncharacterized protein C12orf64;							56.0	54.0	55.0					12																	80761504		2201	4287	6488	SO:0001819	synonymous_variant	0							g.chr12:80761504A>C	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6432A>C	12.37:g.80761504A>C						uc001szd.2_Silent_p.S175S	p.S36S							8	709	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.108A>C		.	.	.	.	.	.	.	.	.	.	A	7.433	0.639127	0.14386	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.53	-0.027	0.13928	.	.	.	.	.	T	0.69602	0.3129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68830	-0.5305	4	.	.	.	.	17.3008	0.87182	0.3722:0.6278:0.0:0.0	.	.	.	.	P	564	.	.	Q	+	2	0	OTOGL	79285635	0.994000	0.37717	0.997000	0.53966	0.813000	0.45954	0.363000	0.20301	-0.169000	0.10834	-0.399000	0.06403	CAA		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		2	0	0	0	0	0.004672	0	2	0				
MPHOSPH9	10198	broad.mit.edu	37	12	123687368	123687368	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:123687368G>A	ENST00000606320.1	-	10	1790	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	MPHOSPH9_ENST00000302349.5_Silent_p.N376N|MPHOSPH9_ENST00000541076.2_Silent_p.N498N|MPHOSPH9_ENST00000392425.3_Silent_p.N376N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	528						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.N376N(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TCCTACTTTCGTTTTGGAATG	0.403																																							uc001uel.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1126-1128)AAC>AAT		M-phase phosphoprotein 9							154.0	155.0	155.0					12																	123687368		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687368G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1584C>T	12.37:g.123687368G>A						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.N376N	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1235	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		376					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1128C>T																																																																																					0.403	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			5	155	0	0	0	0.000602	0	5	155				
POTEG	404785	broad.mit.edu	37	14	19553772	19553772	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:19553772C>T	ENST00000409832.3	+	1	408	c.356C>T	c.(355-357)cCt>cTt	p.P119L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	119								p.P119L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGTGGGCCCTTGGGGAGAC	0.597																																							uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)CCT>CTT		POTE ankyrin domain family, member G							391.0	424.0	413.0					14																	19553772		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553772C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.356C>T	14.37:g.19553772C>T	ENSP00000386971:p.Pro119Leu					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.P119L	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	408	+			119					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.356C>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	4.788	0.146587	0.09134	.	.	ENSG00000222036	ENST00000409832	T	0.25912	1.77	0.659	-0.511	0.11970	.	.	.	.	.	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.25293	-1.0136	8	0.62326	D	0.03	.	.	.	.	.	119	Q6S5H5	POTEG_HUMAN	L	119	ENSP00000386971:P119L	ENSP00000386971:P119L	P	+	2	0	POTEG	18623772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.081000	0.11321	-0.276000	0.09206	0.174000	0.16983	CCT		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		19	244	0	0	0	0.008871	0	19	244				
OR6S1	341799	broad.mit.edu	37	14	21109020	21109020	+	Silent	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:21109020C>A	ENST00000320704.3	-	1	830	c.831G>T	c.(829-831)gtG>gtT	p.V277V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V277V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TTATTACTGTCACTGCCCAGT	0.458																																							uc001vxv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)GTG>GTT		olfactory receptor, family 6, subfamily S,							204.0	172.0	183.0					14																	21109020		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109020C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.831G>T	14.37:g.21109020C>A							p.V277V	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	831	-	all_cancers(95;0.00304)		277			Helical; Name=7; (Potential).		Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.831G>T	CCDS32038.1																																																																																				0.458	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			44	58	1	0	4.67007e-22	0.00874	5.84937e-22	44	58				
RALGAPA1	253959	broad.mit.edu	37	14	36159051	36159051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:36159051G>A	ENST00000389698.3	-	17	2815	c.2425C>T	c.(2425-2427)Cga>Tga	p.R809*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R809*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.R856*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R809*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	809					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R809*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTTTGGCTCGTTCAACAGTG	0.458																																							uc001wti.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(1)	4						c.(2425-2427)CGA>TGA		Ral GTPase activating protein, alpha subunit 1							109.0	101.0	104.0					14																	36159051		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36159051G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2425C>T	14.37:g.36159051G>A	ENSP00000374348:p.Arg809*					RALGAPA1_uc001wtj.2_Nonsense_Mutation_p.R809*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.R809*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.R856*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.R707*	p.R809*	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			17	2816	-			809					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.2425C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	40	8.438463	0.98810	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4277	13.9828	0.64315	0.0:0.0:0.7239:0.2761	.	.	.	.	X	809;809;809;856;809;856	.	ENSP00000258840:R856X	R	-	1	2	RALGAPA1	35228802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.270000	0.72563	1.459000	0.47892	0.650000	0.86243	CGA		0.458	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		37	24	0	0	0	0.007835	0	37	24				
MDGA2	161357	broad.mit.edu	37	14	47600918	47600918	+	Splice_Site	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:47600918T>A	ENST00000399232.2	-	5	1081	c.717A>T	c.(715-717)acA>acT	p.T239T	MDGA2_ENST00000439988.3_Splice_Site_p.T308T|MDGA2_ENST00000426342.1_Splice_Site_p.T10T|MDGA2_ENST00000357362.3_Splice_Site_p.T10T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	239					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T10T(2)|p.T308T(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTCCATACCTGTTTTATTGG	0.328																																							uc001wwj.3		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(715-717)ACA>ACT		MAM domain containing 1 isoform 1							123.0	110.0	114.0					14																	47600918		1851	4098	5949	SO:0001630	splice_region_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47600918T>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.718+1A>T	14.37:g.47600918T>A						MDGA2_uc001wwi.3_Silent_p.T10T|MDGA2_uc010ani.2_5'UTR	p.T239T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			5	913	-			239					F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.717A>T		.	.	.	.	.	.	.	.	.	.	T	13.64	2.297928	0.40694	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.34	1.59	0.23543	.	.	.	.	.	T	0.45796	0.1360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	.	3.6751	0.08288	0.131:0.0739:0.1369:0.6582	.	.	.	.	W	42	.	.	R	-	1	2	MDGA2	46670668	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.445000	0.35079	0.084000	0.17077	0.477000	0.44152	AGG		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	Silent	15	10	0	0	0	0.006122	0	15	10				
SYNE2	23224	broad.mit.edu	37	14	64449507	64449507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:64449507C>T	ENST00000344113.4	+	17	2208	c.1996C>T	c.(1996-1998)Caa>Taa	p.Q666*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q666*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q666*|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	666					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q666*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAAAAACTCAACTTGTAAG	0.323																																							uc001xgm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1996-1998)CAA>TAA		spectrin repeat containing, nuclear envelope 2							77.0	76.0	76.0					14																	64449507		1846	4096	5942	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64449507C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1996C>T	14.37:g.64449507C>T	ENSP00000341781:p.Gln666*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q666*	p.Q666*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	17	2226	+			666			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.1996C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	40	8.278234	0.98740	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.98	5.98	0.97165	.	0.518955	0.17877	N	0.158977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	18.2316	0.89937	0.0:1.0:0.0:0.0	.	.	.	.	X	666	.	ENSP00000261678:Q666X	Q	+	1	0	SYNE2	63519260	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.320000	0.43797	2.838000	0.97847	0.655000	0.94253	CAA		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		21	22	0	0	0	0.014323	0	21	22				
DICER1	23405	broad.mit.edu	37	14	95578531	95578531	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:95578531G>A	ENST00000526495.1	-	15	2385	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	DICER1_ENST00000541352.1_Silent_p.C698C|DICER1_ENST00000527414.1_Silent_p.C698C|DICER1_ENST00000343455.3_Silent_p.C698C|DICER1_ENST00000393063.1_Silent_p.C698C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	698	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.C698C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTCACAGCAAATGAGAG	0.343			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(2092-2094)TGC>TGT		dicer1							102.0	95.0	97.0					14																	95578531		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95578531G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2094C>T	14.37:g.95578531G>A						DICER1_uc001ydv.2_Silent_p.C688C|DICER1_uc001ydx.2_Silent_p.C698C	p.C698C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	14	2276	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	698			Dicer dsRNA-binding fold.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.2094C>T	CCDS9931.1																																																																																				0.343	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			3	53	0	0	0	0.009096	0	3	53				
AHNAK2	113146	broad.mit.edu	37	14	105409159	105409159	+	Missense_Mutation	SNP	G	G	A	rs202233797	byFrequency	TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:105409159G>A	ENST00000333244.5	-	7	12748	c.12629C>T	c.(12628-12630)gCc>gTc	p.A4210V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4210						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A4210V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAGGCCGGCTCCCTTGGG	0.642																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(12628-12630)GCC>GTC		AHNAK nucleoprotein 2							94.0	102.0	99.0					14																	105409159		1863	4091	5954	SO:0001583	missense	113146					nucleus		g.chr14:105409159G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12629C>T	14.37:g.105409159G>A	ENSP00000353114:p.Ala4210Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.A4110V	p.A4210V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12749	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4210					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12629C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.25	2.480798	0.44044	.	.	ENSG00000185567	ENST00000333244	T	0.00768	5.72	3.61	-4.18	0.03846	.	0.514426	0.13911	N	0.354267	T	0.00998	0.0033	L	0.43923	1.385	0.09310	N	1	P	0.35894	0.526	P	0.48598	0.583	T	0.43426	-0.9392	10	0.26408	T	0.33	.	1.7885	0.03046	0.3986:0.2225:0.2669:0.112	.	4210	Q8IVF2	AHNK2_HUMAN	V	4210	ENSP00000353114:A4210V	ENSP00000353114:A4210V	A	-	2	0	AHNAK2	104480204	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.057000	0.11768	-0.718000	0.04949	0.306000	0.20318	GCC		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	125	0	0	0	0.009096	0	4	125				
TTBK2	146057	broad.mit.edu	37	15	43069415	43069415	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr15:43069415T>C	ENST00000267890.6	-	12	1331	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R	TTBK2_ENST00000567840.1_Missense_Mutation_p.H408R|TTBK2_ENST00000567274.1_Missense_Mutation_p.H373R	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	408					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H408R(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGCCTGGCCATGGCTGTTCTC	0.443																																							uc001zqo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(1222-1224)CAT>CGT		tau tubulin kinase 2							72.0	70.0	70.0					15																	43069415		1901	4118	6019	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43069415T>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1223A>G	15.37:g.43069415T>C	ENSP00000267890:p.His408Arg					TTBK2_uc010bcy.2_Missense_Mutation_p.H339R|TTBK2_uc001zqp.2_Missense_Mutation_p.H408R|TTBK2_uc010bcz.1_Missense_Mutation_p.H373R	p.H408R	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	12	1662	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	408					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1223A>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	7.128	0.579391	0.13686	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37584	1.19	5.61	5.61	0.85477	.	0.057541	0.64402	D	0.000002	T	0.22282	0.0537	N	0.02916	-0.46	0.50467	D	0.999872	B;B;B;B	0.25563	0.008;0.129;0.007;0.079	B;B;B;B	0.31946	0.007;0.138;0.02;0.065	T	0.20042	-1.0287	10	0.87932	D	0	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	813;339;408;408	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	R	408;338;813	ENSP00000267890:H408R	ENSP00000263802:H813R	H	-	2	0	TTBK2	40856707	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.407000	0.80029	2.127000	0.65507	0.533000	0.62120	CAT		0.443	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		19	13	0	0	0	0.010504	0	19	13				
ACAN	176	broad.mit.edu	37	15	89417108	89417108	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr15:89417108A>G	ENST00000561243.1	+	16	7369	c.7369A>G	c.(7369-7371)Agg>Ggg	p.R2457G	ACAN_ENST00000559004.1_Missense_Mutation_p.R2419G|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Missense_Mutation_p.R2457G			P16112	PGCA_HUMAN	aggrecan	2342					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R2343G(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGCATGCCAGGACCTTCGG	0.587																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(7369-7371)AGG>GGG		aggrecan isoform 2 precursor							43.0	47.0	46.0					15																	89417108		1963	4143	6106	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417108A>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7369A>G	15.37:g.89417108A>G	ENSP00000453342:p.Arg2457Gly					ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	p.R2457G	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7743	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2457					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.7369A>G	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175156	0.38413	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.24908	1.83	5.31	4.12	0.48240	.	0.000000	0.35838	N	0.002955	T	0.43523	0.1251	M	0.69358	2.11	0.22489	N	0.999057	D	0.63880	0.993	D	0.72338	0.977	T	0.22034	-1.0228	10	0.72032	D	0.01	-20.4317	7.032	0.24972	0.6327:0.2371:0.0:0.1302	.	2457	E7EX88	.	G	2457;2343	ENSP00000387356:R2457G	ENSP00000268134:R2343G	R	+	1	2	ACAN	87218112	0.998000	0.40836	1.000000	0.80357	0.066000	0.16364	1.046000	0.30354	2.008000	0.58898	0.528000	0.53228	AGG		0.587	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		11	15	0	0	0	0.013537	0	11	15				
