#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:18962744G>A	ENST00000375375.3	+	4	1063	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000400661.3_Silent_p.S153S|PAX7_ENST00000420770.2_Silent_p.S155S	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	155	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(463-465)TCG>TCA		paired box 7 isoform 1							143.0	141.0	142.0					1																	18962744		2203	4300	6503	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18962744G>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.465G>A	1.37:g.18962744G>A						PAX7_uc001baz.2_Silent_p.S153S|PAX7_uc010oct.1_Silent_p.S155S	p.S155S	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	4	1063	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	155			Paired.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.465G>A	CCDS186.1																																																																																				0.522	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		47	100	0	0	0	0	47	100				
SZT2	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43907942C>G	ENST00000562955.1	+	56	7706	c.7706C>G	c.(7705-7707)gCc>gGc	p.A2569G	SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2626					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGCTGCCAAAGCCATG	0.602																																						uc001cjk.1		NA																	0					0						c.(5179-5181)GCC>GGC		hypothetical protein LOC23334																																				SO:0001583	missense	23334					peroxisome		g.chr1:43907942C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7706C>G	1.37:g.43907942C>G	ENSP00000457168:p.Ala2569Gly						p.A1727G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			42	5642	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2626					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5180C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250084	0.22880	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	5.15	0.70609	.	0.195453	0.44097	D	0.000482	T	0.19366	0.0465	N	0.08118	0	0.22096	N	0.999365	B	0.24721	0.11	B	0.29942	0.109	T	0.09707	-1.0662	9	0.42905	T	0.14	.	6.9681	0.24635	0.1864:0.7253:0.0:0.0883	.	2569	Q5T011-5	.	G	1727	.	ENSP00000361519:A1727G	A	+	2	0	SZT2	43680529	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.336000	0.43938	2.397000	0.81536	0.655000	0.94253	GCC		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	35	0	0	0	0	12	35				
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:110294291G>A	ENST00000361965.4	-	16	1654	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	EPS8L3_ENST00000361852.4_Silent_p.G486G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.G517G	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622																																						uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(1546-1548)GGC>GGT		epidermal growth factor receptor pathway							50.0	56.0	54.0					1																	110294291		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110294291G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1548C>T	1.37:g.110294291G>A						EPS8L3_uc001dys.1_Silent_p.G486G|EPS8L3_uc001dyq.1_Silent_p.G517G|EPS8L3_uc009wfm.1_Silent_p.G453G|EPS8L3_uc009wfn.1_Silent_p.G461G	p.G516G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	16	1693	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	516					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1548C>T	CCDS814.1																																																																																				0.622	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		33	44	0	0	0	0	33	44				
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10159-10161)CTC>CTT		filaggrin							227.0	251.0	243.0					1																	152277201		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277201G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10161C>T	1.37:g.152277201G>A							p.L3387L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10197	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3387			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10161C>T	CCDS30860.1																																																																																				0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		201	385	0	0	0	0	201	385				
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGCTACCTCGGAGGCAGTG	0.647																																						uc001fdd.1		NA																	0				ovary(1)	1						c.(3328-3330)GAG>AAG		DENN/MADD domain containing 4B							14.0	16.0	15.0					1																	153905961		1874	4039	5913	SO:0001583	missense	9909							g.chr1:153905961C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3328G>A	1.37:g.153905961C>T	ENSP00000354597:p.Glu1110Lys					uc001fdc.1_Intron	p.E1110K	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3729	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1110			Ser-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3328G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512625	0.64522	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08720	3.16;3.06	5.17	5.17	0.71159	.	0.179477	0.47852	D	0.000220	T	0.03136	0.0092	N	0.24115	0.695	0.44424	D	0.997348	D	0.56968	0.978	B	0.38296	0.27	T	0.53837	-0.8382	10	0.37606	T	0.19	-22.6786	17.5946	0.88007	0.0:1.0:0.0:0.0	.	1110	O75064	DEN4B_HUMAN	K	1110;1121	ENSP00000354597:E1110K;ENSP00000357635:E1121K	ENSP00000354597:E1110K	E	-	1	0	DENND4B	152172585	0.998000	0.40836	0.991000	0.47740	0.582000	0.36321	5.085000	0.64468	2.686000	0.91538	0.455000	0.32223	GAG		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	19	0	0	0	0	10	19				
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTCAGGCTCAGGTCTGAGA	0.642																																						uc001fdd.1		NA																	0				ovary(1)	1						c.(3013-3015)CTG>CTC		DENN/MADD domain containing 4B							14.0	15.0	15.0					1																	153906274		1876	4066	5942	SO:0001819	synonymous_variant	9909							g.chr1:153906274C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3015G>C	1.37:g.153906274C>G						uc001fdc.1_Intron	p.L1005L	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3416	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1005					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3015G>C	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		13	14	0	0	0	0	13	14				
AXDND1	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G	rs559196812		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:179414261C>G	ENST00000367618.3	+	16	2107	c.1720C>G	c.(1720-1722)Cga>Gga	p.R574G	AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	574										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCCATCAGAGCGACAGTACAT	0.338																																						uc001gmo.2		NA																	0					0						c.(1720-1722)CGA>GGA		hypothetical protein LOC126859 isoform 1							79.0	84.0	83.0					1																	179414261		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414261C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1720C>G	1.37:g.179414261C>G	ENSP00000356590:p.Arg574Gly					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Missense_Mutation_p.R362G|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R574G	p.R574G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			16	1847	+			574			Potential.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1720C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	5.222	0.226373	0.09916	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.43294	2.28;0.95;2.28	5.65	4.74	0.60224	.	0.963463	0.08695	N	0.907333	T	0.36026	0.0952	L	0.34521	1.04	0.18873	N	0.999986	B;B;B	0.27192	0.023;0.023;0.171	B;B;B	0.25140	0.011;0.011;0.058	T	0.26780	-1.0093	10	0.45353	T	0.12	0.1027	12.3226	0.54993	0.1691:0.8309:0.0:0.0	.	532;574;574	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	G	574;532;574;508	ENSP00000356590:R574G;ENSP00000416712:R574G;ENSP00000391716:R508G	ENSP00000353471:R532G	R	+	1	2	AXDND1	177680884	0.025000	0.19082	0.887000	0.34795	0.015000	0.08874	-0.004000	0.12878	1.513000	0.48852	0.549000	0.68633	CGA		0.338	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		35	67	0	0	0	0	35	67				
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(967-969)GAA>GAG		quiescin Q6 sulfhydryl oxidase 1 isoform a							82.0	79.0	80.0					1																	180155269		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180155269A>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.969A>G	1.37:g.180155269A>G						QSOX1_uc001gny.2_Silent_p.E323E|QSOX1_uc001goa.2_Silent_p.E323E	p.E323E	NM_002826	NP_002817	O00391	QSOX1_HUMAN			8	1044	+			323					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.969A>G	CCDS1337.1																																																																																				0.577	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		20	53	0	0	0	0	20	53				
PRG4	10216	broad.mit.edu	37	1	186276526	186276526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:186276526G>A	ENST00000445192.2	+	7	1720	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	PRG4_ENST00000367485.4_Missense_Mutation_p.E466K|PRG4_ENST00000367483.4_Missense_Mutation_p.E518K|PRG4_ENST00000367486.3_Missense_Mutation_p.E516K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGGAGCCTGCACC	0.637																																						uc001gru.3		NA																	0				skin(1)	1						c.(1675-1677)GAG>AAG		proteoglycan 4 isoform A							122.0	115.0	118.0					1																	186276526		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276526G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1675G>A	1.37:g.186276526G>A	ENSP00000399679:p.Glu559Lys					PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron	p.E559K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1726	+			559			28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1675G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922315	0.17982	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.52;3.62;3.52;3.63	3.73	-1.24	0.09435	.	.	.	.	.	T	0.04543	0.0124	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.012;0.046	B;B;B;B	0.18263	0.021;0.021;0.006;0.014	T	0.43310	-0.9399	8	.	.	.	.	3.2181	0.06706	0.1432:0.1399:0.5736:0.1433	.	425;466;559;518	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	516;425;518;466;559	ENSP00000356456:E516K;ENSP00000356453:E518K;ENSP00000356455:E466K;ENSP00000399679:E559K	.	E	+	1	0	PRG4	184543149	0.188000	0.23250	0.000000	0.03702	0.000000	0.00434	3.953000	0.56699	-0.079000	0.12707	-0.656000	0.03901	GAG		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	65	0	0	0	0	4	65				
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(769-771)GAT>CAT		arginyl aminopeptidase							179.0	165.0	170.0					1																	201965306		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201965306G>C	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.769G>C	1.37:g.201965306G>C	ENSP00000295640:p.Asp257His					RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.D126H	p.D257H	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	4	798	+			257					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.769G>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833533	0.16820	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.02787	4.16;4.16;4.16	5.3	3.41	0.39046	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.586739	0.16794	N	0.199247	T	0.08980	0.0222	L	0.61387	1.9	0.09310	N	0.999998	P;P	0.41978	0.767;0.564	P;P	0.53266	0.722;0.722	T	0.03175	-1.1064	10	0.72032	D	0.01	-2.5654	10.7903	0.46429	0.1597:0.0:0.8403:0.0	.	265;257	Q7RU04;Q9H4A4	.;AMPB_HUMAN	H	257;126;3	ENSP00000295640:D257H;ENSP00000389602:D126H;ENSP00000407614:D3H	ENSP00000295640:D257H	D	+	1	0	RNPEP	200231929	0.148000	0.22702	0.314000	0.25224	0.206000	0.24218	0.875000	0.28079	1.204000	0.43247	0.655000	0.94253	GAT		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		57	108	0	0	0	0	57	108				
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453																																						uc001hks.2		NA																	0				ovary(3)	3						c.(1171-1173)GGT>GAT		potassium channel tetramerisation domain							135.0	127.0	130.0					1																	215777507		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777507G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1172G>A	1.37:g.215777507G>A	ENSP00000259154:p.Gly391Asp					KCTD3_uc001hkt.2_Missense_Mutation_p.G391D|KCTD3_uc010pub.1_Missense_Mutation_p.G289D|KCTD3_uc009xdn.2_Missense_Mutation_p.G143D	p.G391D	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1466	+			391					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1172G>A	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.482890|5.482890	0.96307|0.96307	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366946|ENST00000452413	T|.	0.10477|.	2.87|.	6.17|6.17	6.17|6.17	0.99709|0.99709	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85106|.	0.5621|.	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.992|.	D|.	0.85654|.	0.1284|.	10|.	0.87932|.	D|.	0|.	-32.7248|-32.7248	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	143;143;391;391|.	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597|.	.;.;.;KCTD3_HUMAN|.	D|X	391;43|22	ENSP00000259154:G391D|.	ENSP00000259154:G391D|.	G|W	+|+	2|3	0|0	KCTD3|KCTD3	213844130|213844130	1.000000|1.000000	0.71417|0.71417	0.640000|0.640000	0.29408|0.29408	0.982000|0.982000	0.71751|0.71751	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		33	86	0	0	0	0	33	86				
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(436-438)TCA>TTA		HHIP-like 2 precursor							83.0	95.0	91.0					1																	222717416		2059	4220	6279	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717416G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.437C>T	1.37:g.222717416G>A	ENSP00000342118:p.Ser146Leu						p.S146L	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	495	-			146					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.437C>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550598	0.45383	.	.	ENSG00000143512	ENST00000343410	T	0.47177	0.85	5.59	5.59	0.84812	Folate receptor-like (1);	0.541205	0.21324	N	0.076403	T	0.65091	0.2658	M	0.85859	2.78	0.38593	D	0.950489	P	0.47910	0.902	P	0.53035	0.716	T	0.68704	-0.5338	10	0.37606	T	0.19	-10.4223	14.7556	0.69560	0.0:0.1444:0.8556:0.0	.	146	Q6UWX4	HIPL2_HUMAN	L	146	ENSP00000342118:S146L	ENSP00000342118:S146L	S	-	2	0	HHIPL2	220784039	1.000000	0.71417	0.429000	0.26710	0.238000	0.25445	5.802000	0.69122	2.606000	0.88127	0.591000	0.81541	TCA		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		70	142	0	0	0	0	70	142				
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(427-429)GTG>TTG		DIP2 disco-interacting protein 2 homolog C							90.0	93.0	92.0					10																	468941		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468941C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.427G>T	10.37:g.468941C>A	ENSP00000280886:p.Val143Leu					DIP2C_uc009xhk.1_Missense_Mutation_p.Q144H	p.V143L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	517	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	143					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.427G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	6.626	0.483977	0.12581	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.27104	2.07;1.69	5.39	5.39	0.77823	.	0.075665	0.51477	D	0.000087	T	0.10380	0.0254	N	0.03948	-0.315	0.42822	D	0.993996	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	10	0.02654	T	1	-26.908	13.5111	0.61513	0.0:0.9252:0.0:0.0748	.	143	Q9Y2E4	DIP2C_HUMAN	L	143;36	ENSP00000280886:V143L;ENSP00000370907:V36L	ENSP00000280886:V143L	V	-	1	0	DIP2C	458941	0.909000	0.30893	0.994000	0.49952	0.842000	0.47809	2.102000	0.41796	2.539000	0.85634	0.460000	0.39030	GTG		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		58	128	1	0	7.11e-31	8.22e-31	58	128				
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:37508487C>T	ENST00000602533.1	+	34	3778	c.3679C>T	c.(3679-3681)Cat>Tat	p.H1227Y	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1346Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373																																						uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3679-3681)CAT>TAT		ankyrin repeat domain 30A							71.0	60.0	64.0					10																	37508487		1905	4118	6023	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508487C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3679C>T	10.37:g.37508487C>T	ENSP00000473551:p.His1227Tyr						p.H1227Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3778	+			1283			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3679C>T		.	.	.	.	.	.	.	.	.	.	c	0.011	-1.725494	0.00694	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14766	2.48;2.48	2.91	-5.82	0.02333	.	.	.	.	.	T	0.09730	0.0239	M	0.64170	1.965	0.09310	N	1	P	0.39940	0.696	B	0.34242	0.178	T	0.01065	-1.1463	9	0.66056	D	0.02	.	1.1735	0.01830	0.2651:0.1657:0.363:0.2061	.	1283	Q9BXX3	AN30A_HUMAN	Y	1227;1346	ENSP00000354432:H1227Y;ENSP00000363792:H1346Y	ENSP00000354432:H1227Y	H	+	1	0	ANKRD30A	37548493	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-2.884000	0.00318	-2.244000	0.00286	CAT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		19	51	0	0	0	0	19	51				
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:97174295G>A	ENST00000361941.3	-	7	792	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371247.2_Missense_Mutation_p.R256C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000474353.2_5'UTR	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637																																						uc001kkp.2		NA																	0				breast(1)	1						c.(766-768)CGC>TGC		sorbin and SH3 domain containing 1 isoform 3							34.0	35.0	35.0					10																	97174295		2202	4297	6499	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174295G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.766C>T	10.37:g.97174295G>A	ENSP00000355136:p.Arg256Cys					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R256C|SORBS1_uc001kkq.2_Missense_Mutation_p.R187C|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.R224C|SORBS1_uc001kkw.2_Missense_Mutation_p.R256C|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.R454C|SORBS1_uc001kkx.1_Missense_Mutation_p.R224C	p.R256C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	811	-		Colorectal(252;0.0429)	256						Missense_Mutation	SNP	ENST00000361941.3	37	c.766C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877885	0.72294	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.47869	1.56;1.41;0.83;1.41;0.83;0.83;1.56;0.83;0.83;0.83	5.54	4.63	0.57726	.	0.700803	0.12501	N	0.463348	T	0.52901	0.1763	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.995;0.987;0.999;0.983;0.999	P;P;P;B;P;B;P	0.59221	0.854;0.731;0.59;0.401;0.736;0.288;0.851	T	0.55023	-0.8205	10	0.72032	D	0.01	1.0744	15.4621	0.75366	0.0:0.139:0.861:0.0	.	454;224;256;224;187;256;256	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	C	187;224;256;256;256;247;187;256;256;247	ENSP00000360291:R187C;ENSP00000360295:R224C;ENSP00000360293:R256C;ENSP00000360271:R256C;ENSP00000360292:R256C;ENSP00000377521:R247C;ENSP00000343998:R187C;ENSP00000355136:R256C;ENSP00000277982:R256C;ENSP00000277984:R247C	ENSP00000277982:R256C	R	-	1	0	SORBS1	97164285	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	5.235000	0.65348	1.318000	0.45170	0.555000	0.69702	CGC		0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			24	58	0	0	0	0	24	58				
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(802-804)GCA>ACA		ubiquilin 3			THR/ALA	0,4402		0,0,2201	122.0	106.0	112.0		802	5.6	1.0	11	dbSNP_134	112	3,8591	3.0+/-9.4	0,3,4294	yes	missense	UBQLN3	NM_017481.2	58	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	268/656	5529987	3,12993	2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529987C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.802G>A	11.37:g.5529987C>T	ENSP00000347997:p.Ala268Thr					HBG2_uc001mak.1_Intron	p.A268T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	888	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	268					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.802G>A	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	21.0	4.086352	0.76642	0.0	3.49E-4	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000389	T	0.54159	0.1841	M	0.88181	2.935	0.47094	D	0.999313	P	0.39060	0.657	B	0.30105	0.111	T	0.66396	-0.5934	10	0.87932	D	0	-11.0381	17.5369	0.87834	0.0:1.0:0.0:0.0	.	268	Q9H347	UBQL3_HUMAN	T	268	ENSP00000347997:A268T	ENSP00000347997:A268T	A	-	1	0	UBQLN3	5486563	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	7.322000	0.79097	2.804000	0.96469	0.586000	0.80456	GCA		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		70	136	0	0	0	0	70	136				
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378																																						uc001mkz.2		NA																	0					0						c.(619-621)CGA>CAA		K+ channel tetramerization protein							233.0	212.0	219.0					11																	13438772		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13438772C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.620G>A	11.37:g.13438772C>T	ENSP00000278174:p.Arg207Gln					BTBD10_uc010rcl.1_Missense_Mutation_p.R215Q|BTBD10_uc001mla.2_Missense_Mutation_p.R191Q|BTBD10_uc009ygn.2_Intron|BTBD10_uc010rcm.1_Missense_Mutation_p.R159Q|BTBD10_uc010rcn.1_Missense_Mutation_p.R176Q|BTBD10_uc009ygo.2_Missense_Mutation_p.R159Q	p.R207Q	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	5	877	-			207			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.620G>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803534	0.96960	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.77750	-1.12;-1.12;-1.12	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.998;0.998	B;D;P;P	0.64042	0.446;0.921;0.809;0.809	T	0.78193	-0.2299	10	0.26408	T	0.33	-45.3306	19.8331	0.96643	0.0:1.0:0.0:0.0	.	176;215;207;207	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	Q	207;215;159	ENSP00000278174:R207Q;ENSP00000431186:R215Q;ENSP00000435257:R159Q	ENSP00000278174:R207Q	R	-	2	0	BTBD10	13395348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	CGA		0.378	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		81	155	0	0	0	0	81	155				
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(706-708)GGC>AGC		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						77.0	74.0	75.0					11																	14901976		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14901976C>T	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.706G>A	11.37:g.14901976C>T	ENSP00000334592:p.Gly236Ser					CYP2R1_uc001mlo.2_Intron|CYP2R1_uc001mlp.2_Missense_Mutation_p.G119S|CYP2R1_uc001mlq.2_RNA|CYP2R1_uc001mls.1_Missense_Mutation_p.G181S	p.G236S	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			3	706	-			236					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.706G>A	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059619	0.76074	.	.	ENSG00000186104	ENST00000334636	T	0.66815	-0.23	6.17	6.17	0.99709	.	0.143080	0.64402	D	0.000006	T	0.68081	0.2962	N	0.21373	0.66	0.80722	D	1	P;B	0.35774	0.519;0.004	P;B	0.47075	0.536;0.025	T	0.67669	-0.5611	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	121;236	E9PS56;Q6VVX0	.;CP2R1_HUMAN	S	236	ENSP00000334592:G236S	ENSP00000334592:G236S	G	-	1	0	CYP2R1	14858552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.964000	0.63701	2.941000	0.99782	0.655000	0.94253	GGC		0.398	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		31	83	0	0	0	0	31	83				
ATG13	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:46681003A>G	ENST00000434074.1	+	10	1446	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	ATG13_ENST00000451945.1_Missense_Mutation_p.T253A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	253					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGAAGTGTGTACCACCTCTTT	0.433																																						uc009yld.2		NA																	0					0						c.(757-759)ACC>GCC		autophagy-related protein 13 isoform 1							102.0	92.0	96.0					11																	46681003		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46681003A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.757A>G	11.37:g.46681003A>G	ENSP00000400642:p.Thr253Ala					KIAA0652_uc001nda.2_Missense_Mutation_p.T253A|KIAA0652_uc001ndb.2_Missense_Mutation_p.T253A|KIAA0652_uc001ncz.2_Missense_Mutation_p.T253A|KIAA0652_uc001ndc.2_Missense_Mutation_p.T253A|KIAA0652_uc010rgv.1_Missense_Mutation_p.T174A	p.T253A	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	11	1441	+			253					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.757A>G	CCDS44582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.95|17.95	3.512708|3.512708	0.64522|0.64522	.|.	.|.	ENSG00000175224|ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494|ENST00000531933	.|.	.|.	.|.	6.02|6.02	4.89|4.89	0.63831|0.63831	.|.	0.043797|.	0.85682|.	N|.	0.000000|.	T|T	0.62134|0.62134	0.2403|0.2403	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.99996|0.99996	B;B;B;B|.	0.23591|.	0.0;0.007;0.088;0.005|.	B;B;B;B|.	0.25405|.	0.001;0.009;0.06;0.004|.	T|T	0.58989|0.58989	-0.7538|-0.7538	9|5	0.33940|.	T|.	0.23|.	-12.9875|-12.9875	12.1005|12.1005	0.53780|0.53780	0.9334:0.0:0.0666:0.0|0.9334:0.0:0.0666:0.0	.|.	174;253;253;253|.	B4DFI4;O75143;E9PQZ8;O75143-2|.	.;ATG13_HUMAN;.;.|.	A|C	253;253;253;253;253;174;253;253;253;253|11	.|.	ENSP00000310321:T253A|.	T|Y	+|+	1|2	0|0	ATG13|ATG13	46637579|46637579	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.984000|0.984000	0.73092|0.73092	5.414000|5.414000	0.66405|0.66405	1.103000|1.103000	0.41568|0.41568	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		33	70	0	0	0	0	33	70				
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473																																						uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(817-819)GTG>GGG		olfactory receptor, family 5, subfamily L,							87.0	78.0	81.0					11																	55579760		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579760T>G	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.818T>G	11.37:g.55579760T>G	ENSP00000335529:p.Val273Gly						p.V273G	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	818	+		all_epithelial(135;0.208)	273			Helical; Name=7; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.818T>G	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	16.26	3.072896	0.55646	.	.	ENSG00000186117	ENST00000333973	T	0.00285	8.3	4.12	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999994	D	0.63046	0.992	D	0.68483	0.958	T	0.50189	-0.8857	10	0.87932	D	0	-27.017	5.1333	0.14922	0.3021:0.0:0.1551:0.5428	.	273	Q8NGL2	OR5L1_HUMAN	G	273	ENSP00000335529:V273G	ENSP00000335529:V273G	V	+	2	0	OR5L1	55336336	0.002000	0.14202	0.015000	0.15790	0.559000	0.35586	1.330000	0.33781	0.457000	0.26962	0.352000	0.21897	GTG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	70	0	0	0	0	33	70				