CHD9	80205	broad.mit.edu	37	16	53358590	53358590	+	Missense_Mutation	SNP	A	A	T	rs186464149		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:53358590A>T	ENST00000398510.3	+	38	8564	c.8477A>T	c.(8476-8478)gAt>gTt	p.D2826V	CHD9_ENST00000447540.1_Missense_Mutation_p.D2811V|CHD9_ENST00000564845.1_Missense_Mutation_p.D2810V|CHD9_ENST00000566029.1_Missense_Mutation_p.D2810V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2826					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2827V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATACTTTTGATGTACAAAAC	0.368																																							uc002ehb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8476-8478)GAT>GTT		chromodomain helicase DNA binding protein 9							65.0	57.0	60.0					16																	53358590		1837	4087	5924	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358590A>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8477A>T	16.37:g.53358590A>T	ENSP00000381522:p.Asp2826Val					CHD9_uc002egy.2_Missense_Mutation_p.D2810V|CHD9_uc002ehc.2_Missense_Mutation_p.D2811V|CHD9_uc002ehf.2_Missense_Mutation_p.D1924V|CHD9_uc010cbw.2_Missense_Mutation_p.D892V	p.D2826V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8641	+		all_cancers(37;0.0212)	2826					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8477A>T		.	.	.	.	.	.	.	.	.	.	A	11.68	1.710266	0.30322	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86865	-2.18	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000040	D	0.89164	0.6637	L	0.27053	0.805	0.80722	D	1	D;B;D;B	0.76494	0.999;0.403;0.999;0.403	D;B;D;B	0.80764	0.994;0.087;0.941;0.087	D	0.90644	0.4577	10	0.66056	D	0.02	-20.5788	15.4522	0.75282	1.0:0.0:0.0:0.0	.	892;2811;2826;2810	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	2811;2810;892	ENSP00000396345:D2811V	ENSP00000381522:D2810V	D	+	2	0	CHD9	51916091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.541000	0.53618	2.111000	0.64477	0.533000	0.62120	GAT		0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		10	12	0	0	0	0.008291	0	10	12				
NUDT7	283927	broad.mit.edu	37	16	77775669	77775669	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:77775669C>G	ENST00000268533.5	+	4	608	c.539C>G	c.(538-540)cCt>cGt	p.P180R	RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.P127R	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	180					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.P180R(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TACACAAACCCTGAAGACGGT	0.453																																							uc010chd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(538-540)CCT>CGT		nudix motif 7							96.0	91.0	93.0					16																	77775669		1926	4142	6068	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775669C>G	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.539C>G	16.37:g.77775669C>G	ENSP00000268533:p.Pro180Arg					NUDT7_uc010vnj.1_Missense_Mutation_p.P127R	p.P180R	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			4	608	+			180					B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.539C>G	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441358	0.43326	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.45668	0.89;0.89	5.54	5.54	0.83059	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.190447	0.47852	D	0.000208	T	0.58250	0.2109	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.65773	0.938;0.825	T	0.54463	-0.8290	10	0.14656	T	0.56	-16.9009	12.0414	0.53454	0.1721:0.8279:0.0:0.0	.	127;180	B4DLE5;P0C024	.;NUDT7_HUMAN	R	180;127	ENSP00000268533:P180R;ENSP00000387707:P127R	ENSP00000268533:P180R	P	+	2	0	NUDT7	76333170	0.950000	0.32346	0.473000	0.27253	0.024000	0.10985	3.570000	0.53834	2.595000	0.87683	0.655000	0.94253	CCT		0.453	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			19	30	0	0	0	0.007413	0	19	30				
MVD	4597	broad.mit.edu	37	16	88721708	88721708	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:88721708T>G	ENST00000301012.3	-	7	825	c.796A>C	c.(796-798)Acc>Ccc	p.T266P	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	266					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)	p.T266P(1)		endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCGAGGCAGGTGGCGTGGAAC	0.647																																							uc002flg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(796-798)ACC>CCC		diphosphomevalonate decarboxylase							255.0	189.0	212.0					16																	88721708		2191	4297	6488	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721708T>G	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.796A>C	16.37:g.88721708T>G	ENSP00000301012:p.Thr266Pro					MVD_uc002flf.1_Missense_Mutation_p.T135P	p.T266P	NM_002461	NP_002452	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	803	-			266					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.796A>C	CCDS10968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.347295|4.347295	0.82022|0.82022	.|.	.|.	ENSG00000167508|ENSG00000167508	ENST00000378400|ENST00000301012	.|T	.|0.29397	.|1.57	4.53|4.53	3.43|3.43	0.39272|0.39272	.|.	.|0.049422	.|0.85682	.|D	.|0.000000	T|T	0.56499|0.56499	0.1989|0.1989	M|M	0.91406|0.91406	3.205|3.205	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.60160	.|0.987	.|P	.|0.60068	.|0.868	T|T	0.62845|0.62845	-0.6768|-0.6768	5|10	.|0.66056	.|D	.|0.02	-1.0E-4|-1.0E-4	10.1693|10.1693	0.42900|0.42900	0.0:0.0802:0.0:0.9197|0.0:0.0802:0.0:0.9197	.|.	.|266	.|P53602	.|MVD1_HUMAN	P|P	94|266	.|ENSP00000301012:T266P	.|ENSP00000301012:T266P	H|T	-|-	2|1	0|0	MVD|MVD	87249209|87249209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	4.332000|4.332000	0.59279|0.59279	0.705000|0.705000	0.31890|0.31890	0.402000|0.402000	0.26972|0.26972	CAC|ACC		0.647	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		4	10	0	0	0	0.009096	0	4	10				
VPS9D1	9605	broad.mit.edu	37	16	89775334	89775334	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:89775334G>A	ENST00000389386.3	-	13	1752	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A473V|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	543	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)	p.A543V(1)									GTAGTCTTCCGCACAGACACA	0.682																																							uc002fom.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1627-1629)GCG>GTG		chromosome 16 open reading frame 7							14.0	17.0	16.0					16																	89775334		1953	4134	6087	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89775334G>A	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1628C>T	16.37:g.89775334G>A	ENSP00000374037:p.Ala543Val					C16orf7_uc002fol.1_Missense_Mutation_p.A473V|uc002fon.1_5'Flank	p.A543V	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	13	1753	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	543			VPS9.			Missense_Mutation	SNP	ENST00000389386.3	37	c.1628C>T	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430917	0.43122	.	.	ENSG00000075399	ENST00000389386	T	0.27104	1.69	4.94	4.94	0.65067	Vacuolar sorting protein 9 (2);	0.058083	0.64402	D	0.000002	T	0.23014	0.0556	N	0.21617	0.685	0.50313	D	0.999867	D	0.53745	0.962	P	0.51895	0.683	T	0.01520	-1.1334	10	0.02654	T	1	-13.9196	15.2315	0.73395	0.0:0.0:1.0:0.0	.	543	Q9Y2B5	CP007_HUMAN	V	543	ENSP00000374037:A543V	ENSP00000374037:A543V	A	-	2	0	C16orf7	88302835	1.000000	0.71417	0.641000	0.29422	0.077000	0.17291	8.987000	0.93497	2.445000	0.82738	0.511000	0.50034	GCG		0.682	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		6	5	0	0	0	0.001984	0	6	5				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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.(526-528)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe	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.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	p.C176F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	16	1	0	3.1745e-13	0.008361	3.82172e-13	31	16				
KRT16P2	400578	broad.mit.edu	37	17	16734453	16734453	+	RNA	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:16734453C>G	ENST00000579062.1	-	0	563									keratin 16 pseudogene 2									p.L278L(1)									CCACCTTGCTCAGGAACCAGG	0.612																																							uc010vwr.1		NA																	1	Substitution - coding silent(1)		lung(1)		NA						c.(565-567)TGA>TCA		SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16;																																						0							g.chr17:16734453C>G			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734453C>G							p.*189S							4	1008	-									Nonstop_Mutation	SNP	ENST00000579062.1	37	c.566G>C																																																																																					0.612	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		6	9	0	0	0	0.001984	0	6	9				
KRT16P2	400578	broad.mit.edu	37	17	16734472	16734472	+	RNA	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:16734472C>G	ENST00000579062.1	-	0	563									keratin 16 pseudogene 2									p.D273H(1)									GGCCCAGCATCTCTGTGGTTG	0.607																																							uc010vwr.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(547-549)GAT>CAT		SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16;																																						0							g.chr17:16734472C>G			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734472C>G							p.D183H							4	989	-									Missense_Mutation	SNP	ENST00000579062.1	37	c.547G>C																																																																																					0.607	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		6	12	0	0	0	0.00308	0	6	12				
SMARCE1	6605	broad.mit.edu	37	17	38787102	38787102	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:38787102G>A	ENST00000348513.6	-	10	1671	c.891C>T	c.(889-891)cgC>cgT	p.R297R	SMARCE1_ENST00000578044.1_Silent_p.R227R|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Silent_p.R227R|SMARCE1_ENST00000431889.2_Silent_p.R279R|SMARCE1_ENST00000400122.3_Silent_p.R227R|SMARCE1_ENST00000580419.1_Silent_p.R262R|SMARCE1_ENST00000377808.4_Silent_p.R262R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.R297R(1)		large_intestine(1)	1		Breast(137;0.000812)				CCTGCCTTTTGCGGGCCTGTT	0.512																																							uc002hux.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)CGC>CGT		SWI/SNF-related matrix-associated							123.0	108.0	113.0					17																	38787102		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787102G>A	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.891C>T	17.37:g.38787102G>A						SMARCE1_uc010wff.1_Silent_p.R262R|SMARCE1_uc010wfg.1_Silent_p.R227R|SMARCE1_uc002huy.2_Silent_p.R262R|SMARCE1_uc010wfh.1_Silent_p.R227R|SMARCE1_uc010wfi.1_Silent_p.R279R	p.R297R	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			10	1015	-		Breast(137;0.000812)	297			Potential.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.891C>T	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.546|9.546	1.114753|1.114753	0.20795|0.20795	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000264640	.|.	.|.	.|.	5.47|5.47	2.3|2.3	0.28687|0.28687	.|.	.|.	.|.	.|.	.|.	T|.	0.51702|.	0.1690|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38735|.	-0.9647|.	4|.	.|.	.|.	.|.	.|.	4.7889|4.7889	0.13239|0.13239	0.0666:0.2455:0.4344:0.2535|0.0666:0.2455:0.4344:0.2535	.|.	.|.	.|.	.|.	V|X	123|111	.|.	.|.	A|Q	-|-	2|1	0|0	SMARCE1|SMARCE1	36040628|36040628	0.941000|0.941000	0.31946|0.31946	0.984000|0.984000	0.44739|0.44739	0.867000|0.867000	0.49689|0.49689	-0.047000|-0.047000	0.11963|0.11963	0.335000|0.335000	0.23614|0.23614	0.561000|0.561000	0.74099|0.74099	GCA|CAA		0.512	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		84	53	0	0	0	0.01441	0	84	53				
CALCOCO2	10241	broad.mit.edu	37	17	46940221	46940221	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:46940221A>G	ENST00000258947.3	+	13	1296	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I357V|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I327V|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I423V|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I420V	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	399	Interaction with MYO6.				response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.I399V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAAATGCCCTATCTGCAAAGC	0.453																																							uc002iof.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1195-1197)ATC>GTC		calcium binding and coiled-coil domain 2							129.0	120.0	123.0					17																	46940221		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46940221A>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1195A>G	17.37:g.46940221A>G	ENSP00000258947:p.Ile399Val					CALCOCO2_uc010wlp.1_Missense_Mutation_p.I420V|CALCOCO2_uc010wlq.1_Missense_Mutation_p.I327V|CALCOCO2_uc010wlr.1_Missense_Mutation_p.I423V|CALCOCO2_uc010wls.1_Missense_Mutation_p.I357V	p.I399V	NM_005831	NP_005822	Q13137	CACO2_HUMAN			13	1274	+			399			Interaction with MYO6.		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.1195A>G	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885607	0.33255	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000508679;ENST00000507306	T;T;T;T;T	0.14391	2.87;2.74;2.87;2.75;2.51	4.65	2.37	0.29283	.	0.950264	0.08725	N	0.902918	T	0.11707	0.0285	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.13145	0.001;0.007;0.003;0.002	B;B;B;B	0.09377	0.002;0.004;0.003;0.002	T	0.39313	-0.9620	10	0.27082	T	0.32	0.4964	4.3912	0.11341	0.6932:0.2024:0.1044:0.0	.	357;423;420;399	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	V	399;420;423;357;327;67	ENSP00000258947:I399V;ENSP00000424352:I420V;ENSP00000398523:I423V;ENSP00000406974:I357V;ENSP00000423437:I327V	ENSP00000258947:I399V	I	+	1	0	CALCOCO2	44295220	0.000000	0.05858	0.012000	0.15200	0.822000	0.46500	0.191000	0.17076	0.288000	0.22398	0.397000	0.26171	ATC		0.453	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		73	27	0	0	0	0.01441	0	73	27				
GRIN2C	2905	broad.mit.edu	37	17	72846773	72846773	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:72846773A>G	ENST00000293190.5	-	5	1393	c.1247T>C	c.(1246-1248)gTg>gCg	p.V416A	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V416A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	416					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.V416A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGGCTCTCCACGATGACAAA	0.657																																							uc002jlt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1246-1248)GTG>GCG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						76.0	69.0	71.0					17																	72846773		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846773A>G		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1247T>C	17.37:g.72846773A>G	ENSP00000293190:p.Val416Ala					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.V416A|GRIN2C_uc002jlv.1_3'UTR	p.V416A	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			5	1403	-	all_lung(278;0.172)|Lung NSC(278;0.207)		416			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1247T>C	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536757	0.27475	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.53640	0.61	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.82193	2.58	0.58432	D	0.999998	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.97	T	0.75986	-0.3124	10	0.87932	D	0	.	14.0519	0.64742	1.0:0.0:0.0:0.0	.	450;416	Q8IW23;Q14957	.;NMDE3_HUMAN	A	416;450	ENSP00000293190:V416A	ENSP00000293190:V416A	V	-	2	0	GRIN2C	70358368	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	8.967000	0.93402	2.048000	0.60808	0.454000	0.30748	GTG		0.657	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			36	35	0	0	0	0.004289	0	36	35				
OR7G3	390883	broad.mit.edu	37	19	9237500	9237500	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:9237500G>C	ENST00000305444.2	-	1	126	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L43V(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGATGAGCAGGTTCCCCAGC	0.547																																							uc010xkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)CTG>GTG		olfactory receptor, family 7, subfamily G,							110.0	94.0	100.0					19																	9237500		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237500G>C		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.127C>G	19.37:g.9237500G>C	ENSP00000302867:p.Leu43Val						p.L43V	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			1	127	-			43			Helical; Name=1; (Potential).		Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.127C>G	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529015	0.27387	.	.	ENSG00000170920	ENST00000305444	T	0.00428	7.44	4.02	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.240218	0.21148	U	0.079373	T	0.00440	0.0014	M	0.71296	2.17	0.24671	N	0.993413	D	0.54772	0.968	P	0.44447	0.45	T	0.50659	-0.8802	10	0.66056	D	0.02	.	6.6163	0.22778	0.1016:0.288:0.6104:0.0	.	43	Q8NG95	OR7G3_HUMAN	V	43	ENSP00000302867:L43V	ENSP00000302867:L43V	L	-	1	2	OR7G3	9098500	0.000000	0.05858	0.997000	0.53966	0.181000	0.23173	-1.215000	0.02985	1.051000	0.40369	0.558000	0.71614	CTG		0.547	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			14	20	0	0	0	0.003163	0	14	20				
KEAP1	9817	broad.mit.edu	37	19	10602335	10602335	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:10602335G>A	ENST00000171111.5	-	3	1790	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R415C|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	415					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R415C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACCCCGATGCGGTTACGGGGC	0.657																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1243-1245)CGC>TGC		kelch-like ECH-associated protein 1							33.0	29.0	30.0					19																	10602335		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602335G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1243C>T	19.37:g.10602335G>A	ENSP00000171111:p.Arg415Cys					KEAP1_uc002mop.1_Missense_Mutation_p.R133C|KEAP1_uc002mor.1_Missense_Mutation_p.R415C	p.R415C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1399	-			415	R->A: Loss of interaction with NFE2L2. Abolishes repression of NFE2L2-dependent gene expression. Loss of interaction with PGAM5.		Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1243C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360611	0.82353	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77750	-1.12;-1.12	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	P	0.60415	0.874	T	0.79490	-0.1782	10	0.35671	T	0.21	.	12.1161	0.53866	0.0:0.0:0.8286:0.1714	.	415	Q14145	KEAP1_HUMAN	C	415	ENSP00000171111:R415C;ENSP00000377245:R415C	ENSP00000171111:R415C	R	-	1	0	KEAP1	10463335	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.181000	0.50903	2.662000	0.90505	0.655000	0.94253	CGC		0.657	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		8	8	0	0	0	0.004482	0	8	8				
PAK4	10298	broad.mit.edu	37	19	39660357	39660357	+	Missense_Mutation	SNP	A	A	C	rs112229040		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:39660357A>C	ENST00000593690.1	+	4	591	c.164A>C	c.(163-165)gAc>gCc	p.D55A	PAK4_ENST00000599470.1_Missense_Mutation_p.D55A|PAK4_ENST00000358301.3_Missense_Mutation_p.D55A|PAK4_ENST00000360442.3_Missense_Mutation_p.D55A|PAK4_ENST00000435673.2_Missense_Mutation_p.D55A|PAK4_ENST00000599386.1_Missense_Mutation_p.D55A|PAK4_ENST00000321944.4_Missense_Mutation_p.D55A	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	55	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D55A(2)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCTCGTCGACCCCGCCTGC	0.716																																							uc002okj.1		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	lung(3)|ovary(1)	4						c.(163-165)GAC>GCC		p21-activated kinase 4 isoform 1							24.0	28.0	27.0					19																	39660357		2199	4292	6491	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660357A>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.164A>C	19.37:g.39660357A>C	ENSP00000469413:p.Asp55Ala					PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A	p.D55A	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	625	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		55			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.164A>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220419	0.39201	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.83	3.83	0.44106	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.86740	2.835	0.53005	D	0.999968	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	T	0.71002	-0.4718	10	0.59425	D	0.04	.	10.8754	0.46909	1.0:0.0:0.0:0.0	.	55;55;55	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	A	55	ENSP00000351049:D55A;ENSP00000326864:D55A;ENSP00000392753:D55A;ENSP00000353625:D55A	ENSP00000326864:D55A	D	+	2	0	PAK4	44352197	1.000000	0.71417	0.979000	0.43373	0.292000	0.27327	6.056000	0.71111	1.718000	0.51419	0.449000	0.29647	GAC		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			6	11	0	0	0	0.001855	0	6	11				
ITSN2	50618	broad.mit.edu	37	2	24432687	24432687	+	Splice_Site	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:24432687C>T	ENST00000355123.4	-	35	4916	c.4473G>A	c.(4471-4473)acG>acA	p.T1491T	ITSN2_ENST00000361999.3_Splice_Site_p.T1464T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1491	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.T1490T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACTCACCGTTTTATACA	0.502																																							uc002rfe.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4471-4473)ACG>ACA		intersectin 2 isoform 1							84.0	75.0	78.0					2																	24432687		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432687C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4473+1G>A	2.37:g.24432687C>T						ITSN2_uc002rff.2_Silent_p.T1464T	p.T1491T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			35	4731	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1491			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4473G>A	CCDS1710.2																																																																																				0.502	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	23	63	0	0	0	0.014323	0	23	63				
EML4	27436	broad.mit.edu	37	2	42552612	42552612	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:42552612T>C	ENST00000318522.5	+	20	2422	c.2160T>C	c.(2158-2160)caT>caC	p.H720H	EML4_ENST00000401738.3_Silent_p.H731H|EML4_ENST00000402711.2_Silent_p.H662H|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	720					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.H720H(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTAGGGACATTCCAGCTACA	0.348			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	1	Substitution - coding silent(1)		lung(1)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(2158-2160)CAT>CAC		echinoderm microtubule associated protein like 4							51.0	48.0	49.0					2																	42552612		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42552612T>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2160T>C	2.37:g.42552612T>C						EML4_uc010fap.2_Silent_p.H662H|EML4_uc002rsj.2_Silent_p.H409H|EML4_uc010faq.2_Silent_p.H65H|EML4_uc010ynv.1_5'UTR	p.H720H	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			20	2422	+			720			WD 8.		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.2160T>C	CCDS1807.1																																																																																				0.348	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		3	10	0	0	0	0.004672	0	3	10				
PRKCE	5581	broad.mit.edu	37	2	46411986	46411986	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:46411986G>T	ENST00000306156.3	+	15	2507	c.2180G>T	c.(2179-2181)gGt>gTt	p.G727V		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	727	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.G727V(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GAATTCAAAGGTTTCTCCTAC	0.498																																							uc002rut.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(2179-2181)GGT>GTT		protein kinase C, epsilon							83.0	85.0	85.0					2																	46411986		1818	3811	5629	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46411986G>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.2180G>T	2.37:g.46411986G>T	ENSP00000306124:p.Gly727Val						p.G727V	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		15	2377	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	727			AGC-kinase C-terminal.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.2180G>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875167	0.91664	.	.	ENSG00000171132	ENST00000306156	T	0.79352	-1.26	5.42	5.42	0.78866	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	H	0.98388	4.22	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	D	0.95295	0.8398	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	727	Q02156	KPCE_HUMAN	V	727	ENSP00000306124:G727V	ENSP00000306124:G727V	G	+	2	0	PRKCE	46265490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.803000	0.85983	2.820000	0.97059	0.650000	0.86243	GGT		0.498	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			25	40	1	0	4.26978e-12	0.00333	4.99483e-12	25	40				
REG1B	5968	broad.mit.edu	37	2	79314689	79314689	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:79314689A>G	ENST00000305089.3	-	2	130	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	17					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.L17P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCTCAGAGACAGGAACATCAG	0.468																																							uc002sny.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(49-51)CTG>CCG		regenerating islet-derived 1 beta precursor							138.0	113.0	122.0					2																	79314689		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314689A>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.50T>C	2.37:g.79314689A>G	ENSP00000303206:p.Leu17Pro					REG1B_uc010ffv.1_Missense_Mutation_p.L17P|REG1B_uc010ffw.2_Missense_Mutation_p.L17P	p.L17P	NM_006507	NP_006498	P48304	REG1B_HUMAN			2	162	-			17						Missense_Mutation	SNP	ENST00000305089.3	37	c.50T>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.960126	0.53400	.	.	ENSG00000172023	ENST00000305089	T	0.04917	3.53	2.71	1.55	0.23275	.	0.591557	0.12885	N	0.431094	T	0.10551	0.0258	M	0.84326	2.69	0.39396	D	0.9665	B;B	0.24132	0.098;0.098	B;B	0.27500	0.08;0.08	T	0.04870	-1.0921	10	0.87932	D	0	.	4.4224	0.11486	0.8394:0.0:0.1606:0.0	.	17;17	Q6ICS1;P48304	.;REG1B_HUMAN	P	17	ENSP00000303206:L17P	ENSP00000303206:L17P	L	-	2	0	REG1B	79168197	0.013000	0.17824	0.527000	0.27925	0.740000	0.42216	1.330000	0.33781	0.457000	0.26962	0.454000	0.30748	CTG		0.468	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		9	27	0	0	0	0.004482	0	9	27				
MAL	4118	broad.mit.edu	37	2	95715324	95715324	+	Splice_Site	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:95715324A>G	ENST00000309988.4	+	3	370		c.e3-1		MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Splice_Site|MAL_ENST00000353004.3_Intron|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCTGCCCCATAGGACGCAGCC	0.657																																							uc002stx.1		NA																	1	Unknown(1)		lung(1)		0						c.e3-2		T-lymphocyte maturation-associated protein							124.0	112.0	116.0					2																	95715324		2203	4300	6503	SO:0001630	splice_region_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95715324A>G		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.262-1A>G	2.37:g.95715324A>G						MAL_uc002sty.1_Splice_Site_p.D32_splice|MAL_uc002stz.1_Intron|MAL_uc002sua.1_Intron	p.D88_splice	NM_002371	NP_002362	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	3	321	+								Q6FH77	Splice_Site	SNP	ENST00000309988.4	37	c.262_splice	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734974	0.30774	.	.	ENSG00000172005	ENST00000309988;ENST00000354078	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7685	0.51945	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAL	95079051	1.000000	0.71417	0.982000	0.44146	0.020000	0.10135	7.516000	0.81772	2.045000	0.60652	0.402000	0.26972	.		0.657	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371	Intron	21	33	0	0	0	0.00333	0	21	33				
TGFBRAP1	9392	broad.mit.edu	37	2	105883921	105883921	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:105883921T>C	ENST00000393359.2	-	12	2928	c.2502A>G	c.(2500-2502)ccA>ccG	p.P834P	AC012360.2_ENST00000595531.1_5'Flank|TGFBRAP1_ENST00000258449.1_Silent_p.P834P			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	834					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.P834P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GACCACCATTTGGGTATCTAA	0.493																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2500-2502)CCA>CCG		transforming growth factor, beta receptor							142.0	128.0	133.0					2																	105883921		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105883921T>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2502A>G	2.37:g.105883921T>C						TGFBRAP1_uc010fjc.2_Silent_p.P603P|TGFBRAP1_uc002tcr.3_Silent_p.P834P|uc002tcp.2_5'Flank	p.P834P	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			12	2586	-			834					A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.2502A>G	CCDS2067.1																																																																																				0.493	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		42	53	0	0	0	0.009718	0	42	53				
ABCA12	26154	broad.mit.edu	37	2	215862422	215862422	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:215862422A>T	ENST00000272895.7	-	23	3510	c.3291T>A	c.(3289-3291)caT>caA	p.H1097Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.H779Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1097					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.H1097Q(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACATACCTCATGAAGCCGGA	0.358																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3289-3291)CAT>CAA		ATP-binding cassette, sub-family A, member 12							75.0	72.0	73.0					2																	215862422		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215862422A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3291T>A	2.37:g.215862422A>T	ENSP00000272895:p.His1097Gln					ABCA12_uc002vev.2_Missense_Mutation_p.H779Q|ABCA12_uc010zjn.1_Missense_Mutation_p.H24Q	p.H1097Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	23	3511	-		Renal(323;0.127)	1097					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3291T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434280	0.62955	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82433	-1.61;-1.61	5.97	2.27	0.28462	.	0.088222	0.49916	D	0.000138	D	0.85474	0.5705	L	0.55481	1.735	0.80722	D	1	D;P	0.67145	0.996;0.887	D;P	0.64687	0.928;0.738	T	0.81169	-0.1055	10	0.36615	T	0.2	.	9.0078	0.36122	0.7334:0.0:0.2666:0.0	.	1097;779	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	1097;779	ENSP00000272895:H1097Q;ENSP00000374312:H779Q	ENSP00000272895:H1097Q	H	-	3	2	ABCA12	215570667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.573000	0.36472	0.144000	0.18951	-0.274000	0.10170	CAT		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		27	17	0	0	0	0.003954	0	27	17				