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:65304218G>A	ENST00000270176.5	+	13	1890	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000524944.1_Missense_Mutation_p.E605K	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607																																						uc001oea.1		NA																	0				skin(1)	1						c.(1813-1815)GAA>AAA		SCY1-like 1 isoform A							89.0	102.0	97.0					11																	65304218		2113	4221	6334	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304218G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1813G>A	11.37:g.65304218G>A	ENSP00000270176:p.Glu605Lys					SCYL1_uc009yqk.2_Missense_Mutation_p.E605K|SCYL1_uc001oeb.1_Missense_Mutation_p.E605K|SCYL1_uc001oec.1_Missense_Mutation_p.E605K|SCYL1_uc001oed.1_Missense_Mutation_p.E462K|SCYL1_uc001oee.1_Missense_Mutation_p.E249K	p.E605K	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			13	1890	+			605			Pro-rich.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1813G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054883	0.36277	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.29917	2.3;2.28;2.29;2.3;1.56;2.3;2.3;2.3;1.55	4.95	4.95	0.65309	.	0.626220	0.15655	N	0.251200	T	0.14270	0.0345	N	0.08118	0	0.45295	D	0.998297	B;B;B;B;B	0.30406	0.021;0.157;0.0;0.052;0.278	B;B;B;B;B	0.24974	0.012;0.047;0.002;0.024;0.057	T	0.05533	-1.0879	10	0.06236	T	0.91	-11.9099	13.6635	0.62380	0.0:0.0:1.0:0.0	.	605;605;605;605;605	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	K	605;605;605;605;605;605;605;605;462;78	ENSP00000270176:E605K;ENSP00000431635:E605K;ENSP00000408192:E605K;ENSP00000437254:E605K;ENSP00000433450:E605K;ENSP00000279270:E605K;ENSP00000432175:E605K;ENSP00000436993:E462K;ENSP00000433604:E78K	ENSP00000270176:E605K	E	+	1	0	SCYL1	65060794	1.000000	0.71417	0.985000	0.45067	0.023000	0.10783	4.815000	0.62634	2.297000	0.77311	0.462000	0.41574	GAA		0.607	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		49	125	0	0	0	0	49	125				
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:95591793T>C	ENST00000346299.5	-	6	812	c.472A>G	c.(472-474)Att>Gtt	p.I158V	MTMR2_ENST00000393223.3_Missense_Mutation_p.I86V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313																																						uc001pfu.2		NA																	0				pancreas(1)	1						c.(472-474)ATT>GTT		myotubularin-related protein 2 isoform 1							78.0	83.0	82.0					11																	95591793		2201	4296	6497	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95591793T>C	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.472A>G	11.37:g.95591793T>C	ENSP00000345752:p.Ile158Val					MTMR2_uc001pfv.2_Missense_Mutation_p.I86V|MTMR2_uc001pfs.2_Missense_Mutation_p.I86V|MTMR2_uc001pft.2_Missense_Mutation_p.I86V|MTMR2_uc010ruj.1_Missense_Mutation_p.I141V	p.I158V	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			6	725	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	158					A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.472A>G	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526227	0.44969	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.39	5.39	0.77823	.	0.084540	0.85682	D	0.000000	T	0.77498	0.4139	L	0.46157	1.445	0.48288	D	0.999628	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.74247	-0.3727	10	0.56958	D	0.05	.	10.8618	0.46831	0.0:0.0738:0.0:0.9262	.	158;158	A8K5G2;Q13614	.;MTMR2_HUMAN	V	158;86;86;86;86;141	ENSP00000345752:I158V;ENSP00000376915:I86V;ENSP00000386882:I86V;ENSP00000343737:I86V;ENSP00000396020:I86V	ENSP00000345752:I158V	I	-	1	0	MTMR2	95231441	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.962000	0.49176	2.147000	0.66899	0.533000	0.62120	ATT		0.313	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		61	106	0	0	0	0	61	106				
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	RPS25_ENST00000528547.1_5'UTR|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000359005.4_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468																																						uc001pun.2		NA																	0					0						c.(88-90)GCC>GCT		ribosomal protein S25							155.0	164.0	161.0					11																	118888677		2200	4295	6495	SO:0001819	synonymous_variant	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888677G>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.90C>T	11.37:g.118888677G>A						TRAPPC4_uc010ryn.1_5'Flank|TRAPPC4_uc010ryo.1_5'Flank|TRAPPC4_uc010ryp.1_5'Flank|TRAPPC4_uc001pup.2_5'Flank|TRAPPC4_uc010ryq.1_5'Flank	p.A30A	NM_001028	NP_001019	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	153	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	30					B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.90C>T	CCDS8406.1																																																																																				0.468	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		63	128	0	0	0	0	63	128				
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.001					uc001rci.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(853-855)GGG>AGG		WW domain binding protein 11		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	341.0	298.0	313.0		853	5.2	1.0	12	dbSNP_134	313	0,8600		0,0,4300	no	missense	WBP11	NM_016312.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	285/642	14946725	1,13005	2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946725C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.853G>A	12.37:g.14946725C>T	ENSP00000261167:p.Gly285Arg						p.G285R	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			8	1014	-			285			Asp-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.853G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598949	0.66332	2.27E-4	0.0	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.89939	-2.59	5.23	5.23	0.72850	.	0.294191	0.32218	N	0.006405	D	0.85120	0.5624	L	0.50333	1.59	0.38758	D	0.95425	P	0.48589	0.912	B	0.36719	0.231	D	0.88703	0.3217	10	0.66056	D	0.02	-9.2113	16.2999	0.82804	0.0:1.0:0.0:0.0	.	285	Q9Y2W2	WBP11_HUMAN	R	285	ENSP00000442868:G285R	ENSP00000261167:G285R	G	-	1	0	WBP11	14837992	0.533000	0.26354	0.998000	0.56505	0.953000	0.61014	3.573000	0.53856	2.448000	0.82819	0.655000	0.94253	GGG		0.423	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		128	262	0	0	0	0	128	262				
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:32480416C>T	ENST00000281474.5	+	5	1130	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000548411.1_Missense_Mutation_p.L343F	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1027-1029)CTT>TTT		bicaudal D homolog 1 isoform 1							80.0	78.0	79.0					12																	32480416		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480416C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1027C>T	12.37:g.32480416C>T	ENSP00000281474:p.Leu343Phe					BICD1_uc001rkv.2_Missense_Mutation_p.L343F|BICD1_uc010skd.1_RNA	p.L343F	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1108	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		343			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1027C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948010	0.73787	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.65916	-0.18;-0.18	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.81612	0.4859	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84558	0.0648	10	0.66056	D	0.02	.	12.5041	0.55972	0.0:0.9229:0.0:0.0771	.	343;343	F8W113;Q96G01	.;BICD1_HUMAN	F	343	ENSP00000446793:L343F;ENSP00000281474:L343F	ENSP00000281474:L343F	L	+	1	0	BICD1	32371683	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.863000	0.69568	2.597000	0.87782	0.655000	0.94253	CTT		0.527	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		37	93	0	0	0	0	37	93				
KMT2D	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49428450C>G	ENST00000301067.7	-	36	10355		c.e36-1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACTTGCTGTCTGGAGTCCAC	0.547																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e36-1		myeloid/lymphoid or mixed-lineage leukemia 2							40.0	40.0	40.0					12																	49428450		1942	4131	6073	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49428450C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10356-1G>C	12.37:g.49428450C>G		HNSCC(34;0.089)					p.R3452_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			36	10356	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.10356_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367141	0.61513	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1649	0.81747	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47714717	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.631000	0.61304	2.779000	0.95612	0.655000	0.94253	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	7	27	0	0	0	0	7	27				
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483																																						uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(439-441)AAT>ATT		dopamine receptor interacting protein							115.0	119.0	118.0					12																	56222003		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222003T>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.440A>T	12.37:g.56222003T>A	ENSP00000350223:p.Asn147Ile					DNAJC14_uc001shu.1_Missense_Mutation_p.N147I|DNAJC14_uc009zob.1_Missense_Mutation_p.N147I|DNAJC14_uc001shy.1_Missense_Mutation_p.N147I	p.N147I	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	644	-			147					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.440A>T	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	T	5.381	0.255550	0.10185	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.31769	1.48;1.48;1.48	5.27	4.13	0.48395	.	0.410936	0.24625	N	0.036926	T	0.15869	0.0382	N	0.08118	0	0.09310	N	0.999992	B;B	0.17268	0.012;0.021	B;B	0.18871	0.023;0.023	T	0.17077	-1.0381	10	0.87932	D	0	-1.5277	7.8117	0.29234	0.0:0.0942:0.0:0.9058	.	147;147	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	I	147	ENSP00000350223:N147I;ENSP00000316240:N147I;ENSP00000317500:N147I	ENSP00000316240:N147I	N	-	2	0	DNAJC14	54508270	0.181000	0.23161	0.850000	0.33497	0.088000	0.18126	1.932000	0.40143	0.967000	0.38186	0.528000	0.53228	AAT		0.483	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		91	161	0	0	0	0	91	161				
CNPY2	10330	broad.mit.edu	37	12	56712923	56712923	+	5'Flank	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56712923T>C	ENST00000273308.4	-	0	0				PAN2_ENST00000425394.2_Missense_Mutation_p.M1109V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTTCGGGGCATATGGAACAGG	0.498																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3325-3327)ATG>GTG		PAN2 polyA specific ribonuclease subunit homolog							105.0	96.0	99.0					12																	56712923		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56712923T>C	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712923T>C	Exception_encountered					CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Missense_Mutation_p.M257V|PAN2_uc001skz.2_Missense_Mutation_p.M1108V|PAN2_uc001sky.2_Missense_Mutation_p.M1105V	p.M1109V	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			24	3698	-			1109			Exonuclease.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3325A>G	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414742	0.42817	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.63	5.63	0.86233	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.100158	0.64402	D	0.000002	T	0.25344	0.0616	N	0.04297	-0.235	0.49299	D	0.999778	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.08186	-1.0734	10	0.66056	D	0.02	-22.9171	15.1304	0.72517	0.0:0.0:0.0:1.0	.	1108;1105;1109	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	1109;1105;1108;1109	ENSP00000401721:M1109V;ENSP00000388231:M1105V;ENSP00000257931:M1108V;ENSP00000449861:M1109V	ENSP00000257931:M1108V	M	-	1	0	PAN2	54999190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.988000	0.63863	2.279000	0.76181	0.533000	0.62120	ATG		0.498	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		24	55	0	0	0	0	24	55				
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:36700037G>A	ENST00000360631.3	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000255448.4_Missense_Mutation_p.R80W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507																																						uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(238-240)CGG>TGG		doublecortin-like kinase 1							110.0	99.0	103.0					13																	36700037		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700037G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.238C>T	13.37:g.36700037G>A	ENSP00000353846:p.Arg80Trp						p.R80W	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	471	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	80			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.238C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984298	0.74474	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.93076	-3.16;-3.16;-3.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98121	1.0425	10	0.87932	D	0	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	80	O15075-2	.	W	80	ENSP00000255448:R80W;ENSP00000353846:R80W;ENSP00000369222:R80W	ENSP00000255448:R80W	R	-	1	2	DCLK1	35598037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.326000	0.52037	2.671000	0.90904	0.650000	0.86243	CGG		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		40	122	0	0	0	0	40	122				