SCG2	7857	broad.mit.edu	37	2	224462881	224462881	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:224462881T>G	ENST00000305409.2	-	2	1352	c.1120A>C	c.(1120-1122)Aag>Cag	p.K374Q		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.K374Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCATTCGGCTTCTCCCCAGTT	0.453																																							uc002vnm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)AAG>CAG		secretogranin II precursor							74.0	72.0	73.0					2																	224462881		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462881T>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1120A>C	2.37:g.224462881T>G	ENSP00000304133:p.Lys374Gln						p.K374Q	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1253	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	374					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1120A>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.609043	0.46527	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01745	4.66	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000003	T	0.08758	0.0217	M	0.64997	1.995	0.46203	D	0.99892	D	0.89917	1.0	D	0.81914	0.995	T	0.12682	-1.0538	10	0.40728	T	0.16	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	374	P13521	SCG2_HUMAN	Q	374;234	ENSP00000304133:K374Q	ENSP00000304133:K374Q	K	-	1	0	SCG2	224171125	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	4.002000	0.57053	2.127000	0.65507	0.528000	0.53228	AAG		0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		42	39	0	0	0	0.006999	0	42	39				
USP40	55230	broad.mit.edu	37	2	234394527	234394527	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:234394527C>T	ENST00000427112.2	-	28	3326	c.3291G>A	c.(3289-3291)ggG>ggA	p.G1097G	USP40_ENST00000251722.6_Silent_p.G1097G|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Silent_p.G1109G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1097					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G1109G(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		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;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AGCCGGCAGTCCCACCCTGGG	0.592																																							uc010zmr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|breast(1)	3						c.(3325-3327)GGG>GGA		ubiquitin thioesterase 40							15.0	17.0	17.0					2																	234394527		1928	4136	6064	SO:0001819	synonymous_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394527C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3291G>A	2.37:g.234394527C>T						USP40_uc002vul.2_Silent_p.G93G|USP40_uc010zms.1_Silent_p.G207G	p.G1109G	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	28	3327	-		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;0.0539)	1097					Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	c.3327G>A	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	0.822	-0.748240	0.03065	.	.	ENSG00000085982	ENST00000454354	T	0.29655	1.56	5.75	0.656	0.17844	.	0.738721	0.14234	N	0.332557	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	7	0.49607	T	0.09	.	13.6033	0.62033	0.1606:0.1522:0.6872:0.0	.	.	.	.	E	65	ENSP00000394133:G65E	ENSP00000394133:G65E	G	-	2	0	USP40	234059266	1.000000	0.71417	0.026000	0.17262	0.009000	0.06853	0.567000	0.23608	-0.176000	0.10707	0.650000	0.86243	GGA		0.592	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	2	0	0	0	0.00308	0	8	2				
PRND	23627	broad.mit.edu	37	20	4705263	4705263	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr20:4705263T>C	ENST00000305817.2	+	2	137	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	22			S -> P. {ECO:0000269|PubMed:11702213}.		protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S22S(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCACCTCTCTGCGGTCCAGA	0.627																																							uc002wkz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)TCT>TCC		prion-like protein doppel preproprotein							62.0	56.0	58.0					20																	4705263		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705263T>C	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.66T>C	20.37:g.4705263T>C							p.S22S	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	137	+			22		S -> P.			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.66T>C	CCDS13081.1																																																																																				0.627	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		22	21	0	0	0	0.010504	0	22	21				
PPP1R3D	5509	broad.mit.edu	37	20	58514506	58514506	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr20:58514506G>A	ENST00000370996.3	-	1	846	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	161					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.P161S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGACGGGCGGCGGGAAATCG	0.677																																							uc002ybb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CCG>TCG		protein phosphatase 1, regulatory subunit 3D							15.0	17.0	16.0					20																	58514506		2162	4230	6392	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514506G>A	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.481C>T	20.37:g.58514506G>A	ENSP00000360035:p.Pro161Ser					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.P161S	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	847	-	all_lung(29;0.00391)		161					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.481C>T	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271687	0.80469	.	.	ENSG00000132825	ENST00000370996	T	0.55234	0.53	5.16	5.16	0.70880	.	0.088646	0.44902	D	0.000406	T	0.41834	0.1176	L	0.46157	1.445	0.51767	D	0.999937	P	0.35328	0.495	B	0.24394	0.053	T	0.40327	-0.9569	10	0.08599	T	0.76	-26.1352	18.6287	0.91350	0.0:0.0:1.0:0.0	.	161	O95685	PPR3D_HUMAN	S	161	ENSP00000360035:P161S	ENSP00000360035:P161S	P	-	1	0	PPP1R3D	57947901	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	9.182000	0.94881	2.397000	0.81536	0.462000	0.41574	CCG		0.677	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		3	11	0	0	0	0.004672	0	3	11				
TFIP11	24144	broad.mit.edu	37	22	26892780	26892780	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:26892780C>T	ENST00000407690.1	-	11	1795	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	TFIP11_ENST00000407431.1_Missense_Mutation_p.M504I|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Missense_Mutation_p.M504I|TFIP11_ENST00000405938.1_Missense_Mutation_p.M504I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	504					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)	p.M504I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AAAAGTCCACCATCGGGTCAC	0.478																																							uc003acr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)ATG>ATA		tuftelin interacting protein 11							140.0	126.0	131.0					22																	26892780		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26892780C>T	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.1512G>A	22.37:g.26892780C>T	ENSP00000384421:p.Met504Ile					TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.M504I|TFIP11_uc003act.2_Missense_Mutation_p.M504I	p.M504I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			10	1886	-			504					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1512G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935627	0.73442	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.23	5.23	0.72850	GC-rich sequence DNA-binding factor domain (1);	0.036441	0.85682	D	0.000000	T	0.62563	0.2438	M	0.65975	2.015	0.80722	D	1	D	0.58620	0.983	D	0.67548	0.952	T	0.60193	-0.7311	10	0.42905	T	0.14	-49.428	17.9478	0.89044	0.0:1.0:0.0:0.0	.	504	Q9UBB9	TFP11_HUMAN	I	504;504;504;189;504	ENSP00000384421:M504I;ENSP00000383892:M504I;ENSP00000385861:M504I;ENSP00000384297:M504I	ENSP00000384297:M504I	M	-	3	0	TFIP11	25222780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.976000	0.76135	2.720000	0.93068	0.561000	0.74099	ATG		0.478	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		11	80	0	0	0	0.010729	0	11	80				
NCAPH2	29781	broad.mit.edu	37	22	50961504	50961504	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:50961504C>T	ENST00000420993.2	+	19	1708	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.P529L|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P530L	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	529					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.P529L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TCACGGTTCCCCCAGCTCAAT	0.632																																							uc003blr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1585-1587)CCC>CTC		kleisin beta isoform 2							65.0	47.0	53.0					22																	50961504		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50961504C>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1586C>T	22.37:g.50961504C>T	ENSP00000410088:p.Pro529Leu					NCAPH2_uc003blv.2_Missense_Mutation_p.P529L|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P530L|NCAPH2_uc003bly.3_RNA	p.P529L	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	19	1708	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	529					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1586C>T	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869132	0.32977	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.79	3.78	0.43462	.	0.407683	0.25997	N	0.026970	T	0.48429	0.1499	L	0.40543	1.245	0.38581	D	0.950174	B;B;B	0.24317	0.082;0.082;0.101	B;B;B	0.28916	0.058;0.085;0.096	T	0.46289	-0.9202	9	0.28530	T	0.3	-7.8726	12.0735	0.53630	0.0:0.2951:0.7049:0.0	.	530;507;529	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	L	529;529;530	.	ENSP00000299821:P530L	P	+	2	0	NCAPH2	49308370	0.000000	0.05858	0.995000	0.50966	0.755000	0.42902	0.533000	0.23082	1.173000	0.42796	0.561000	0.74099	CCC		0.632	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		8	6	0	0	0	0.00308	0	8	6				
SETD2	29072	broad.mit.edu	37	3	47158225	47158225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr3:47158225G>A	ENST00000409792.3	-	4	4516	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1492					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R989*(2)|p.R1492*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATATCTCGATGAGATTTA	0.313			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		3	Substitution - Nonsense(3)	p.R989*(1)	lung(2)|kidney(1)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4474-4476)CGA>TGA		SET domain containing 2							83.0	80.0	81.0					3																	47158225		2203	4299	6502	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47158225G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4474C>T	3.37:g.47158225G>A	ENSP00000386759:p.Arg1492*					SETD2_uc003cqv.2_Nonsense_Mutation_p.R1481*	p.R1492*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	4	4527	-		Acute lymphoblastic leukemia(5;0.0169)	1492					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4474C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	45	11.408498	0.99557	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.93	5.04	0.67666	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9264	0.63966	0.0:0.0:0.7234:0.2766	.	.	.	.	X	1492	.	ENSP00000386759:R1492X	R	-	1	2	SETD2	47133229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.663000	0.61532	1.452000	0.47756	0.591000	0.81541	CGA		0.313	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		17	25	0	0	0	0.00499	0	17	25				
ARHGAP24	83478	broad.mit.edu	37	4	86491836	86491836	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:86491836C>T	ENST00000395184.1	+	2	608	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L48F|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.L48F(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGGATCAGCTCTATTATTT	0.473																																							uc003hpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CTC>TTC		Rho GTPase activating protein 24 isoform 1							100.0	88.0	92.0					4																	86491836		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86491836C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.142C>T	4.37:g.86491836C>T	ENSP00000378611:p.Leu48Phe					ARHGAP24_uc003hpi.1_Missense_Mutation_p.L48F|ARHGAP24_uc003hpj.2_Missense_Mutation_p.L48F	p.L48F	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	2	591	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	48			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.142C>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054587	0.93793	.	.	ENSG00000138639	ENST00000395184;ENST00000503995	T;T	0.41065	1.01;1.01	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.77838	-0.2439	10	0.87932	D	0	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	48;48;193	Q8N264;Q8N264-4;Q8N264-5	RHG24_HUMAN;.;.	F	48	ENSP00000378611:L48F;ENSP00000423206:L48F	ENSP00000378611:L48F	L	+	1	0	ARHGAP24	86710860	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.762000	0.85270	2.793000	0.96121	0.655000	0.94253	CTC		0.473	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		20	23	0	0	0	0.00278	0	20	23				
PPP3CA	5530	broad.mit.edu	37	4	101953470	101953470	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:101953470C>A	ENST00000394854.3	-	12	1976	c.1293G>T	c.(1291-1293)atG>atT	p.M431I	PPP3CA_ENST00000323055.6_Missense_Mutation_p.M389I|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M431I|PPP3CA_ENST00000507176.1_Missense_Mutation_p.M333I|PPP3CA_ENST00000512215.1_Missense_Mutation_p.M199I|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M364I	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	431					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.M431I(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CGCTGGGGAGCATGCCAGTTG	0.522																																							uc011cen.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1291-1293)ATG>ATT		protein phosphatase 3, catalytic subunit, alpha							97.0	72.0	80.0					4																	101953470		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101953470C>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1293G>T	4.37:g.101953470C>A	ENSP00000378323:p.Met431Ile					PPP3CA_uc003hvu.2_Missense_Mutation_p.M431I|PPP3CA_uc010ilj.2_Missense_Mutation_p.M389I|PPP3CA_uc003hvt.2_Missense_Mutation_p.M418I|PPP3CA_uc003hvs.2_Missense_Mutation_p.M364I|PPP3CA_uc010ilk.2_Missense_Mutation_p.M199I	p.M431I	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	12	1968	-			431					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1293G>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766377	0.69878	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	L	0.32530	0.975	0.80722	D	1	B;B;B;B;B;B	0.28971	0.133;0.229;0.035;0.012;0.011;0.038	B;B;B;B;B;B	0.30251	0.045;0.113;0.065;0.015;0.045;0.045	T	0.37103	-0.9720	10	0.30854	T	0.27	-19.4616	19.1841	0.93635	0.0:1.0:0.0:0.0	.	431;199;389;431;333;364	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	I	199;431;389;431;333;364	ENSP00000422781:M199I;ENSP00000378323:M431I;ENSP00000320580:M389I;ENSP00000378322:M431I;ENSP00000422990:M333I;ENSP00000429350:M364I	ENSP00000320580:M389I	M	-	3	0	PPP3CA	102172493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.538000	0.82048	2.537000	0.85549	0.655000	0.94253	ATG		0.522	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		9	12	1	0	0.000673444	0.008291	0.000726148	9	12				
ANK2	287	broad.mit.edu	37	4	114209548	114209548	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:114209548G>T	ENST00000357077.4	+	20	2236	c.2183G>T	c.(2182-2184)gGt>gTt	p.G728V	ANK2_ENST00000506722.1_Missense_Mutation_p.G707V|ANK2_ENST00000394537.3_Missense_Mutation_p.G728V|ANK2_ENST00000264366.6_Missense_Mutation_p.G728V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	728					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G728V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTACAGCTTGGTTACACACCT	0.358																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2182-2184)GGT>GTT		ankyrin 2 isoform 1							77.0	79.0	78.0					4																	114209548		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114209548G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2183G>T	4.37:g.114209548G>T	ENSP00000349588:p.Gly728Val					ANK2_uc003ibd.3_Missense_Mutation_p.G707V|ANK2_uc003ibf.3_Missense_Mutation_p.G728V|ANK2_uc003ibc.2_Missense_Mutation_p.G704V|ANK2_uc011cgb.1_Missense_Mutation_p.G743V	p.G728V	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	20	2283	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	728			ANK 22.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2183G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874351	0.72180	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.74106	1.91;1.91;1.91;1.91;-0.81;1.91;1.91	5.15	5.15	0.70609	Ankyrin repeat-containing domain (3);	0.000000	0.45867	U	0.000332	D	0.91284	0.7252	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.994	D	0.94252	0.7494	10	0.87932	D	0	.	18.6162	0.91303	0.0:0.0:1.0:0.0	.	728;728;728;707;707	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	707;674;707;743;728;728;728;707	ENSP00000423799:G707V;ENSP00000421011:G674V;ENSP00000421067:G707V;ENSP00000424722:G743V;ENSP00000378044:G728V;ENSP00000349588:G728V;ENSP00000264366:G728V	ENSP00000264366:G728V	G	+	2	0	ANK2	114428997	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.845000	0.99498	2.381000	0.81170	0.460000	0.39030	GGT		0.358	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		31	32	1	0	1.61788e-16	0.012213	1.98631e-16	31	32				
NPY1R	4886	broad.mit.edu	37	4	164247323	164247323	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:164247323A>C	ENST00000296533.2	-	2	915	c.384T>G	c.(382-384)atT>atG	p.I128M	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	128					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.I128M(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGAGAGAAAATGGACACAG	0.423																																							uc003iqm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(382-384)ATT>ATG		neuropeptide Y receptor Y1							141.0	124.0	130.0					4																	164247323		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247323A>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.384T>G	4.37:g.164247323A>C	ENSP00000354652:p.Ile128Met					NPY1R_uc011cjj.1_Intron	p.I128M	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	650	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	128			Helical; Name=3; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.384T>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.085906	0.55861	.	.	ENSG00000164128	ENST00000296533	T	0.76316	-1.01	5.84	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.059711	0.64402	D	0.000007	D	0.87289	0.6140	M	0.90870	3.155	0.80722	D	1	D	0.53745	0.962	D	0.64506	0.926	D	0.85797	0.1371	10	0.87932	D	0	.	7.0495	0.25065	0.5162:0.0:0.4838:0.0	.	128	P25929	NPY1R_HUMAN	M	128	ENSP00000354652:I128M	ENSP00000354652:I128M	I	-	3	3	NPY1R	164466773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.767000	0.26575	0.457000	0.26962	0.533000	0.62120	ATT		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			12	61	0	0	0	0.010729	0	12	61				
TRIM60	166655	broad.mit.edu	37	4	165962548	165962548	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:165962548G>T	ENST00000512596.1	+	3	1540	c.1324G>T	c.(1324-1326)Gat>Tat	p.D442Y	TRIM60_ENST00000341062.5_Missense_Mutation_p.D442Y|TRIM60_ENST00000508504.1_Missense_Mutation_p.D442Y	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D442Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TACTTTTAACGATTGTTTCAC	0.343																																							uc003iqy.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1324-1326)GAT>TAT		ring finger protein 129							64.0	70.0	68.0					4																	165962548		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962548G>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1324G>T	4.37:g.165962548G>T	ENSP00000421142:p.Asp442Tyr					TRIM60_uc010iqx.1_Missense_Mutation_p.D442Y	p.D442Y	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1494	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	442			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.1324G>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259056	0.39896	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.70986	-0.53;-0.53;-0.53	2.69	1.81	0.25067	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.818500	0.10001	U	0.728493	T	0.71921	0.3397	L	0.45352	1.415	0.09310	N	1	P	0.52316	0.952	P	0.56960	0.81	T	0.58289	-0.7662	10	0.46703	T	0.11	.	6.9904	0.24751	0.1535:0.0:0.8465:0.0	.	442	Q495X7	TRI60_HUMAN	Y	442	ENSP00000421142:D442Y;ENSP00000426496:D442Y;ENSP00000343765:D442Y	ENSP00000343765:D442Y	D	+	1	0	TRIM60	166181998	0.029000	0.19370	0.017000	0.16124	0.026000	0.11368	2.033000	0.41136	0.658000	0.30925	0.655000	0.94253	GAT		0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		33	29	1	0	5.60225e-13	0.009535	6.6796e-13	33	29				
PLEKHG4B	153478	broad.mit.edu	37	5	144977	144977	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:144977T>C	ENST00000283426.6	+	4	829	c.779T>C	c.(778-780)gTg>gCg	p.V260A	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	260							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V260A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTTGTCCTGGTGGATGCACGC	0.567																																							uc003jak.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(778-780)GTG>GCG		pleckstrin homology domain containing, family G							59.0	59.0	59.0					5																	144977		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:144977T>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.779T>C	5.37:g.144977T>C	ENSP00000283426:p.Val260Ala						p.V260A	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	4	829	+			260						Missense_Mutation	SNP	ENST00000283426.6	37	c.779T>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.700413	0.48307	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.31769	1.48;1.48	3.17	3.17	0.36434	.	.	.	.	.	T	0.49949	0.1587	M	0.81802	2.56	0.26122	N	0.980535	D	0.67145	0.996	P	0.58266	0.836	T	0.39722	-0.9600	9	0.87932	D	0	.	9.391	0.38372	0.0:0.0:0.0:1.0	.	260	Q96PX9	PKH4B_HUMAN	A	260;174	ENSP00000283426:V260A;ENSP00000422493:V174A	ENSP00000283426:V260A	V	+	2	0	PLEKHG4B	197977	1.000000	0.71417	0.991000	0.47740	0.036000	0.12997	5.040000	0.64191	1.085000	0.41206	0.260000	0.18958	GTG		0.567	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		16	36	0	0	0	0.004007	0	16	36				
SPEF2	79925	broad.mit.edu	37	5	35670182	35670182	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:35670182G>T	ENST00000356031.3	+	10	1531	c.1377G>T	c.(1375-1377)atG>atT	p.M459I	SPEF2_ENST00000509059.1_Missense_Mutation_p.M459I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M459I|SPEF2_ENST00000440995.2_Missense_Mutation_p.M459I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	459					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.M459I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAGTTGATGCATGATTGGA	0.323																																							uc003jjo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1375-1377)ATG>ATT		KPL2 protein isoform 1							130.0	136.0	134.0					5																	35670182		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35670182G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1377G>T	5.37:g.35670182G>T	ENSP00000348314:p.Met459Ile					SPEF2_uc003jjn.1_Missense_Mutation_p.M459I|SPEF2_uc003jjq.3_Missense_Mutation_p.M459I	p.M459I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1488	+	all_lung(31;7.56e-05)		459					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1377G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996017	0.54147	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.16457	2.34;3.37;2.34;3.37	5.1	5.1	0.69264	.	0.087583	0.85682	D	0.000000	T	0.39759	0.1090	M	0.65320	2	0.80722	D	1	D;D;D	0.67145	0.969;0.993;0.996	D;D;D	0.75484	0.914;0.968;0.986	T	0.11767	-1.0574	10	0.59425	D	0.04	.	15.9652	0.79966	0.0:0.1348:0.8652:0.0	.	459;459;459	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	I	459	ENSP00000282469:M459I;ENSP00000348314:M459I;ENSP00000421593:M459I;ENSP00000412125:M459I	ENSP00000282469:M459I	M	+	3	0	SPEF2	35705939	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	4.300000	0.59079	2.515000	0.84797	0.655000	0.94253	ATG		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		25	64	1	0	6.36457e-07	0.003954	7.10998e-07	25	64				
FBXL17	64839	broad.mit.edu	37	5	107700656	107700656	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:107700656T>C	ENST00000542267.1	-	3	1563	c.1157A>G	c.(1156-1158)cAg>cGg	p.Q386R	FBXL17_ENST00000359660.5_5'UTR|FBXL17_ENST00000496714.1_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	386								p.Q386R(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AATTATATTCTGACTTCTTGA	0.308																																							uc011cvc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)CAG>CGG		F-box and leucine-rich repeat protein 17							63.0	64.0	64.0					5																	107700656		2202	4298	6500	SO:0001583	missense	64839							g.chr5:107700656T>C	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1157A>G	5.37:g.107700656T>C	ENSP00000437464:p.Gln386Arg					FBXL17_uc003kon.3_5'UTR	p.Q386R	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	3	1564	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	386					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1157A>G	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593748	0.66219	.	.	ENSG00000145743	ENST00000542267	T	0.02395	4.31	5.59	4.41	0.53225	.	.	.	.	.	T	0.03564	0.0102	N	0.25890	0.77	0.58432	D	0.999991	P	0.52842	0.956	P	0.47299	0.543	T	0.62987	-0.6737	9	0.18710	T	0.47	.	13.0781	0.59099	0.0:0.0:0.1343:0.8657	.	386	Q9UF56	FXL17_HUMAN	R	386	ENSP00000437464:Q386R	ENSP00000437464:Q386R	Q	-	2	0	FBXL17	107728555	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.880000	0.69698	1.037000	0.40024	0.477000	0.44152	CAG		0.308	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	28	0	0	0	0.007413	0	18	28				
ZRSR1	7310	broad.mit.edu	37	5	112228539	112228539	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:112228539G>A	ENST00000391338.1	+	1	1227	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	REEP5_ENST00000474542.2_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000545426.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	401						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						GGGAATCCGAGAGAAAAAAGA	0.512																																							uc011cvv.1		NA																	0					0						c.(1276-1278)GAG>GAA		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001819	synonymous_variant	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112228539G>A	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.1203G>A	5.37:g.112228539G>A						SRP19_uc011cvu.1_Silent_p.E411E|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.E426E			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	1533	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37	c.1278G>A																																																																																					0.512	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		6	11	0	0	0	0.001168	0	6	11				
PGBD1	84547	broad.mit.edu	37	6	28253402	28253402	+	Missense_Mutation	SNP	G	G	T	rs563395321		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:28253402G>T	ENST00000405948.2	+	3	891	c.471G>T	c.(469-471)caG>caT	p.Q157H	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q157H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	157						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q157H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGTGTCAGAGCCTCCAGC	0.502																																							uc003nky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(469-471)CAG>CAT		piggyBac transposable element derived 1							96.0	92.0	93.0					6																	28253402		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28253402G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.471G>T	6.37:g.28253402G>T	ENSP00000385213:p.Gln157His					PGBD1_uc003nkz.2_Missense_Mutation_p.Q157H	p.Q157H	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			3	841	+			157					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.471G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	3.044	-0.196790	0.06259	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01455	4.87;4.87	5.02	2.23	0.28157	.	.	.	.	.	T	0.01353	0.0044	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.55244	-0.8171	9	0.34782	T	0.22	-21.7422	9.3426	0.38089	0.2497:0.0:0.7503:0.0	.	157	Q96JS3	PGBD1_HUMAN	H	157	ENSP00000385213:Q157H;ENSP00000259883:Q157H	ENSP00000259883:Q157H	Q	+	3	2	PGBD1	28361381	0.034000	0.19679	0.015000	0.15790	0.002000	0.02628	1.437000	0.34991	0.644000	0.30656	-0.225000	0.12378	CAG		0.502	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			18	24	1	0	2.4624e-09	0.008871	2.8272e-09	18	24				
UHRF1BP1	54887	broad.mit.edu	37	6	34802533	34802533	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:34802533C>T	ENST00000192788.5	+	6	735	c.564C>T	c.(562-564)ctC>ctT	p.L188L	UHRF1BP1_ENST00000452449.2_Silent_p.L188L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	188							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L188L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCAAACACTCCGAATTGAGG	0.423																																							uc003oju.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(562-564)CTC>CTT		ICBP90 binding protein 1							140.0	138.0	139.0					6																	34802533		1914	4129	6043	SO:0001819	synonymous_variant	54887							g.chr6:34802533C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.564C>T	6.37:g.34802533C>T						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.L188L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			6	798	+			188					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.564C>T	CCDS43455.1																																																																																				0.423	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		49	60	0	0	0	0.01441	0	49	60				
TCTE1	202500	broad.mit.edu	37	6	44250206	44250206	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:44250206C>G	ENST00000371505.4	-	4	1059	c.937G>C	c.(937-939)Gac>Cac	p.D313H	TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	313								p.D313H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTGACAAGTCCAGCTCCTCG	0.567																																							uc003oxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(937-939)GAC>CAC		t-complex-associated testis expressed 1							111.0	100.0	104.0					6																	44250206		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250206C>G	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.937G>C	6.37:g.44250206C>G	ENSP00000360560:p.Asp313His					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.D313H	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1093	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		313			LRR 1.		B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.937G>C	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557265	0.86231	.	.	ENSG00000146221	ENST00000371505	T	0.58797	0.31	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75988	-0.3123	10	0.62326	D	0.03	-59.7148	19.4913	0.95050	0.0:1.0:0.0:0.0	.	313	Q5JU00	TCTE1_HUMAN	H	313	ENSP00000360560:D313H	ENSP00000360560:D313H	D	-	1	0	TCTE1	44358184	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.734000	0.55037	2.695000	0.91970	0.455000	0.32223	GAC		0.567	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		22	17	0	0	0	0.012319	0	22	17				
CEP162	22832	broad.mit.edu	37	6	84862734	84862734	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:84862734T>A	ENST00000403245.3	-	23	3273	c.3159A>T	c.(3157-3159)aaA>aaT	p.K1053N	KIAA1009_ENST00000257766.4_Missense_Mutation_p.K977N|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.K1053N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTCTGATGTTTAAGAACGT	0.383																																							uc010kbp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3157-3159)AAA>AAT		KIAA1009 protein							117.0	108.0	111.0					6																	84862734		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84862734T>A																												ENST00000403245.3:c.3159A>T	6.37:g.84862734T>A	ENSP00000385215:p.Lys1053Asn					KIAA1009_uc003pkj.3_Missense_Mutation_p.K977N|KIAA1009_uc003pki.3_Missense_Mutation_p.K439N	p.K1053N	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	23	3256	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1053			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.3159A>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416620	0.42918	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.21932	1.98;1.98	4.86	2.43	0.29744	.	0.000000	0.64402	D	0.000003	T	0.28366	0.0701	M	0.77616	2.38	0.28583	N	0.910032	D	0.89917	1.0	D	0.85130	0.997	T	0.08638	-1.0712	10	0.62326	D	0.03	-26.2526	8.3989	0.32574	0.0:0.3343:0.0:0.6657	.	1053	Q5TB80	QN1_HUMAN	N	977;1053	ENSP00000257766:K977N;ENSP00000385215:K1053N	ENSP00000257766:K977N	K	-	3	2	KIAA1009	84919453	1.000000	0.71417	0.959000	0.39883	0.573000	0.36030	1.121000	0.31283	0.291000	0.22468	-0.621000	0.04028	AAA		0.383	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			15	18	0	0	0	0.004007	0	15	18				