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:45768678C>G	ENST00000379108.1	-	1	174	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.E9Q			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388																																						uc001uzx.3		NA																	0					0						c.(25-27)GAA>CAA		potassium channel tetramerisation domain							193.0	182.0	185.0					13																	45768678		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768678C>G	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.25G>C	13.37:g.45768678C>G	ENSP00000368402:p.Glu9Gln					GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	p.E9Q	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	429	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	9					Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.25G>C	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081901	0.36758	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.56611	0.45;0.45	5.5	5.5	0.81552	.	0.051848	0.85682	D	0.000000	T	0.40015	0.1100	N	0.14661	0.345	0.46609	D	0.999121	B	0.22003	0.063	B	0.11329	0.006	T	0.23868	-1.0176	10	0.56958	D	0.05	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	9	Q8WVF5	KCTD4_HUMAN	Q	9	ENSP00000368402:E9Q;ENSP00000385144:E9Q	ENSP00000368402:E9Q	E	-	1	0	KCTD4	44666678	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.205000	0.77881	2.749000	0.94314	0.585000	0.79938	GAA		0.388	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			93	160	0	0	0	0	93	160				
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1060-1062)GAT>GTT		L-plastin							78.0	73.0	74.0					13																	46721156		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721156T>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1061A>T	13.37:g.46721156T>A	ENSP00000381581:p.Asp354Val					LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.D354V	p.D354V	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	10	1187	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	354			CH 2.|Actin-binding 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1061A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504605	0.85176	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.97575	-4.44;-4.44	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	-25.7477	14.7972	0.69886	0.0:0.0:0.0:1.0	.	354	P13796	PLSL_HUMAN	V	354	ENSP00000315757:D354V;ENSP00000381581:D354V	ENSP00000315757:D354V	D	-	2	0	LCP1	45619157	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.997000	0.88414	2.135000	0.66039	0.528000	0.53228	GAT		0.532	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		25	59	0	0	0	0	25	59				
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:114112358G>A	ENST00000478244.1	-	7	1048	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.R123C	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vtr.1		NA																	0					0						c.(766-768)CGC>TGC		DCN1, defective in cullin neddylation 1, domain							233.0	239.0	237.0					13																	114112358		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114112358G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.766C>T	13.37:g.114112358G>A	ENSP00000417706:p.Arg256Cys		OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.R123C	p.R256C	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		7	805	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	256					Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.766C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350226	0.41599	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.79	2.07	0.26955	.	0.053400	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.29081	N	0.882718	D	0.56287	0.975	P	0.46339	0.513	T	0.09250	-1.0683	9	0.59425	D	0.04	.	6.2333	0.20747	0.0737:0.1391:0.6531:0.1341	.	256	Q6PH85	DCNL2_HUMAN	C	123;256	.	ENSP00000330629:R123C	R	-	1	0	DCUN1D2	113160359	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	7.020000	0.76419	0.098000	0.17522	-0.181000	0.13052	CGC		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		28	446	0	0	0	0	28	446				
JPH4	84502	broad.mit.edu	37	14	24045205	24045205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:24045205C>G	ENST00000397118.3	-	4	1742	c.840G>C	c.(838-840)gaG>gaC	p.E280D	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.E280D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	280					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCGTACACCTCTGTGGCCG	0.766																																						uc001wkq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(838-840)GAG>GAC		junctophilin 4							6.0	7.0	6.0					14																	24045205		1646	3422	5068	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045205C>G	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.840G>C	14.37:g.24045205C>G	ENSP00000380307:p.Glu280Asp					JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.E280D|JPH4_uc001wks.2_Missense_Mutation_p.E280D	p.E280D	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1758	-	all_cancers(95;0.000251)		280			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.840G>C	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	14.23	2.472589	0.43942	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.58652	0.32;0.32	3.98	-1.63	0.08345	.	.	.	.	.	T	0.56077	0.1961	L	0.48362	1.52	0.24428	N	0.994589	D;D	0.61697	0.99;0.976	P;P	0.51516	0.672;0.672	T	0.53975	-0.8362	9	0.72032	D	0.01	.	9.4813	0.38902	0.0:0.4116:0.0:0.5884	.	280;280	A8K396;Q96JJ6	.;JPH4_HUMAN	D	280;280;280;281	ENSP00000348648:E280D;ENSP00000380307:E280D	ENSP00000267407:E281D	E	-	3	2	JPH4	23115045	0.566000	0.26618	0.920000	0.36463	0.805000	0.45488	0.045000	0.14013	-0.513000	0.06496	-1.094000	0.02160	GAG		0.766	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		3	8	0	0	0	0	3	8				
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGTGAGGCTTCCTGTCCGGCT	0.572																																						uc001zql.2		NA																	0				ovary(2)	2						c.(850-852)GGA>GAA		codanin 1							45.0	48.0	47.0					15																	43027800		2202	4292	6494	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43027800C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.851G>A	15.37:g.43027800C>T	ENSP00000348564:p.Gly284Glu					CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	p.G284E	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	4	968	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	284					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.851G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931987	0.52866	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86562	-2.14	5.68	5.68	0.88126	.	0.387651	0.29328	N	0.012462	D	0.86171	0.5869	L	0.34521	1.04	0.39728	D	0.971566	D	0.56035	0.974	P	0.53146	0.719	D	0.84179	0.0438	10	0.24483	T	0.36	-10.2267	15.299	0.73931	0.0:1.0:0.0:0.0	.	284	Q8IWY9	CDAN1_HUMAN	E	284;282	ENSP00000348564:G284E	ENSP00000267892:G282E	G	-	2	0	CDAN1	40815092	0.923000	0.31300	0.465000	0.27155	0.254000	0.26022	0.893000	0.28336	2.683000	0.91414	0.561000	0.74099	GGA		0.572	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		62	30	0	0	0	0	62	30				
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458																																						uc001zti.1		NA																	0					0						c.(1111-1113)GCC>ACC		WD repeat domain 76							160.0	152.0	155.0					15																	44143363		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44143363G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1111G>A	15.37:g.44143363G>A	ENSP00000263795:p.Ala371Thr						p.A371T	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	9	1134	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	371			WD 2.		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1111G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	8.725	0.915356	0.17907	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.59906	0.23;0.23	5.93	1.96	0.26148	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.366282	0.30068	N	0.010492	T	0.23926	0.0579	N	0.01874	-0.695	0.24408	N	0.994677	B	0.15719	0.014	B	0.19391	0.025	T	0.30357	-0.9981	10	0.05833	T	0.94	-20.812	9.0549	0.36399	0.3142:0.0:0.6858:0.0	.	371	Q9H967	WDR76_HUMAN	T	371;307	ENSP00000263795:A371T;ENSP00000370645:A307T	ENSP00000263795:A371T	A	+	1	0	WDR76	41930655	0.000000	0.05858	0.979000	0.43373	0.990000	0.78478	0.120000	0.15647	0.407000	0.25591	0.655000	0.94253	GCC		0.458	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		9	193	0	0	0	0	9	193				
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000399334.3_Silent_p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423																																						uc001zwy.2		NA																	0				lung(2)	2						c.(2233-2235)TTG>CTG		centrosomal protein 152kDa							221.0	213.0	216.0					15																	49059304		1937	4131	6068	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059304A>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2233T>C	15.37:g.49059304A>G						CEP152_uc001zwz.2_Silent_p.L745L|CEP152_uc001zxa.1_Silent_p.L652L	p.L745L	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	17	2267	-		all_lung(180;0.0428)	745			Potential.		E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.2233T>C	CCDS58361.1																																																																																				0.423	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		178	103	0	0	0	0	178	103				
MEIOB	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1894871G>C	ENST00000397344.3	-	10	1066	c.872C>G	c.(871-873)tCc>tGc	p.S291C	MEIOB_ENST00000412554.2_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	291					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										ACAATTTATGGATTCTTTGAA	0.308																																						uc002cne.2		NA																	0					0						c.(871-873)TCC>TGC		hypothetical protein LOC254528 isoform 2							46.0	46.0	46.0					16																	1894871		2192	4285	6477	SO:0001583	missense	254528				meiosis	cytoplasm		g.chr16:1894871G>C	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.872C>G	16.37:g.1894871G>C	ENSP00000380504:p.Ser291Cys					C16orf73_uc010uvq.1_Missense_Mutation_p.S291C|C16orf73_uc010uvr.1_Missense_Mutation_p.S84C	p.S291C	NM_152764	NP_689977	Q8N635	CP073_HUMAN			10	990	-			291					B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.872C>G	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565820	0.45694	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.74	4.78	0.61160	.	0.335796	0.31092	N	0.008274	T	0.26412	0.0645	M	0.64997	1.995	0.40458	D	0.98021	D;D	0.63046	0.992;0.975	P;P	0.58970	0.849;0.708	T	0.02167	-1.1202	10	0.54805	T	0.06	.	15.0221	0.71637	0.0:0.0:0.8567:0.1433	.	291;291	C9J0S1;Q8N635	.;CP073_HUMAN	C	291	ENSP00000390778:S291C;ENSP00000391033:S291C;ENSP00000314484:S291C;ENSP00000380504:S291C	ENSP00000314484:S291C	S	-	2	0	C16orf73	1834872	1.000000	0.71417	0.996000	0.52242	0.145000	0.21501	5.894000	0.69806	1.439000	0.47511	0.306000	0.20318	TCC		0.308	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		18	12	0	0	0	0	18	12				
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667																																					Ovarian(69;105 1552 17724 23473)	uc002coi.2		NA																	0				central_nervous_system(1)	1						c.(448-450)CGG>TGG		solute carrier family 9 isoform 3 regulator 2							17.0	23.0	21.0					16																	2086358		2080	4211	6291	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086358C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.448C>T	16.37:g.2086358C>T	ENSP00000408005:p.Arg150Trp					SLC9A3R2_uc002coj.2_Missense_Mutation_p.R150W|SLC9A3R2_uc002cok.2_Missense_Mutation_p.R39W	p.R150W	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN			3	567	+			150			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.448C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.302643	0.40795	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.57595	0.39;0.39	3.9	1.81	0.25067	PDZ/DHR/GLGF (1);	0.062945	0.64402	D	0.000003	T	0.75117	0.3806	M	0.91140	3.18	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77918	-0.2408	10	0.87932	D	0	-17.2234	11.4169	0.49958	0.3357:0.6643:0.0:0.0	.	185;150;150	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	W	150	ENSP00000408005:R150W;ENSP00000402857:R150W	ENSP00000408005:R150W	R	+	1	2	SLC9A3R2	2026359	0.926000	0.31397	0.698000	0.30274	0.905000	0.53344	1.998000	0.40796	0.237000	0.21200	0.306000	0.20318	CGG		0.667	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			10	11	0	0	0	0	10	11				
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562																																						uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3199-3201)GTG>TTG		integrin alpha X precursor							112.0	101.0	105.0					16																	31391868		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391868G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3199G>T	16.37:g.31391868G>T	ENSP00000268296:p.Val1067Leu					ITGAX_uc002ebt.2_Missense_Mutation_p.V1067L	p.V1067L	NM_000887	NP_000878	P20702	ITAX_HUMAN			28	3266	+			1067			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3199G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149283	0.21288	.	.	ENSG00000140678	ENST00000268296	T	0.44881	0.91	4.49	-3.95	0.04118	.	.	.	.	.	T	0.24509	0.0594	L	0.37630	1.12	0.09310	N	1	B;B	0.25486	0.127;0.077	B;B	0.21360	0.015;0.034	T	0.22765	-1.0207	9	0.21540	T	0.41	.	5.083	0.14666	0.4223:0.273:0.3047:0.0	.	1067;252	P20702;Q8TES5	ITAX_HUMAN;.	L	1067	ENSP00000268296:V1067L	ENSP00000268296:V1067L	V	+	1	0	ITGAX	31299369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.472000	0.02341	-0.575000	0.05982	-0.194000	0.12790	GTG		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		21	23	1	0	1.87e-06	1.99e-06	21	23				
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E			P78411	IRX5_HUMAN	iroquois homeobox 5	419					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637																																						uc002ehv.2		NA																	0					0						c.(1255-1257)GGA>GAA		iroquois homeobox protein 5							24.0	32.0	29.0					16																	54967589		2193	4286	6479	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967589G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1256G>A	16.37:g.54967589G>A	ENSP00000378132:p.Gly419Glu					IRX5_uc002ehw.2_Missense_Mutation_p.G353E	p.G419E	NM_005853	NP_005844	P78411	IRX5_HUMAN			3	1256	+			419					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1256G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286106	0.59867	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.51574	0.7;0.7	4.54	4.54	0.55810	.	0.232561	0.43416	D	0.000569	T	0.58524	0.2128	L	0.40543	1.245	0.58432	D	0.999999	D	0.69078	0.997	D	0.63597	0.916	T	0.59568	-0.7430	10	0.46703	T	0.11	-3.4703	17.4716	0.87647	0.0:0.0:1.0:0.0	.	419	P78411	IRX5_HUMAN	E	419;418	ENSP00000378132:G419E;ENSP00000316250:G418E	ENSP00000316250:G418E	G	+	2	0	IRX5	53525090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.500000	0.53318	2.340000	0.79590	0.650000	0.86243	GGA		0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			20	79	0	0	0	0	20	79				
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(6886-6888)AAT>AAA		CCR4-NOT transcription complex, subunit 1							185.0	174.0	178.0					16																	58557303		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58557303A>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6888T>A	16.37:g.58557303A>T	ENSP00000320949:p.Asn2296Lys					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.N2291K|CNOT1_uc002ent.2_Missense_Mutation_p.N234K|CNOT1_uc010vik.1_Missense_Mutation_p.N1253K	p.N2296K	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	47	7181	-			2296					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6888T>A	CCDS10799.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.551609|4.551609	0.86127|0.86127	.|.	.|.	ENSG00000125107|ENSG00000125107	ENST00000546037|ENST00000317147;ENST00000422872;ENST00000245138	.|T	.|0.47528	.|0.84	6.03|6.03	3.04|3.04	0.35103|0.35103	.|CCR4-Not complex component, Not1, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.743;0.957	.|D;P;P	.|0.71184	.|0.972;0.607;0.856	T|T	0.53493|0.53493	-0.8431|-0.8431	5|10	.|0.24483	.|T	.|0.36	-9.4785|-9.4785	10.0143|10.0143	0.42006|0.42006	0.2187:0.0:0.7813:0.0|0.2187:0.0:0.7813:0.0	.|.	.|1147;2296;2291	.|B5MDN3;A5YKK6;A5YKK6-2	.|.;CNOT1_HUMAN;.	K|K	301|2296;990;1147	.|ENSP00000320949:N2296K	.|ENSP00000245138:N1147K	I|N	-|-	2|3	0|2	CNOT1|CNOT1	57114804|57114804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.580000|2.580000	0.46068|0.46068	0.433000|0.433000	0.26313|0.26313	-0.242000|-0.242000	0.12053|0.12053	ATA|AAT		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		35	164	0	0	0	0	35	164				
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T	rs373811706		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CDH1_ENST00000422392.2_Silent_p.V403V|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		1	Unknown(1)		breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1390-1392)GTC>GTT		cadherin 1, type 1 preproprotein		C		0,4396		0,0,2198	170.0	142.0	152.0		1392	4.8	0.1	16		152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH1	NM_004360.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		464/883	68849489	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849489C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1392C>T	16.37:g.68849489C>T						CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.V403V	p.V464V	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1516	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	464			Cadherin 3.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1392C>T	CCDS10869.1																																																																																				0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		69	66	0	0	0	0	69	66				
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	0				kidney(2)|central_nervous_system(1)	3						c.(349-351)CTG>CTA		olfactory receptor, family 3, subfamily A,							88.0	77.0	81.0					17																	3195526		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195526C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.351G>A	17.37:g.3195526C>T							p.L117L	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	351	-			117			Helical; Name=3; (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.351G>A	CCDS11023.1																																																																																				0.597	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			40	92	0	0	0	0	40	92				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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.(796-798)GGA>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E	p.G266E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	38	0	0	0	0	18	38				
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7579521C>A	ENST00000269305.4	-	4	355	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E56*	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	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGGGTCTTCAGTGAACCAT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Substitution - Missense(3)	p.0?(7)|p.E56*(4)|p.E56K(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.E56E(1)|p.E56V(1)	upper_aerodigestive_tract(4)|bone(4)|liver(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|pancreas(2)|large_intestine(1)|stomach(1)|endometrium(1)|lung(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(166-168)GAA>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							158.0	159.0	159.0					17																	7579521		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579521C>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.166G>T	17.37:g.7579521C>A	ENSP00000269305:p.Glu56*	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_Nonsense_Mutation_p.E56*|TP53_uc002gih.2_Nonsense_Mutation_p.E56*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E56*|TP53_uc010cni.1_Nonsense_Mutation_p.E56*|TP53_uc002gij.2_Nonsense_Mutation_p.E56*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E17*|TP53_uc010cnk.1_Nonsense_Mutation_p.E71*	p.E56*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	360	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	56		E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).	TADII.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.166G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594134	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.33	0.2	0.15181	.	1.101100	0.06919	N	0.809088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0048	3.4906	0.07636	0.0:0.5368:0.2153:0.2479	.	.	.	.	X	56	.	ENSP00000269305:E56X	E	-	1	0	TP53	7520246	0.064000	0.20934	0.001000	0.08648	0.010000	0.07245	0.714000	0.25808	0.099000	0.17552	-0.264000	0.10439	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	197	1	0	9.01e-43	1.04e-42	85	197				
TBC1D26	353149	broad.mit.edu	37	17	15641646	15641646	+	Missense_Mutation	SNP	G	G	T	rs201446121		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:15641646G>T	ENST00000437605.2	+	7	582	c.332G>T	c.(331-333)tGg>tTg	p.W111L	TBC1D26_ENST00000579428.1_Missense_Mutation_p.W111L|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	111	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GGCCGGGCGTGGTCACTTTTG	0.507																																						uc010cov.2		NA																	0					0						c.(331-333)TGG>TTG		TBC1 domain family, member 26							112.0	107.0	109.0					17																	15641646		1938	4138	6076	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641646G>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.332G>T	17.37:g.15641646G>T	ENSP00000410111:p.Trp111Leu					TBC1D26_uc010cou.1_Missense_Mutation_p.W111L|TBC1D26_uc002gpb.3_RNA	p.W111L	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	7	582	+			111			Rab-GAP TBC.		A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.332G>T	CCDS42265.1	57	0.0260989010989011	11	0.022357723577235773	12	0.03314917127071823	15	0.026223776223776224	19	0.025065963060686015	a	10.49	1.365887	0.24684	.	.	ENSG00000214946	ENST00000437605	T	0.55760	0.5	1.44	0.366	0.16136	Rab-GAP/TBC domain (4);	0.000000	0.85682	U	0.000000	T	0.48554	0.1506	M	0.93106	3.38	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.991	T	0.54636	-0.8264	10	0.72032	D	0.01	.	4.0334	0.09719	0.2515:0.0:0.7485:0.0	.	111;111	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	L	111	ENSP00000410111:W111L	ENSP00000410111:W111L	W	+	2	0	TBC1D26	15582371	0.996000	0.38824	0.002000	0.10522	0.002000	0.02628	1.076000	0.30729	-0.048000	0.13401	-0.473000	0.04963	TGG		0.507	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		5	92	1	0	7.08e-05	7.42e-05	5	92				
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507																																						uc002ilg.2		NA																	0				ovary(2)	2						c.(142-144)TTC>TTT		atrial/embryonic alkali myosin light chain							205.0	178.0	187.0					17																	45291173		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45291173C>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.144C>T	17.37:g.45291173C>T						MYL4_uc002ilh.2_Silent_p.F48F	p.F48F	NM_001002841	NP_001002841	P12829	MYL4_HUMAN			3	272	+			48					D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.144C>T	CCDS11510.1																																																																																				0.507	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		84	150	0	0	0	0	84	150				
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T	rs377294616		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:76754297C>T	ENST00000537592.2	+	2	2306	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	SALL3_ENST00000575389.2_Missense_Mutation_p.T769M|SALL3_ENST00000536229.3_Missense_Mutation_p.T636M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637																																						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2305-2307)ACG>ATG		sal-like 3		C	MET/THR	0,4406		0,0,2203	67.0	62.0	64.0		2306	5.3	1.0	18		64	3,8597	3.0+/-9.4	0,3,4297	no	missense	SALL3	NM_171999.2	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	769/1301	76754297	3,13003	2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754297C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2306C>T	18.37:g.76754297C>T	ENSP00000441823:p.Thr769Met					SALL3_uc010dra.2_Missense_Mutation_p.T376M	p.T769M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2306	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	769					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2306C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334728	0.41297	0.0	3.49E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12147	2.71	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000017	T	0.41558	0.1164	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.974	T	0.35076	-0.9803	10	0.72032	D	0.01	-43.6341	18.9687	0.92707	0.0:1.0:0.0:0.0	.	501;769	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	769;769;501	ENSP00000441823:T769M	ENSP00000299466:T769M	T	+	2	0	SALL3	74855285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.755000	0.85180	2.477000	0.83638	0.561000	0.74099	ACG		0.637	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		17	28	0	0	0	0	17	28				
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587																																						uc002mjq.1		NA																	0				ovary(1)	1						c.(670-672)TGG>TGC		angiopoietin-like 4 protein isoform a precursor							39.0	39.0	39.0					19																	8435950		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8435950G>C	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.672G>C	19.37:g.8435950G>C	ENSP00000301455:p.Trp224Cys					ANGPTL4_uc002mjr.1_Missense_Mutation_p.W186C|ANGPTL4_uc010xkc.1_Missense_Mutation_p.W57C	p.W224C	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			5	867	+			224			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.672G>C	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737061	0.69304	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.53640	0.61;0.61;0.61	5.08	5.08	0.68730	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86509	0.1808	10	0.72032	D	0.01	.	11.663	0.51358	0.0865:0.0:0.9135:0.0	.	186;224	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	224;186;57	ENSP00000301455:W224C;ENSP00000377534:W186C;ENSP00000439833:W57C	ENSP00000301455:W224C	W	+	3	0	ANGPTL4	8341950	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.238000	0.95380	2.362000	0.80069	0.650000	0.86243	TGG		0.587	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		10	16	0	0	0	0	10	16				
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632																																						uc002mov.2		NA																	0					0						c.(412-414)TCG>TGG		APG4 autophagy 4 homolog D							95.0	102.0	99.0					19																	10655726		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10655726C>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.413C>G	19.37:g.10655726C>G	ENSP00000311318:p.Ser138Trp					ATG4D_uc010xlg.1_Missense_Mutation_p.S161W|ATG4D_uc010xlh.1_Missense_Mutation_p.S75W|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'UTR	p.S138W	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	533	+			138					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.413C>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764725	0.69878	.	.	ENSG00000130734	ENST00000309469	T	0.60548	0.18	4.84	4.84	0.62591	.	0.063063	0.64402	D	0.000010	T	0.79287	0.4420	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.992;0.964;0.987	D	0.83892	0.0285	10	0.87932	D	0	-14.7744	16.6843	0.85301	0.0:1.0:0.0:0.0	.	75;161;138	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	W	138	ENSP00000311318:S138W	ENSP00000311318:S138W	S	+	2	0	ATG4D	10516726	1.000000	0.71417	0.965000	0.40720	0.070000	0.16714	7.364000	0.79526	2.221000	0.72209	0.643000	0.83706	TCG		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		18	266	0	0	0	0	18	266				