PLG	5340	broad.mit.edu	37	6	161162365	161162365	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:161162365G>T	ENST00000308192.9	+	17	2104	c.2041G>T	c.(2041-2043)Gta>Tta	p.V681L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	681	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V681L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACTGACAAAGTAATCCCAGC	0.493																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2041-2043)GTA>TTA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						105.0	91.0	96.0					6																	161162365		2203	4298	6501	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161162365G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2041G>T	6.37:g.161162365G>T	ENSP00000308938:p.Val681Leu						p.V681L	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	17	2104	+			681			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2041G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691255	0.48097	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.91792	-2.91	3.73	2.85	0.33270	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35436	U	0.003204	D	0.90191	0.6934	M	0.67397	2.05	0.48762	D	0.999702	D	0.54772	0.968	P	0.53760	0.734	D	0.89459	0.3735	10	0.87932	D	0	.	8.7718	0.34737	0.1115:0.0:0.8885:0.0	.	681	P00747	PLMN_HUMAN	L	681;81	ENSP00000308938:V681L	ENSP00000308938:V681L	V	+	1	0	PLG	161082355	1.000000	0.71417	0.173000	0.22940	0.495000	0.33615	3.297000	0.51810	0.541000	0.28827	0.454000	0.30748	GTA		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		26	18	1	0	7.01153e-11	0.007291	8.12552e-11	26	18				
MYL10	93408	broad.mit.edu	37	7	101266291	101266291	+	Missense_Mutation	SNP	G	G	T	rs144539367		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:101266291G>T	ENST00000223167.4	-	4	512	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	112	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.T112N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGCGGCAAAGGTGTCCCTCAA	0.627																																					Esophageal Squamous(24;575 709 17516 40384 51639)	Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(334-336)ACC>AAC		myosin, light chain 10, regulatory							119.0	81.0	94.0					7																	101266291		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101266291G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.335C>A	7.37:g.101266291G>T	ENSP00000223167:p.Thr112Asn						p.T112N	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			4	513	-			112			EF-hand 1.			Missense_Mutation	SNP	ENST00000223167.4	37	c.335C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081397	0.36758	.	.	ENSG00000106436	ENST00000223167	T	0.71461	-0.57	4.88	4.0	0.46444	EF-hand-like domain (1);	0.237446	0.32868	N	0.005543	D	0.86723	0.6001	M	0.93507	3.425	0.46149	D	0.998894	P	0.48230	0.907	D	0.67900	0.954	D	0.89072	0.3470	10	0.87932	D	0	.	12.1786	0.54199	0.0847:0.0:0.9153:0.0	.	112	Q9BUA6	MYL10_HUMAN	N	112	ENSP00000223167:T112N	ENSP00000223167:T112N	T	-	2	0	MYL10	101053011	1.000000	0.71417	0.930000	0.37139	0.016000	0.09150	7.351000	0.79395	1.186000	0.42985	-0.136000	0.14681	ACC		0.627	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		12	21	1	0	7.93312e-07	0.00245	8.7831e-07	12	21				
FEZF1	389549	broad.mit.edu	37	7	121942893	121942893	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:121942893C>T	ENST00000442488.2	-	3	1096	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.P339P|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.P293P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	343					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.P339P(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACACACAAACGGTTTGTAGC	0.393																																							uc003vkd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1027-1029)CCG>CCA		FEZ family zinc finger 1 isoform 1							124.0	120.0	121.0					7																	121942893		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942893C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1029G>A	7.37:g.121942893C>T						FEZF1_uc003vkc.2_Silent_p.P293P|uc010lko.1_5'Flank	p.P343P	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			3	1103	-			343					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1029G>A	CCDS34741.2																																																																																				0.393	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		51	129	0	0	0	0.01441	0	51	129				
KIAA1549	57670	broad.mit.edu	37	7	138554409	138554409	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:138554409T>C	ENST00000422774.1	-	14	4698	c.4650A>G	c.(4648-4650)gtA>gtG	p.V1550V	KIAA1549_ENST00000242365.4_Silent_p.V1500V|KIAA1549_ENST00000440172.1_Silent_p.V1550V			Q9HCM3	K1549_HUMAN	KIAA1549	1550						integral component of membrane (GO:0016021)		p.V1500V(1)|p.V1550V(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGGTCGTCTACCACCGGGA	0.642			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(4648-4650)GTA>GTG		hypothetical protein LOC57670 isoform 1							39.0	49.0	46.0					7																	138554409		2063	4198	6261	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138554409T>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4650A>G	7.37:g.138554409T>C						KIAA1549_uc011kqi.1_Silent_p.V334V|KIAA1549_uc003vuk.3_Silent_p.V1500V|KIAA1549_uc011kqj.1_Silent_p.V1550V|KIAA1549_uc011kqk.1_Silent_p.V334V	p.V1550V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			14	4699	-			1550					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.4650A>G	CCDS56513.1																																																																																				0.642	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			5	22	0	0	0	0.00308	0	5	22				
TRPV5	56302	broad.mit.edu	37	7	142605736	142605736	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:142605736A>G	ENST00000265310.1	-	15	2482	c.2134T>C	c.(2134-2136)Ttg>Ctg	p.L712L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	712	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.		L -> F (in dbSNP:rs4252509). {ECO:0000269|Ref.4}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L712L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCAAGATTCAAGTGCCCCAGG	0.552																																							uc003wby.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2134-2136)TTG>CTG		transient receptor potential cation channel,							114.0	108.0	110.0					7																	142605736		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605736A>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2134T>C	7.37:g.142605736A>G							p.L712L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2398	-	Melanoma(164;0.059)		712			Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.2134T>C	CCDS5875.1																																																																																				0.552	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		27	46	0	0	0	0.008361	0	27	46				
PTK2B	2185	broad.mit.edu	37	8	27255117	27255117	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:27255117G>A	ENST00000397501.1	+	7	824	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PTK2B_ENST00000544172.1_Missense_Mutation_p.E6K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E6K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E6K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E6K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E6K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	6					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.E6K(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TGGGGTGTCCGAGCCCCTGAG	0.607																																							uc003xfn.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|skin(1)	5						c.(16-18)GAG>AAG		PTK2B protein tyrosine kinase 2 beta isoform a							114.0	100.0	105.0					8																	27255117		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27255117G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.16G>A	8.37:g.27255117G>A	ENSP00000380638:p.Glu6Lys					PTK2B_uc003xfo.1_Missense_Mutation_p.E6K|PTK2B_uc003xfp.1_Missense_Mutation_p.E6K|PTK2B_uc003xfq.1_Missense_Mutation_p.E6K	p.E6K	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	7	824	+		Ovarian(32;2.72e-05)	6					D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.16G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066452	0.55539	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000522338;ENST00000521164;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T	0.75154	-0.91;-0.87;-0.91;-0.91;-0.87;-0.87	4.79	2.98	0.34508	.	0.120722	0.56097	D	0.000030	T	0.54838	0.1883	N	0.22421	0.69	0.31799	N	0.628614	B;B	0.21452	0.002;0.056	B;B	0.16289	0.001;0.015	T	0.55623	-0.8112	10	0.87932	D	0	.	3.4652	0.07548	0.0922:0.1701:0.562:0.1757	.	6;6	Q14289-2;Q14289	.;FAK2_HUMAN	K	6;11;6;6;6;6;6;6;6;6;6	ENSP00000380638:E6K;ENSP00000342242:E6K;ENSP00000440926:E6K;ENSP00000332816:E6K;ENSP00000391995:E6K;ENSP00000427931:E6K	ENSP00000342242:E6K	E	+	1	0	PTK2B	27311034	0.995000	0.38212	0.982000	0.44146	0.973000	0.67179	2.563000	0.45922	0.616000	0.30141	0.655000	0.94253	GAG		0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		10	42	0	0	0	0.00278	0	10	42				
PURG	29942	broad.mit.edu	37	8	30890170	30890170	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:30890170C>T	ENST00000475541.1	-	1	1061	c.129G>A	c.(127-129)gcG>gcA	p.A43A	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.A43A	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	43						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A43A(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGGCTGAGGCCGCGTAGTGGG	0.627																																							uc003xin.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(127-129)GCG>GCA		purine-rich element binding protein G isoform A							21.0	23.0	22.0					8																	30890170		2202	4299	6501	SO:0001819	synonymous_variant	29942					nucleus	DNA binding	g.chr8:30890170C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.129G>A	8.37:g.30890170C>T						WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.A43A	p.A43A	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	148	-			43					Q8TE64	Silent	SNP	ENST00000475541.1	37	c.129G>A	CCDS6081.1																																																																																				0.627	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		6	16	0	0	0	0.001168	0	6	16				
RBM12B	389677	broad.mit.edu	37	8	94747222	94747222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:94747222T>A	ENST00000399300.2	-	3	1630	c.1417A>T	c.(1417-1419)Aga>Tga	p.R473*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.R473*|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	473	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R473*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GATATAAGTCTTAATAACACC	0.418																																							uc003yfz.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1417-1419)AGA>TGA		RNA binding motif protein 12B							144.0	140.0	141.0					8																	94747222		1854	4094	5948	SO:0001587	stop_gained	389677						nucleotide binding|RNA binding	g.chr8:94747222T>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1417A>T	8.37:g.94747222T>A	ENSP00000382239:p.Arg473*						p.R473*	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1610	-	Breast(36;4.14e-07)		473			RRM 3.		A8MYB5	Nonsense_Mutation	SNP	ENST00000399300.2	37	c.1417A>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	38	6.824662	0.97865	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8501	15.3887	0.74726	0.0:0.0:0.0:1.0	.	.	.	.	X	473	.	ENSP00000382239:R473X	R	-	1	2	RBM12B	94816398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.431000	0.80335	2.089000	0.63090	0.482000	0.46254	AGA		0.418	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		96	175	0	0	0	0.01441	0	96	175				
ESRP1	54845	broad.mit.edu	37	8	95680478	95680478	+	Splice_Site	SNP	G	G	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:95680478G>C	ENST00000433389.2	+	10	1423	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	ESRP1_ENST00000358397.5_Splice_Site_p.Q411H|ESRP1_ENST00000454170.2_Splice_Site_p.Q411H|ESRP1_ENST00000423620.2_Splice_Site_p.Q411H	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	411					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.Q411H(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGTTCAGCAGGTTGGTTTTA	0.368																																							uc003ygq.3		NA																ESRP1/RAF1(4)	2	Substitution - Missense(2)		lung(2)	prostate(4)	4						c.(1231-1233)CAG>CAC		RNA binding motif protein 35A isoform 1							47.0	48.0	47.0					8																	95680478		1943	4157	6100	SO:0001630	splice_region_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680478G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1233+1G>C	8.37:g.95680478G>C						ESRP1_uc003ygr.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygs.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygt.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygu.3_Missense_Mutation_p.Q411H|ESRP1_uc003ygv.2_Missense_Mutation_p.Q251H|ESRP1_uc003ygw.2_Missense_Mutation_p.Q251H	p.Q411H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			10	1416	+			411					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1233G>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.595931|4.595931	0.86953|0.86953	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.30448	.|1.53;2.57;2.58;3.34;2.41	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54983|0.54983	0.1892|0.1892	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.999;0.999;0.998;0.999;0.999	T|T	0.58951|0.58951	-0.7545|-0.7545	5|10	.|0.87932	.|D	.|0	-10.7871|-10.7871	18.4096|18.4096	0.90546|0.90546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|411;411;411;411;411;411	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	R|H	277|411;411;411;411;270	.|ENSP00000407349:Q411H;ENSP00000405738:Q411H;ENSP00000351168:Q411H;ENSP00000402766:Q411H;ENSP00000429125:Q270H	.|ENSP00000351168:Q411H	G|Q	+|+	1|3	0|2	ESRP1|ESRP1	95749654|95749654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	6.629000|6.629000	0.74267|0.74267	2.425000|2.425000	0.82216|0.82216	0.563000|0.563000	0.77884|0.77884	GGT|CAG		0.368	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	Missense_Mutation	16	28	0	0	0	0.003163	0	16	28				
CSMD3	114788	broad.mit.edu	37	8	113347698	113347699	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:113347698_113347699CC>AT	ENST00000297405.5	-	45	7268_7269	c.7024_7025GG>AT	c.(7024-7026)GGa>ATa	p.G2342I	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272I|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302I|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2342	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2302I(1)|p.G2342I(1)		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						TTGGTCTGGTCCATCCCTATGA	0.371										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(7024-7026)GGA>ATA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347698_113347699CC>AT	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.7024_7025delinsAT	8.37:g.113347698_113347699delinsAT	ENSP00000297405:p.Gly2342Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1544I|CSMD3_uc003ynt.2_Missense_Mutation_p.G2302I|CSMD3_uc011lhx.1_Missense_Mutation_p.G2238I|CSMD3_uc003ynw.1_Missense_Mutation_p.G53I	p.G2342I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7183_7184	-			2342			Extracellular (Potential).|CUB 13.		Q96PZ3	Missense_Mutation	DNP	ENST00000297405.5	37	c.7024_7025GG>AT	CCDS6315.1																																																																																				0.371	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	18	0	0	0	0.004672	0	15	18				