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T	rs373943547		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1786-1788)GTG>ATG		C3 and PZP-like, alpha-2-macroglobulin domain		C	MET/VAL	0,3898		0,0,1949	42.0	48.0	46.0		1786	1.5	0.5	19		46	1,8275		0,1,4137	no	missense	CPAMD8	NM_015692.2	21	0,1,6086	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	596/1933	17088291	1,12173	1949	4138	6087	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088291C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1786G>A	19.37:g.17088291C>T	ENSP00000402505:p.Val596Met						p.V596M	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1818	-			549					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1786G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	13.53	2.265913	0.40095	0.0	1.21E-4	ENSG00000160111	ENST00000291440	.	.	.	2.62	1.51	0.23008	Alpha-2-macroglobulin, N-terminal 2 (1);	0.358092	0.21111	U	0.079996	T	0.61813	0.2377	M	0.85041	2.73	0.80722	D	1	D	0.55800	0.973	P	0.45998	0.5	T	0.69198	-0.5208	9	0.72032	D	0.01	.	9.1806	0.37138	0.0:0.7943:0.0:0.2057	.	549	Q8IZJ3	CPMD8_HUMAN	M	596	.	ENSP00000291440:V596M	V	-	1	0	CPAMD8	16949291	0.986000	0.35501	0.485000	0.27403	0.473000	0.32948	2.755000	0.47540	1.181000	0.42912	0.461000	0.40582	GTG		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		29	51	0	0	0	0	29	51				
NCAN	1463	broad.mit.edu	37	19	19338359	19338359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:19338359C>G	ENST00000252575.6	+	8	2029	c.1930C>G	c.(1930-1932)Cta>Gta	p.L644V	NCAN_ENST00000538881.1_Missense_Mutation_p.L95V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	644					axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L644V(2)|p.L658V(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGAGTGGATGCTACCACACCC	0.637																																						uc002nlz.2		NA																	3	Substitution - Missense(3)		prostate(3)	ovary(4)	4						c.(1930-1932)CTA>GTA		chondroitin sulfate proteoglycan 3 precursor							68.0	65.0	66.0					19																	19338359		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338359C>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1930C>G	19.37:g.19338359C>G	ENSP00000252575:p.Leu644Val					NCAN_uc010ecc.1_Missense_Mutation_p.L208V	p.L644V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2029	+			644					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1930C>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202006	0.22121	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.88046	-2.03;-2.33	4.4	-0.258	0.12975	.	1.593020	0.04363	N	0.357795	T	0.75496	0.3857	L	0.29908	0.895	0.09310	N	1	B;B	0.21821	0.061;0.004	B;B	0.10450	0.005;0.005	T	0.56529	-0.7964	10	0.17369	T	0.5	.	0.7854	0.01047	0.2125:0.4004:0.1738:0.2132	.	658;644	Q4LE67;O14594	.;NCAN_HUMAN	V	658;644;95	ENSP00000252575:L644V;ENSP00000442202:L95V	ENSP00000252575:L644V	L	+	1	2	NCAN	19199359	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.264000	0.18497	0.172000	0.19760	0.561000	0.74099	CTA		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		9	73	0	0	0	0	9	73				
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587																																						uc002qsc.2		NA																	0				pancreas(1)	1						c.(1441-1443)GTT>ATT		zinc finger and SCAN domain containing 22							64.0	56.0	59.0					19																	58850657		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850657G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1441G>A	19.37:g.58850657G>A	ENSP00000332433:p.Val481Ile					ZSCAN22_uc010yhz.1_3'UTR	p.V481I	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1588	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	481			C2H2-type 8.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1441G>A	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793639	0.16327	.	.	ENSG00000182318	ENST00000329665	T	0.06687	3.27	4.18	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	L	0.39633	1.23	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.40887	-0.9539	9	0.48119	T	0.1	.	2.7995	0.05410	0.3061:0.0:0.3574:0.3365	.	481	P10073	ZSC22_HUMAN	I	481	ENSP00000332433:V481I	ENSP00000332433:V481I	V	+	1	0	ZSCAN22	63542469	0.000000	0.05858	0.013000	0.15412	0.212000	0.24457	-0.866000	0.04245	-0.105000	0.12132	0.563000	0.77884	GTT		0.587	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		28	44	0	0	0	0	28	44				
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTCAAAAAATGGGAGGTT	0.358																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6217-6219)TTT>TCT		apolipoprotein B precursor	Atorvastatin(DB01076)						70.0	80.0	77.0					2																	21233522		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233522A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6218T>C	2.37:g.21233522A>G	ENSP00000233242:p.Phe2073Ser						p.F2073S	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6346	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2073			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6218T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376748	0.42105	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01068	5.38	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000027	T	0.06690	0.0171	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.03673	-1.1014	10	0.87932	D	0	.	14.947	0.71039	1.0:0.0:0.0:0.0	.	2073	P04114	APOB_HUMAN	S	2073	ENSP00000233242:F2073S	ENSP00000233242:F2073S	F	-	2	0	APOB	21087027	1.000000	0.71417	0.906000	0.35671	0.522000	0.34438	9.281000	0.95811	1.924000	0.55735	0.459000	0.35465	TTT		0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			59	102	0	0	0	0	59	102				
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Splice_Site	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1532C>T	c.(1531-1533)tCg>tTg	p.S511L	ADCY3_ENST00000405392.1_Splice_Site_p.S144L	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		6519	0.0		0.002	False		,,,				2504	0.0					uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(1531-1533)TCG>TTG		adenylate cyclase 3		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	87.0	79.0	82.0		1532	3.0	1.0	2	dbSNP_134	82	14,8586	10.5+/-38.8	0,14,4286	yes	missense-near-splice	ADCY3	NM_004036.3	145	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	benign	511/1145	25061315	15,12991	2203	4300	6503	SO:0001630	splice_region_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061315G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1533+1C>T	2.37:g.25061315G>A						ADCY3_uc002rfr.3_Missense_Mutation_p.S144L|ADCY3_uc010ykm.1_Missense_Mutation_p.S511L	p.S511L	NM_004036	NP_004027	O60266	ADCY3_HUMAN			7	1731	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		511			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1532C>T	CCDS1715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.768	-0.256326	0.05829	2.27E-4	0.001628	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.81659	-1.38;-1.52;-1.38;-1.33;-0.86	4.77	2.98	0.34508	.	0.606256	0.16996	N	0.191106	T	0.51210	0.1661	N	0.03608	-0.345	0.27882	N	0.939655	B;B;B	0.20887	0.028;0.049;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.45086	-0.9285	10	0.05351	T	0.99	.	6.4512	0.21903	0.3372:0.0:0.6627:0.0	.	511;511;144	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	L	511;144;486;137;267;461	ENSP00000260600:S511L;ENSP00000384484:S144L;ENSP00000410120:S137L;ENSP00000399275:S267L;ENSP00000389799:S461L	ENSP00000260600:S511L	S	-	2	0	ADCY3	24914819	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.973000	0.49264	0.609000	0.30018	-0.137000	0.14449	TCG		0.547	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		Missense_Mutation	12	67	0	0	0	0	12	67				
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C	rs200250222		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:27600997A>C	ENST00000323703.6	-	4	1239	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G	ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACTGGCACCCCCTCCAG	0.662																																						uc002rkk.2		NA																	0				ovary(1)	1						c.(1039-1041)GGT>GGG		zinc finger protein 513							35.0	47.0	43.0					2																	27600997		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600997A>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1041T>G	2.37:g.27600997A>C						ZNF513_uc002rkj.2_Silent_p.G285G	p.G347G	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1241	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.1041T>G	CCDS1751.1																																																																																				0.662	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		10	52	0	0	0	0	10	52				
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:66739354T>C	ENST00000272369.9	+	8	1273	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000488550.1_Silent_p.R272R|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000409517.1_Intron	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; dbSNP:rs61752693). {ECO:0000269|PubMed:19620614}.		angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438																																						uc002sdu.2		NA																	0					0						c.(814-816)CGT>CGC		Meis homeobox 1							57.0	61.0	60.0					2																	66739354		2088	4262	6350	SO:0001819	synonymous_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66739354T>C		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.816T>C	2.37:g.66739354T>C						MEIS1_uc002sdt.2_Silent_p.R272R|MEIS1_uc002sdv.2_Silent_p.R270R|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.R207R|MEIS1_uc002sdw.1_Silent_p.R128R	p.R272R	NM_002398	NP_002389	O00470	MEIS1_HUMAN			8	1273	+			272			Homeobox; TALE-type.		A8MV50	Silent	SNP	ENST00000272369.9	37	c.816T>C	CCDS46309.1																																																																																				0.438	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		16	14	0	0	0	0	16	14				
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.P47S	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632																																						uc002stx.1		NA																	0					0						c.(139-141)CCC>TCC		T-lymphocyte maturation-associated protein							72.0	66.0	68.0					2																	95713749		2202	4300	6502	SO:0001583	missense	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.chr2:95713749C>T		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.139C>T	2.37:g.95713749C>T	ENSP00000310880:p.Pro47Ser					MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.P47S|MAL_uc002sua.1_Intron	p.P47S	NM_002371	NP_002362	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	198	+			47			MARVEL.|Extracellular (Potential).		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.139C>T	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582677	0.28180	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.43688	1.78;0.94	5.77	4.87	0.63330	Marvel (1);MARVEL-like domain (1);	0.907664	0.09594	N	0.781185	T	0.61949	0.2388	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.969;0.988	T	0.46498	-0.9187	10	0.22109	T	0.4	.	12.6156	0.56576	0.0:0.8336:0.1664:0.0	.	47;47	P21145-2;P21145	.;MAL_HUMAN	S	47	ENSP00000310880:P47S;ENSP00000306568:P47S	ENSP00000310880:P47S	P	+	1	0	MAL	95077476	0.088000	0.21588	0.997000	0.53966	0.298000	0.27526	1.121000	0.31283	1.396000	0.46663	0.561000	0.74099	CCC		0.632	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		37	82	0	0	0	0	37	82				
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657																																						uc002syd.1		NA																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1747-1749)CGC>CGA		zeta-chain associated protein kinase 70kDa							44.0	42.0	43.0					2																	98355850		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355850C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1749C>A	2.37:g.98355850C>A						ZAP70_uc002sye.1_Silent_p.R473R|ZAP70_uc002syf.1_Silent_p.R276R	p.R583R	NM_001079	NP_001070	P43403	ZAP70_HUMAN			14	1956	+			583			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1749C>A	CCDS33254.1																																																																																				0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			22	41	1	0	3.62e-10	3.96e-10	22	41				
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338																																						uc002txi.2		NA																	0					0						c.(298-300)ATA>GTA		N-myc and STAT interactor							105.0	101.0	102.0					2																	152135384		2203	4299	6502	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152135384T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.298A>G	2.37:g.152135384T>C	ENSP00000243346:p.Ile100Val					NMI_uc010zbx.1_Missense_Mutation_p.I100V|NMI_uc002txj.2_Missense_Mutation_p.I68V	p.I100V	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	4	628	-			100					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.298A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342741	0.24339	.	.	ENSG00000123609	ENST00000243346	T	0.05717	3.4	5.4	2.12	0.27331	Nucleotide-binding, alpha-beta plait (1);Interferon induced 35kDa, N-terminal (1);	0.239136	0.35772	N	0.002995	T	0.02533	0.0077	N	0.03608	-0.345	0.21220	N	0.999759	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.40156	-0.9578	10	0.52906	T	0.07	-2.1945	4.5288	0.11995	0.0938:0.1519:0.5971:0.1573	.	100;100	B4DQD4;Q13287	.;NMI_HUMAN	V	100	ENSP00000243346:I100V	ENSP00000243346:I100V	I	-	1	0	NMI	151843630	0.992000	0.36948	0.998000	0.56505	0.342000	0.28953	0.106000	0.15354	0.641000	0.30601	-0.202000	0.12741	ATA		0.338	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		19	51	0	0	0	0	19	51				
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179501212C>G	ENST00000591111.1	-	175	36543	c.36319G>C	c.(36319-36321)Gtt>Ctt	p.V12107L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13748L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L			Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAGTTGAACATCAATGATG	0.418																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(33538-33540)GTT>CTT		titin isoform N2-A							97.0	92.0	93.0					2																	179501212		1852	4109	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501212C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36319G>C	2.37:g.179501212C>G	ENSP00000465570:p.Val12107Leu					TTN_uc010zfh.1_Missense_Mutation_p.V4875L|TTN_uc010zfi.1_Missense_Mutation_p.V4808L|TTN_uc010zfj.1_Missense_Mutation_p.V4683L|TTN_uc010fre.1_Missense_Mutation_p.V1041L	p.V11180L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33762	-			12107					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33538G>C		.	.	.	.	.	.	.	.	.	.	C	12.43	1.934854	0.34189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82453	0.5040	L	0.55743	1.74	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.83119	-0.0119	9	0.87932	D	0	.	19.9446	0.97177	0.0:1.0:0.0:0.0	.	4683;4808;4875;12107	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11180;4683;4875;4808;4683	ENSP00000343764:V11180L;ENSP00000434586:V4683L;ENSP00000340554:V4875L;ENSP00000352154:V4808L	ENSP00000340554:V4875L	V	-	1	0	TTN	179209457	1.000000	0.71417	0.952000	0.39060	0.123000	0.20343	7.768000	0.85345	2.714000	0.92807	0.644000	0.83932	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	161	0	0	0	0	30	161				
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179597359T>C	ENST00000591111.1	-	54	15702	c.15478A>G	c.(15478-15480)Act>Gct	p.T5160A	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T5477A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A			Q8WZ42	TITIN_HUMAN	titin	12528	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGAGGAGTAGATCCTTGG	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12697-12699)ACT>GCT		titin isoform N2-A							66.0	65.0	65.0					2																	179597359		1866	4115	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597359T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15478A>G	2.37:g.179597359T>C	ENSP00000465570:p.Thr5160Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T894A	p.T4233A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	12921	-			5160					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12697A>G		.	.	.	.	.	.	.	.	.	.	T	9.263	1.043778	0.19748	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	6.06	-1.11	0.09840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40119	0.1104	N	0.03930	-0.32	0.21740	N	0.999564	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.87932	D	0	.	8.2189	0.31530	0.0:0.3033:0.1006:0.5962	.	5160	Q8WZ42	TITIN_HUMAN	A	4233	ENSP00000343764:T4233A	ENSP00000343764:T4233A	T	-	1	0	TTN	179305604	0.055000	0.20627	0.048000	0.18961	0.969000	0.65631	0.337000	0.19841	-0.417000	0.07461	0.533000	0.62120	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	67	0	0	0	0	23	67				
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:203745631T>C	ENST00000261015.4	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323																																						uc002uzl.2		NA																	0					0						c.(1222-1224)AAA>AAG		WD repeat domain 12 protein							60.0	57.0	58.0					2																	203745631		2203	4298	6501	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203745631T>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1224A>G	2.37:g.203745631T>C						WDR12_uc010ftt.2_3'UTR	p.K408K	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			13	1974	-			408			Sufficient for nucleolar localization.|WD 7.			Silent	SNP	ENST00000261015.4	37	c.1224A>G	CCDS2356.1																																																																																				0.323	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		28	23	0	0	0	0	28	23				
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:225662626T>A	ENST00000258390.7	-	42	4634	c.4567A>T	c.(4567-4569)Atg>Ttg	p.M1523L	DOCK10_ENST00000409592.3_Missense_Mutation_p.M1517L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(4567-4569)ATG>TTG		dedicator of cytokinesis 10							135.0	132.0	133.0					2																	225662626		1917	4138	6055	SO:0001583	missense	55619						GTP binding	g.chr2:225662626T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4567A>T	2.37:g.225662626T>A	ENSP00000258390:p.Met1523Leu					DOCK10_uc002vob.2_Missense_Mutation_p.M1517L|DOCK10_uc002voa.2_Missense_Mutation_p.M179L|DOCK10_uc002voc.2_Missense_Mutation_p.M377L	p.M1523L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4806	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1523					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4567A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083235	0.08533	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.52057	0.68;0.68	5.95	3.61	0.41365	.	0.102804	0.64402	D	0.000002	T	0.13670	0.0331	N	0.01096	-1.015	0.35367	D	0.788767	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33979	-0.9847	10	0.02654	T	1	.	6.9035	0.24295	0.2031:0.0:0.1848:0.6121	.	1523;377;1517;185	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1517;1523;61	ENSP00000386694:M1517L;ENSP00000258390:M1523L	ENSP00000258390:M1523L	M	-	1	0	DOCK10	225370870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.324000	0.43831	2.279000	0.76181	0.533000	0.62120	ATG		0.408	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			51	58	0	0	0	0	51	58				
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582																																						uc002vvp.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	skin(3)|ovary(1)	4						c.(2359-2361)TGC>TGA		SH3-domain binding protein 4							36.0	37.0	37.0					2																	235951774		2203	4300	6503	SO:0001587	stop_gained	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951774C>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2361C>A	2.37:g.235951774C>A	ENSP00000386862:p.Cys787*					SH3BP4_uc010fym.2_Nonsense_Mutation_p.C787*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.C787*	p.C787*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2754	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	787					O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	c.2361C>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	43	9.909633	0.99293	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528;ENST00000538289	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.4864	10.41	0.44287	0.0:0.9099:0.0:0.0901	.	.	.	.	X	787;787;787;25	.	ENSP00000340237:C787X	C	+	3	2	SH3BP4	235616513	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.596000	0.36718	2.284000	0.76573	0.655000	0.94253	TGC		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			13	15	1	0	1.68e-08	1.82e-08	13	15				
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617																																						uc002wwt.1		NA																	0				ovary(1)	1						c.(751-753)CGG>TGG		forkhead box S1							25.0	27.0	26.0					20																	30432595		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432595G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.751C>T	20.37:g.30432595G>A	ENSP00000365145:p.Arg251Trp						p.R251W	NM_004118	NP_004109	O43638	FOXS1_HUMAN			1	826	-			251					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.751C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059308	0.55325	.	.	ENSG00000179772	ENST00000375978	D	0.94092	-3.35	4.54	4.54	0.55810	.	0.000000	0.44285	D	0.000468	D	0.93311	0.7868	L	0.32530	0.975	0.38527	D	0.948869	D	0.89917	1.0	D	0.64687	0.928	D	0.94043	0.7311	10	0.72032	D	0.01	.	11.2697	0.49131	0.0:0.0:0.8173:0.1827	.	251	O43638	FOXS1_HUMAN	W	251	ENSP00000365145:R251W	ENSP00000365145:R251W	R	-	1	2	FOXS1	29896256	0.954000	0.32549	1.000000	0.80357	0.873000	0.50193	1.946000	0.40283	2.350000	0.79820	0.462000	0.41574	CGG		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		13	47	0	0	0	0	13	47				
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(4078-4080)AAG>AAC		ADP-ribosylation factor guanine							142.0	122.0	129.0					20																	47630398		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47630398G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4080G>C	20.37:g.47630398G>C	ENSP00000360985:p.Lys1360Asn					ARFGEF2_uc010zyf.1_Missense_Mutation_p.K653N	p.K1360N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		30	4232	+			1360					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4080G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281051	0.80692	.	.	ENSG00000124198	ENST00000371917	T	0.58797	0.31	5.6	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.101742	0.64402	D	0.000002	T	0.72317	0.3445	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74535	-0.3633	10	0.66056	D	0.02	.	10.5788	0.45244	0.1475:0.0:0.8525:0.0	.	1360	Q9Y6D5	BIG2_HUMAN	N	1360	ENSP00000360985:K1360N	ENSP00000360985:K1360N	K	+	3	2	ARFGEF2	47063805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.596000	0.54024	1.357000	0.45904	0.491000	0.48974	AAG		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		42	153	0	0	0	0	42	153				
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Splice_Site	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.649T>C	c.(649-651)Ttt>Ctt	p.F217L		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602																																						uc003aka.2		NA																	0					0						c.(649-651)TTT>CTT		phospholipase A2, group III precursor							65.0	53.0	57.0					22																	31534395		2203	4300	6503	SO:0001630	splice_region_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534395A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.648-1T>C	22.37:g.31534395A>G							p.F217L	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			3	778	-			217			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.649T>C	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067492	0.76301	.	.	ENSG00000100078	ENST00000215885	T	0.30448	1.53	5.32	5.32	0.75619	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	T	0.50360	0.1611	L	0.52759	1.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	10	0.56958	D	0.05	-15.3715	15.5719	0.76345	1.0:0.0:0.0:0.0	.	217	Q9NZ20	PA2G3_HUMAN	L	217	ENSP00000215885:F217L	ENSP00000215885:F217L	F	-	1	0	PLA2G3	29864395	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	8.471000	0.90403	2.142000	0.66516	0.459000	0.35465	TTT		0.602	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	Missense_Mutation	11	51	0	0	0	0	11	51				
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:37491963T>C	ENST00000346753.3	-	5	715	c.599A>G	c.(598-600)gAg>gGg	p.E200G	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647																																						uc003aqs.1		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(598-600)GAG>GGG		transmembrane protease, serine 6							74.0	63.0	67.0					22																	37491963		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491963T>C	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.599A>G	22.37:g.37491963T>C	ENSP00000334962:p.Glu200Gly					TMPRSS6_uc003aqt.1_Missense_Mutation_p.E191G|TMPRSS6_uc003aqu.2_Missense_Mutation_p.E191G	p.E200G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			5	713	-			200			Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.599A>G	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	4.091	0.014859	0.07959	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92099	-2.97;-2.97;-2.97;-2.97;-0.91	4.98	3.88	0.44766	.	0.667620	0.14826	N	0.296163	T	0.81861	0.4912	N	0.11427	0.14	0.26820	N	0.968802	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.70799	-0.4774	10	0.34782	T	0.22	.	7.8104	0.29228	0.0:0.1357:0.0:0.8643	.	200;191;200	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	G	191;200;191;191;200	ENSP00000371211:E191G;ENSP00000334962:E200G;ENSP00000385453:E191G;ENSP00000384964:E191G;ENSP00000397691:E200G	ENSP00000334962:E200G	E	-	2	0	TMPRSS6	35821909	0.950000	0.32346	1.000000	0.80357	0.026000	0.11368	1.672000	0.37523	1.863000	0.54032	0.379000	0.24179	GAG		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		36	81	0	0	0	0	36	81				