ZHX2	22882	broad.mit.edu	37	8	123964400	123964400	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:123964400G>T	ENST00000314393.4	+	3	1485	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	217	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R217L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGACCGCCCGCCTGGTGACA	0.592																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)CGC>CTC		zinc fingers and homeoboxes 2							112.0	119.0	116.0					8																	123964400		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964400G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.650G>T	8.37:g.123964400G>T	ENSP00000314709:p.Arg217Leu						p.R217L	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1217	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		217			Required for homodimerization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.650G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817115	0.50633	.	.	ENSG00000178764	ENST00000314393	T	0.18338	2.22	5.63	4.75	0.60458	.	0.385180	0.29185	N	0.012894	T	0.11324	0.0276	N	0.19112	0.55	0.39519	D	0.968489	P	0.46656	0.882	B	0.38296	0.27	T	0.12863	-1.0531	10	0.35671	T	0.21	-14.79	13.8394	0.63430	0.0737:0.0:0.9263:0.0	.	217	Q9Y6X8	ZHX2_HUMAN	L	217	ENSP00000314709:R217L	ENSP00000314709:R217L	R	+	2	0	ZHX2	124033581	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.614000	0.24314	1.513000	0.48852	0.555000	0.69702	CGC		0.592	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		26	73	1	0	1.50538e-07	0.00632	1.69697e-07	26	73				
GSDMC	56169	broad.mit.edu	37	8	130764122	130764122	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:130764122T>C	ENST00000276708.4	-	9	1783	c.902A>G	c.(901-903)cAc>cGc	p.H301R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	301						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.H301R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGGAGGATGTGAACTTGTTC	0.498																																							uc003ysr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(901-903)CAC>CGC		melanoma-derived leucine zipper, extra-nuclear							147.0	157.0	153.0					8																	130764122		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130764122T>C	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.902A>G	8.37:g.130764122T>C	ENSP00000276708:p.His301Arg						p.H301R	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			9	1784	-			301					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.902A>G	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	0.164	-1.078562	0.01903	.	.	ENSG00000147697	ENST00000276708	T	0.21734	1.99	3.24	-6.49	0.01890	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	9	0.23891	T	0.37	.	0.3501	0.00348	0.2164:0.1987:0.2643:0.3206	.	301	Q9BYG8	GSDMC_HUMAN	R	301	ENSP00000276708:H301R	ENSP00000276708:H301R	H	-	2	0	GSDMC	130833304	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.599000	0.00893	-3.264000	0.00201	-1.983000	0.00453	CAC		0.498	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			90	221	0	0	0	0.01441	0	90	221				
SMARCA2	6595	broad.mit.edu	37	9	2056747	2056747	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:2056747C>T	ENST00000382203.1	+	7	1458	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R417W|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R417W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R417W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	417					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R417W(1)|p.R413W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGCATACAAACGGAGCAAGCG	0.557																																							uc003zhc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1249-1251)CGG>TGG		SWI/SNF-related matrix-associated							74.0	71.0	72.0					9																	2056747		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2056747C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1249C>T	9.37:g.2056747C>T	ENSP00000371638:p.Arg417Trp					SMARCA2_uc003zhd.2_Missense_Mutation_p.R417W|SMARCA2_uc010mha.2_Missense_Mutation_p.R408W	p.R417W	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	7	1348	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	417					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1249C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796702	0.90453	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.96	4.05	0.47172	.	0.000000	0.64402	D	0.000001	T	0.72463	0.3463	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.982	T	0.80890	-0.1180	10	0.87932	D	0	-25.8488	14.6194	0.68574	0.147:0.853:0.0:0.0	.	18;417;417	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	W	417	ENSP00000265773:R417W;ENSP00000349788:R417W;ENSP00000392081:R417W;ENSP00000371638:R417W;ENSP00000371629:R417W	ENSP00000265773:R417W	R	+	1	2	SMARCA2	2046747	0.983000	0.35010	0.962000	0.40283	0.994000	0.84299	2.646000	0.46630	1.057000	0.40506	-0.182000	0.12963	CGG		0.557	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		11	12	0	0	0	0.008291	0	11	12				
FREM1	158326	broad.mit.edu	37	9	14848694	14848694	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:14848694A>G	ENST00000380880.3	-	7	2013	c.1230T>C	c.(1228-1230)gaT>gaC	p.D410D	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Silent_p.D411D|FREM1_ENST00000422223.2_Silent_p.D410D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	410					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D411D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGCATTTGTATCTGCTGTTC	0.443																																							uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1228-1230)GAT>GAC		FRAS1 related extracellular matrix 1 precursor							141.0	127.0	131.0					9																	14848694		1917	4140	6057	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848694A>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1230T>C	9.37:g.14848694A>G						FREM1_uc010mic.2_RNA	p.D410D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	1820	-			410			CSPG 2.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1230T>C	CCDS47952.1																																																																																				0.443	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		32	31	0	0	0	0.013726	0	32	31				
CNTLN	54875	broad.mit.edu	37	9	17415873	17415873	+	Missense_Mutation	SNP	A	A	T	rs200826065		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:17415873A>T	ENST00000380647.3	+	17	2968	c.2884A>T	c.(2884-2886)Act>Tct	p.T962S	CNTLN_ENST00000262360.5_Missense_Mutation_p.T962S|CNTLN_ENST00000425824.1_Missense_Mutation_p.T962S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	962					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T962S(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCAGTTCCTACTAGAGGTAA	0.269																																							uc003zmz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2881-2883)ACT>TCT		centlein isoform 1							55.0	55.0	55.0					9																	17415873		1810	4058	5868	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17415873A>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2884A>T	9.37:g.17415873A>T	ENSP00000370021:p.Thr962Ser					CNTLN_uc003zmy.2_Missense_Mutation_p.T962S|CNTLN_uc010mio.2_Missense_Mutation_p.T641S	p.T961S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	17	2907	+			962					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2881A>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	1.324	-0.598682	0.03744	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.17528	2.27;2.27;2.53	4.15	1.79	0.24919	.	.	.	.	.	T	0.11024	0.0269	L	0.41236	1.265	0.09310	N	1	B;B;B	0.24426	0.014;0.103;0.103	B;B;B	0.22386	0.008;0.039;0.027	T	0.37842	-0.9688	9	0.18276	T	0.48	.	2.6103	0.04889	0.5738:0.0:0.2281:0.198	.	962;962;962	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	S	962	ENSP00000370021:T962S;ENSP00000392798:T962S;ENSP00000262360:T962S	ENSP00000262360:T962S	T	+	1	0	CNTLN	17405873	0.003000	0.15002	0.958000	0.39756	0.365000	0.29674	1.030000	0.30153	0.266000	0.21894	0.460000	0.39030	ACT		0.269	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		24	24	0	0	0	0.003954	0	24	24				
GABBR2	9568	broad.mit.edu	37	9	101068494	101068494	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:101068494G>A	ENST00000259455.2	-	15	2597	c.2138C>T	c.(2137-2139)aCc>aTc	p.T713I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	713					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.T713I(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGGTCCCGGGTCAGGAAGGA	0.577																																							uc004ays.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2137-2139)ACC>ATC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						134.0	93.0	107.0					9																	101068494		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101068494G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2138C>T	9.37:g.101068494G>A	ENSP00000259455:p.Thr713Ile						p.T713I	NM_005458	NP_005449	O75899	GABR2_HUMAN			15	2294	-		Acute lymphoblastic leukemia(62;0.0527)	713			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.2138C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595728	0.66219	.	.	ENSG00000136928	ENST00000259455	D	0.89343	-2.5	4.91	4.91	0.64330	GPCR, family 3, C-terminal (2);	0.098228	0.64402	D	0.000001	D	0.84651	0.5519	N	0.02129	-0.67	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.85104	0.0959	10	0.21014	T	0.42	-28.9053	15.6037	0.76646	0.0:0.0:1.0:0.0	.	713	O75899	GABR2_HUMAN	I	713	ENSP00000259455:T713I	ENSP00000259455:T713I	T	-	2	0	GABBR2	100108315	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.641000	0.98458	2.280000	0.76307	0.561000	0.74099	ACC		0.577	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			8	9	0	0	0	0.00308	0	8	9				
MXRA5	25878	broad.mit.edu	37	X	3239235	3239235	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:3239235G>A	ENST00000217939.6	-	5	4645	c.4491C>T	c.(4489-4491)tcC>tcT	p.S1497S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1497						extracellular vesicular exosome (GO:0070062)		p.S1497S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGAATTGTGGATGGGGACG	0.473																																							uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4489-4491)TCC>TCT		adlican precursor							134.0	116.0	122.0					X																	3239235		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3239235G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4491C>T	X.37:g.3239235G>A							p.S1497S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4648	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1497					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.4491C>T	CCDS14124.1																																																																																				0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		49	32	0	0	0	0.01441	0	49	32				
DMD	1756	broad.mit.edu	37	X	32613910	32613910	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:32613910T>C	ENST00000357033.4	-	13	1772	c.1566A>G	c.(1564-1566)ggA>ggG	p.G522G	DMD_ENST00000288447.4_Silent_p.G514G|DMD_ENST00000378677.2_Silent_p.G518G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	522			Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G522G(1)|p.G517G(1)|p.G518G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCGTGATCTCCACTAGATT	0.353																																							uc004dda.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1564-1566)GGA>GGG		dystrophin Dp427m isoform							159.0	128.0	138.0					X																	32613910		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32613910T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1566A>G	X.37:g.32613910T>C						DMD_uc004dcz.2_Silent_p.G399G|DMD_uc004dcy.1_Silent_p.G518G|DMD_uc004ddb.1_Silent_p.G514G|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.G514G|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	p.G522G	NM_004006	NP_003997	P11532	DMD_HUMAN			13	1810	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	522		Missing (in BMD).	Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.1566A>G	CCDS14233.1																																																																																				0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		21	16	0	0	0	0.012319	0	21	16				
SEPT6	23157	broad.mit.edu	37	X	118771105	118771105	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:118771105C>A	ENST00000343984.5	-	7	1105	c.841G>T	c.(841-843)Gtc>Ttc	p.V281F	SEPT6_ENST00000394616.4_Missense_Mutation_p.V223F|SEPT6_ENST00000360156.7_Missense_Mutation_p.V281F|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281F|SEPT6_ENST00000394617.2_Missense_Mutation_p.V311F|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281F|SEPT6_ENST00000394610.1_Missense_Mutation_p.V281F|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281F	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	281	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)	p.V281F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TCCATGTTGACCCGAATCAGC	0.547			T	MLL	AML																																		uc004erv.2		NA		Dom	yes		X	Xq24	23157		septin 6			L					1	Substitution - Missense(1)		lung(1)	lung(1)|ovary(1)|prostate(1)|kidney(1)	4						c.(841-843)GTC>TTC		septin 6 isoform B							118.0	92.0	101.0					X																	118771105		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771105C>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.841G>T	X.37:g.118771105C>A	ENSP00000341524:p.Val281Phe					SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.V281F|SEPT6_uc004ert.2_Missense_Mutation_p.V281F|SEPT6_uc004eru.2_Missense_Mutation_p.V281F|SEPT6_uc004erw.2_Missense_Mutation_p.V223F|SEPT6_uc011mtv.1_Missense_Mutation_p.V223F|SEPT6_uc011mtw.1_Missense_Mutation_p.V311F	p.V281F	NM_015129	NP_055944	Q14141	SEPT6_HUMAN			7	1106	-			281					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.841G>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164033	0.78339	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.29	2.49	0.30216	.	0.117118	0.56097	N	0.000023	D	0.89114	0.6623	M	0.81942	2.565	0.58432	D	0.999999	P;D;D;D	0.89917	0.891;0.958;1.0;0.957	P;D;D;P	0.91635	0.667;0.93;0.999;0.885	D	0.86458	0.1777	10	0.87932	D	0	.	6.9691	0.24639	0.1399:0.7047:0.0:0.1553	.	311;223;281;281	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	F	281;281;281;281;281;281;223;311	ENSP00000353278:V281F;ENSP00000346169:V281F;ENSP00000418715:V281F;ENSP00000346397:V281F;ENSP00000378108:V281F;ENSP00000341524:V281F;ENSP00000378114:V223F;ENSP00000378115:V311F	ENSP00000341524:V281F	V	-	1	0	SEPT6	118655133	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	4.685000	0.61693	0.086000	0.17137	0.594000	0.82650	GTC		0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		11	19	1	0	6.31663e-08	0.003163	7.18589e-08	11	19				
XPNPEP2	7512	broad.mit.edu	37	X	128877985	128877985	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:128877985C>T	ENST00000371106.3	+	3	364	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R58C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	58						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R58C(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CACAGCCCTCCGCCAGCAGAT	0.498																																							uc004eut.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(172-174)CGC>TGC		X-prolyl aminopeptidase 2, membrane-bound							199.0	164.0	176.0					X																	128877985		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128877985C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.172C>T	X.37:g.128877985C>T	ENSP00000360147:p.Arg58Cys					XPNPEP2_uc011mum.1_Missense_Mutation_p.R58C	p.R58C	NM_003399	NP_003390	O43895	XPP2_HUMAN			3	416	+			58					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.172C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287325	0.59867	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	D	0.84873	-1.91	5.46	5.46	0.80206	Creatinase (1);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	H	0.99090	4.425	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97186	0.9854	10	0.87932	D	0	-20.6854	13.5905	0.61957	0.0:1.0:0.0:0.0	.	58;58	B4DV70;O43895	.;XPP2_HUMAN	C	58	ENSP00000360147:R58C	ENSP00000360146:R58C	R	+	1	0	XPNPEP2	128705666	0.991000	0.36638	0.996000	0.52242	0.602000	0.36980	2.562000	0.45914	2.275000	0.75901	0.513000	0.50165	CGC		0.498	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		9	86	0	0	0	0.006214	0	9	86				
SAGE1	55511	broad.mit.edu	37	X	134990731	134990731	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:134990731A>T	ENST00000370709.3	+	11	1396	c.1396A>T	c.(1396-1398)Aat>Tat	p.N466Y	SAGE1_ENST00000324447.3_Missense_Mutation_p.N466Y|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.N466Y			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	466						nucleus (GO:0005634)		p.N466Y(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGGGCTTATTAATATGGCAGG	0.413																																							uc004ezh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1396-1398)AAT>TAT		sarcoma antigen 1							151.0	148.0	149.0					X																	134990731		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134990731A>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1396A>T	X.37:g.134990731A>T	ENSP00000359743:p.Asn466Tyr					SAGE1_uc010nry.1_Missense_Mutation_p.N435Y|SAGE1_uc011mvv.1_Intron	p.N466Y	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			12	1563	+	Acute lymphoblastic leukemia(192;0.000127)		466					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1396A>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	2.497	-0.316033	0.05422	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.33654	1.4;1.4;1.4	0.843	0.843	0.18935	.	0.000000	0.85682	U	0.000000	T	0.21674	0.0522	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13818	-1.0495	9	0.34782	T	0.22	.	.	.	.	.	466	Q9NXZ1	SAGE1_HUMAN	Y	466	ENSP00000323191:N466Y;ENSP00000445959:N466Y;ENSP00000359743:N466Y	ENSP00000323191:N466Y	N	+	1	0	SAGE1	134818397	0.919000	0.31177	0.008000	0.14137	0.026000	0.11368	1.940000	0.40223	0.571000	0.29365	0.222000	0.17777	AAT		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		73	56	0	0	0	0.01441	0	73	56				
GPR112	139378	broad.mit.edu	37	X	135430519	135430519	+	Missense_Mutation	SNP	T	T	A	rs368223288		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:135430519T>A	ENST00000394143.1	+	6	4945	c.4654T>A	c.(4654-4656)Tgt>Agt	p.C1552S	GPR112_ENST00000412101.1_Missense_Mutation_p.C1347S|GPR112_ENST00000370652.1_Missense_Mutation_p.C1552S|GPR112_ENST00000287534.4_Missense_Mutation_p.C1489S|GPR112_ENST00000394141.1_Missense_Mutation_p.C1347S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1552					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)	p.C1552S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAAAAGTCCCTGTACAGCCAC	0.418																																							uc004ezu.1		NA																	1	Substitution - Missense(1)	p.C1552Y(1)	lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(4654-4656)TGT>AGT		G-protein coupled receptor 112							119.0	114.0	116.0					X																	135430519		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430519T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4654T>A	X.37:g.135430519T>A	ENSP00000377699:p.Cys1552Ser					GPR112_uc010nsb.1_Missense_Mutation_p.C1347S|GPR112_uc010nsc.1_Missense_Mutation_p.C1319S	p.C1552S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4945	+	Acute lymphoblastic leukemia(192;0.000127)		1552			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4654T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.640432	0.00799	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.22743	1.97;1.97;1.94;2.1;1.94	2.86	0.136	0.14780	.	.	.	.	.	T	0.05456	0.0144	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.38693	-0.9649	9	0.02654	T	1	.	3.1175	0.06380	0.0:0.1565:0.2468:0.5966	.	1489;1347;1552	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1552;1552;1347;1489;1347	ENSP00000377699:C1552S;ENSP00000359686:C1552S;ENSP00000416526:C1347S;ENSP00000287534:C1489S;ENSP00000377697:C1347S	ENSP00000287534:C1489S	C	+	1	0	GPR112	135258185	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.230000	0.09083	-0.155000	0.11098	0.237000	0.17872	TGT		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			67	44	0	0	0	0.01441	0	67	44				
SLITRK4	139065	broad.mit.edu	37	X	142716785	142716785	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:142716785G>T	ENST00000381779.4	-	2	2365	c.2140C>A	c.(2140-2142)Cct>Act	p.P714T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P714T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P714T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	714						integral component of membrane (GO:0016021)		p.P714T(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGGAGGATCTGAAAAC	0.423																																							uc004fbx.2		NA																	2	Substitution - Missense(2)	p.P714T(1)	upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2140-2142)CCT>ACT		slit and trk like 4 protein precursor							86.0	84.0	85.0					X																	142716785		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716785G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2140C>A	X.37:g.142716785G>T	ENSP00000371198:p.Pro714Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.P714T	p.P714T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2516	-	Acute lymphoblastic leukemia(192;6.56e-05)		714			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2140C>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	7.900	0.734297	0.15574	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.51071	0.72;0.72;0.72	5.49	5.49	0.81192	.	0.170291	0.41097	U	0.000945	T	0.32496	0.0831	N	0.14661	0.345	0.47819	D	0.999528	B	0.20459	0.045	B	0.21546	0.035	T	0.12656	-1.0539	10	0.15066	T	0.55	-4.8168	16.82	0.85743	0.0:0.0:1.0:0.0	.	714	Q8IW52	SLIK4_HUMAN	T	714	ENSP00000371198:P714T;ENSP00000349400:P714T;ENSP00000336627:P714T	ENSP00000336627:P714T	P	-	1	0	SLITRK4	142544451	1.000000	0.71417	0.914000	0.36105	0.992000	0.81027	4.395000	0.59678	2.288000	0.76882	0.600000	0.82982	CCT		0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		61	40	1	0	2.44813e-32	0.01441	3.09764e-32	61	40				
FGFR2	2263	broad.mit.edu	37	10	123324018	123324020	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:123324018_123324020delTTG	ENST00000358487.5	-	4	722_724	c.450_452delCAA	c.(448-453)aacaag>aag	p.N150del	FGFR2_ENST00000351936.6_In_Frame_Del_p.N150del|FGFR2_ENST00000369061.4_In_Frame_Del_p.N150del|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_In_Frame_Del_p.N150del|FGFR2_ENST00000357555.5_In_Frame_Del_p.N61del|FGFR2_ENST00000346997.2_In_Frame_Del_p.N150del|FGFR2_ENST00000369060.4_In_Frame_Del_p.N150del|FGFR2_ENST00000457416.2_In_Frame_Del_p.N150del|FGFR2_ENST00000360144.3_In_Frame_Del_p.N61del|FGFR2_ENST00000369056.1_In_Frame_Del_p.N150del|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	150					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTACTTACTCTTGTTGTTACTGT	0.507		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																														uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(448-453)AACAAG>AAG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)																																			SO:0001651	inframe_deletion	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123324018_123324020delTTG	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.450_452delCAA	10.37:g.123324021_123324023delTTG	ENSP00000351276:p.Asn150del					FGFR2_uc010qtg.1_In_Frame_Del_p.N150del|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_In_Frame_Del_p.N61del|FGFR2_uc010qtj.1_In_Frame_Del_p.N150del|FGFR2_uc010qtl.1_In_Frame_Del_p.N150del|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_In_Frame_Del_p.N150del|FGFR2_uc001lfm.2_In_Frame_Del_p.N61del|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_In_Frame_Del_p.N169del|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_In_Frame_Del_p.N169del|FGFR2_uc010qtp.1_In_Frame_Del_p.N169del|FGFR2_uc010qtq.1_In_Frame_Del_p.N169del	p.N150del	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	4	1097_1099	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	150			Extracellular (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	In_Frame_Del	DEL	ENST00000358487.5	37	c.450_452delCAA	CCDS31298.1																																																																																				0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		20	93	NA	NA	NA	NA	NA	20	93	---	---	---	---
BUD13	84811	broad.mit.edu	37	11	116633839	116633839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:116633839delG	ENST00000260210.4	-	4	489	c.466delC	c.(466-468)cgtfs	p.R156fs	BUD13_ENST00000375445.3_Frame_Shift_Del_p.R156fs	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	156	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGTCATGACGGGCCCTCCTA	0.587																																							uc001ppn.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(466-468)CGTfs		BUD13 homolog isoform 1							99.0	105.0	103.0					11																	116633839		2201	4296	6497	SO:0001589	frameshift_variant	84811							g.chr11:116633839delG	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.466delC	11.37:g.116633839delG	ENSP00000260210:p.Arg156fs					BUD13_uc001ppo.2_Frame_Shift_Del_p.R156fs|BUD13_uc009yzc.2_Frame_Shift_Del_p.R156fs	p.R156fs	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	500	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	156			Arg-rich.		A8K0S0|Q96LS7	Frame_Shift_Del	DEL	ENST00000260210.4	37	c.466delC	CCDS8374.1																																																																																				0.587	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		52	110	NA	NA	NA	NA	NA	52	110	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59113753	59113753	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:59113753delC	ENST00000335867.4	+	4	2436	c.2412delC	c.(2410-2412)cacfs	p.H804fs	DACT1_ENST00000541264.2_Frame_Shift_Del_p.H523fs|DACT1_ENST00000556859.1_Frame_Shift_Del_p.H523fs|DACT1_ENST00000395153.3_Frame_Shift_Del_p.H767fs			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	804					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCACAACCACCCCGCAAAAA	0.502																																							uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2410-2412)CACfs		dapper 1 isoform 1							100.0	107.0	104.0					14																	59113753		2203	4300	6503	SO:0001589	frameshift_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113753delC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2412delC	14.37:g.59113753delC	ENSP00000337439:p.His804fs					DACT1_uc010trv.1_Frame_Shift_Del_p.H523fs|DACT1_uc001xdx.2_Frame_Shift_Del_p.H767fs|DACT1_uc010trw.1_Frame_Shift_Del_p.H523fs	p.H804fs	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2576	+			804					A8MYJ2|Q86TY0	Frame_Shift_Del	DEL	ENST00000335867.4	37	c.2412delC	CCDS9736.1																																																																																				0.502	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		33	49	NA	NA	NA	NA	NA	33	49	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29676209	29676209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:29676209delA	ENST00000358273.4	+	49	7644	c.7261delA	c.(7261-7263)aacfs	p.N2421fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.N2400fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.N134fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.N214fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2421					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTCTGGTTAACAAACACAG	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7261-7263)AACfs		neurofibromin isoform 1							82.0	77.0	79.0					17																	29676209		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29676209delA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7261delA	17.37:g.29676209delA	ENSP00000351015:p.Asn2421fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.N2400fs|NF1_uc010cso.2_Frame_Shift_Del_p.N609fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.N2421fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	49	7594	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2421					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7261delA	CCDS42292.1																																																																																				0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	15	NA	NA	NA	NA	NA	10	15	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50718982	50718982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:50718982delT	ENST00000449103.1	-	25	4251	c.4111delA	c.(4111-4113)acgfs	p.T1371fs	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.T1371fs			O15031	PLXB2_HUMAN	plexin B2	1371					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAAGAGCGTGTGCATGATG	0.657																																							uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4111-4113)ACGfs		plexin B2 precursor							91.0	98.0	96.0					22																	50718982		2195	4296	6491	SO:0001589	frameshift_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718982delT		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4111delA	22.37:g.50718982delT	ENSP00000409171:p.Thr1371fs					PLXNB2_uc003bkt.1_Frame_Shift_Del_p.T163fs|PLXNB2_uc003bku.1_Frame_Shift_Del_p.T356fs	p.T1371fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	25	4217	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1371			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	ENST00000449103.1	37	c.4111delA	CCDS43035.1																																																																																				0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		22	30	NA	NA	NA	NA	NA	22	30	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701411	30701412	+	Frame_Shift_Ins	INS	-	-	T	rs549924526		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:30701411_30701412insT	ENST00000256246.2	-	1	5196_5197	c.5122_5123insA	c.(5122-5124)aggfs	p.R1708fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTAAGTGCCTTTTTTTGTTT	0.376																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5122-5124)AGGfs		testis expressed 15																																				SO:0001589	frameshift_variant	56154							g.chr8:30701411_30701412insT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5123dupA	8.37:g.30701418_30701418dupT	ENSP00000256246:p.Arg1708fs						p.R1708fs	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5122_5123	-			1708						Frame_Shift_Ins	INS	ENST00000256246.2	37	c.5122_5123insA	CCDS6080.1																																																																																				0.376	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	131	NA	NA	NA	NA	NA	7	131	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117869548	117869549	+	Frame_Shift_Del	DEL	TA	TA	-	rs143910582		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:117869548_117869549delTA	ENST00000297338.2	-	6	932_933	c.645_646delTA	c.(643-648)tataagfs	p.YK215fs	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	215					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTATCATCCTTATATTGATCTT	0.327																																							uc003yod.2		NA																	0				lung(1)|skin(1)	2						c.(643-648)TATAAGfs		RAD21 homolog																																				SO:0001589	frameshift_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869548_117869549delTA	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.645_646delTA	8.37:g.117869550_117869551delTA	ENSP00000297338:p.Tyr215fs						p.Y215fs	NM_006265	NP_006256	O60216	RAD21_HUMAN			6	933_934	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		215_216					A8K0E0|Q15001|Q99568	Frame_Shift_Del	DEL	ENST00000297338.2	37	c.645_646delTA	CCDS6321.1																																																																																				0.327	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		48	86	NA	NA	NA	NA	NA	48	86	---	---	---	---