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000451445.2_Missense_Mutation_p.P210L|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343																																						uc003caf.2		NA																	0					0						c.(874-876)CCT>CTT		2-hydroxyphytanoyl-CoA lyase							80.0	81.0	81.0					3																	15616518		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15616518G>A	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.875C>T	3.37:g.15616518G>A	ENSP00000323811:p.Pro292Leu					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.P265L|HACL1_uc011avt.1_Missense_Mutation_p.P266L|HACL1_uc003cag.2_Intron|HACL1_uc011avu.1_Missense_Mutation_p.P210L|HACL1_uc010hep.2_Intron	p.P292L	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			10	1035	-			292					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.875C>T	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345608	0.95807	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	5.34	0.76211	Thiamine pyrophosphate enzyme, central domain (1);	0.048308	0.85682	D	0.000000	T	0.57169	0.2035	L	0.38649	1.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.992;0.996	D;P;D;D	0.91635	0.999;0.898;0.943;0.972	T	0.55140	-0.8187	10	0.46703	T	0.11	.	19.407	0.94651	0.0:0.0:1.0:0.0	.	210;266;265;292	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	L	292;210;265;266	ENSP00000323811:P292L;ENSP00000403656:P210L;ENSP00000390699:P265L;ENSP00000404883:P266L	ENSP00000323811:P292L	P	-	2	0	HACL1	15591522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.879000	0.87236	2.649000	0.89929	0.557000	0.71058	CCT		0.343	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		18	18	0	0	0	0	18	18				
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3871-3873)CTA>GTA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							73.0	78.0	76.0					3																	121207907		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207907G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3871C>G	3.37:g.121207907G>C	ENSP00000264233:p.Leu1291Val					POLQ_uc003eed.2_Missense_Mutation_p.L463V	p.L1291V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4000	-			1291					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3871C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.740105	0.00088	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.40756	1.02	5.45	-3.44	0.04796	.	1.532230	0.03403	N	0.203611	T	0.17195	0.0413	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36383	-0.9750	10	0.02654	T	1	.	9.2554	0.37579	0.0:0.6127:0.1549:0.2324	.	1291;463	O75417;O75417-2	DPOLQ_HUMAN;.	V	914;1291;1427	ENSP00000264233:L1291V	ENSP00000264233:L1291V	L	-	1	2	POLQ	122690597	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.920000	0.04013	-0.458000	0.07023	-0.457000	0.05445	CTA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		64	200	0	0	0	0	64	200				
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A	rs368230765		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:122645415G>A	ENST00000357599.3	-	9	1346	c.960C>T	c.(958-960)cgC>cgT	p.R320R	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(958-960)CGC>CGT		semaphorin 5B isoform 1		G		1,4405	2.1+/-5.4	0,1,2202	54.0	46.0	48.0		960	-4.8	0.8	3		48	0,8600		0,0,4300	no	coding-synonymous	SEMA5B	NM_001031702.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		320/1152	122645415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645415G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.960C>T	3.37:g.122645415G>A						SEMA5B_uc011bju.1_Silent_p.R262R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R320R|SEMA5B_uc010hro.1_Silent_p.R262R|SEMA5B_uc010hrp.1_RNA	p.R320R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1264	-			320			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.960C>T	CCDS35491.1																																																																																				0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		19	58	0	0	0	0	19	58				
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTAGCACTTGTTCAGGGAAA	0.333																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(826-828)CAA>GAA		phosphoinositide-3-kinase, regulatory subunit 4							120.0	129.0	126.0					3																	130454754		2203	4299	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130454754G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.826C>G	3.37:g.130454754G>C	ENSP00000349205:p.Gln276Glu						p.Q276E	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			3	1407	-			276			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.826C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514402	0.44763	.	.	ENSG00000196455	ENST00000356763	T	0.64085	-0.08	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Armadillo-like helical (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054630	0.85682	D	0.000000	T	0.47544	0.1451	N	0.19112	0.55	0.49299	D	0.99977	B	0.19200	0.034	B	0.23018	0.043	T	0.46190	-0.9209	10	0.05351	T	0.99	-22.0925	20.1553	0.98111	0.0:0.0:1.0:0.0	.	276	Q99570	PI3R4_HUMAN	E	276	ENSP00000349205:Q276E	ENSP00000349205:Q276E	Q	-	1	0	PIK3R4	131937444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.838000	0.97847	0.591000	0.81541	CAA		0.333	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		44	182	0	0	0	0	44	182				
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000422248.2_Silent_p.R535R|MED12L_ENST00000309237.4_Silent_p.R535R|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Silent_p.R395R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1603-1605)AGG>AGA		mediator of RNA polymerase II transcription,							113.0	97.0	102.0					3																	150903227		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150903227G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1605G>A	3.37:g.150903227G>A						MED12L_uc011bnz.1_Silent_p.R395R|MED12L_uc003eyn.2_Silent_p.R535R|MED12L_uc003eyo.2_Silent_p.R535R	p.R535R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		11	1643	+			535					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1605G>A	CCDS33876.1																																																																																				0.478	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		20	51	0	0	0	0	20	51				
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCAAGACATCGTCTTCCACA	0.592																																						uc003gmb.3		NA																	2	Substitution - Missense(2)		endometrium(1)|kidney(1)	skin(1)	1						c.(1198-1200)ATC>ATG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						97.0	78.0	84.0					4																	9784853		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784853C>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1200C>G	4.37:g.9784853C>G	ENSP00000306129:p.Ile400Met						p.I400M	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1596	+			400			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1200C>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.397995	0.04865	.	.	ENSG00000169676	ENST00000304374	T	0.65364	-0.15	4.73	-9.46	0.00597	.	0.191884	0.44688	D	0.000429	T	0.27098	0.0664	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.04650	-1.0936	10	0.33141	T	0.24	.	5.418	0.16384	0.1584:0.2933:0.4256:0.1227	.	400	P21918	DRD5_HUMAN	M	400	ENSP00000306129:I400M	ENSP00000306129:I400M	I	+	3	3	DRD5	9393951	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.589000	0.00900	-1.894000	0.01105	-1.614000	0.00798	ATC		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	66	0	0	0	0	3	66				
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G	rs368833417		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338																																						uc003hfg.1		NA																	0					0						c.(28-30)CTT>CTG		submaxillary gland androgen regulated protein 3							184.0	167.0	173.0					4																	71227862		2203	4297	6500	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71227862T>G	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.30T>G	4.37:g.71227862T>G						SMR3B_uc011cas.1_Silent_p.L10L	p.L10L	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			2	111	+		all_hematologic(202;0.196)	10						Silent	SNP	ENST00000226460.4	37	c.30T>G	CCDS34000.1																																																																																				0.338	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		60	187	0	0	0	0	60	187				
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716																																						uc003hhf.2		NA																	0					0						c.(88-90)CCG>CCA		chemokine (C-X-C motif) ligand 6 (granulocyte							14.0	18.0	17.0					4																	74702557		2187	4279	6466	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702557G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.90G>A	4.37:g.74702557G>A						IL8_uc011cbh.1_Intron	p.P30P	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	285	+	Breast(15;0.00102)		30					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.90G>A	CCDS3560.1																																																																																				0.716	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		3	56	0	0	0	0	3	56				
STPG2	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:98480263G>T	ENST00000295268.3	-	11	1415	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	442																	TTTTCTCCTGGGATATCTGTT	0.279																																						uc003htt.1		NA																	0					0						c.(1324-1326)TCC>TCA		hypothetical protein LOC285555							70.0	79.0	76.0					4																	98480263		2201	4293	6494	SO:0001819	synonymous_variant	285555							g.chr4:98480263G>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1326C>A	4.37:g.98480263G>T							p.S442S	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	11	1416	-			442						Silent	SNP	ENST00000295268.3	37	c.1326C>A	CCDS3645.1																																																																																				0.279	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		64	75	1	0	3.87e-20	4.38e-20	64	75				
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2275-2277)TAT>TGT		fragile site-associated protein							158.0	148.0	151.0					4																	123140523		1837	4084	5921	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140523A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2276A>G	4.37:g.123140523A>G	ENSP00000264501:p.Tyr759Cys					KIAA1109_uc003iei.1_Missense_Mutation_p.Y513C|KIAA1109_uc010ins.1_Missense_Mutation_p.Y103C|KIAA1109_uc003iej.1_Missense_Mutation_p.Y144C	p.Y759C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			19	2321	+			759					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2276A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201581	0.79015	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.24151	2.46;2.46;1.87	5.82	5.82	0.92795	.	1.915110	0.03160	N	0.169155	T	0.54870	0.1885	L	0.55481	1.735	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.01748	-1.1282	10	0.62326	D	0.03	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	759;759	Q2LD37-5;Q2LD37	.;K1109_HUMAN	C	759	ENSP00000264501:Y759C;ENSP00000373390:Y759C;ENSP00000389925:Y759C	ENSP00000264501:Y759C	Y	+	2	0	KIAA1109	123359973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.262000	0.95591	2.221000	0.72209	0.528000	0.53228	TAT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		73	209	0	0	0	0	73	209				
TMEM154	201799	broad.mit.edu	37	4	153601078	153601078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:153601078G>A	ENST00000304385.3	-	1	239	c.8C>T	c.(7-9)gCt>gTt	p.A3V	TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	3						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGCGCGGGGAGCCTGCATGTC	0.642																																						uc003imw.1		NA																	0					0						c.(7-9)GCT>GTT		transmembrane protein 154 precursor							11.0	14.0	13.0					4																	153601078		2190	4285	6475	SO:0001583	missense	201799					integral to membrane		g.chr4:153601078G>A	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.8C>T	4.37:g.153601078G>A	ENSP00000302144:p.Ala3Val						p.A3V	NM_152680	NP_689893	Q6P9G4	TM154_HUMAN			1	114	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	3					Q8WUT7|Q96MQ8	Missense_Mutation	SNP	ENST00000304385.3	37	c.8C>T	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888336	0.72524	.	.	ENSG00000170006	ENST00000304385;ENST00000504064	T;T	0.39592	1.07;1.08	6.07	3.35	0.38373	.	1.186530	0.06259	N	0.693550	T	0.30262	0.0759	N	0.19112	0.55	0.09310	N	1	P	0.34724	0.465	B	0.32583	0.148	T	0.29640	-1.0005	10	0.87932	D	0	-17.071	7.8613	0.29511	0.084:0.311:0.605:0.0	.	3	Q6P9G4	TM154_HUMAN	V	3	ENSP00000302144:A3V;ENSP00000422156:A3V	ENSP00000302144:A3V	A	-	2	0	TMEM154	153820528	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.405000	0.21015	0.407000	0.25591	-0.175000	0.13238	GCT		0.642	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680		5	14	0	0	0	0	5	14				
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(2698-2700)TCA>TTA		membrane-associated ring finger (C3HC4) 6							230.0	182.0	198.0					5																	10433762		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10433762C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2699C>T	5.37:g.10433762C>T	ENSP00000274140:p.Ser900Leu					MARCH6_uc011cmu.1_Missense_Mutation_p.S852L|MARCH6_uc003jeu.1_Missense_Mutation_p.S598L|MARCH6_uc011cmv.1_Missense_Mutation_p.S795L|uc003jev.1_5'Flank	p.S900L	NM_005885	NP_005876	O60337	MARH6_HUMAN			26	2882	+			900			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2699C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182969	0.57800	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.45668	1.9;0.89;1.9;0.89	5.61	5.61	0.85477	.	0.398607	0.29972	N	0.010730	T	0.36635	0.0974	L	0.33485	1.01	0.37981	D	0.933598	B;B;B;B	0.11235	0.004;0.002;0.004;0.002	B;B;B;B	0.16289	0.015;0.003;0.015;0.007	T	0.16394	-1.0404	10	0.25751	T	0.34	-4.6422	19.6512	0.95812	0.0:1.0:0.0:0.0	.	795;852;480;900	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	L	852;795;900;598	ENSP00000414643:S852L;ENSP00000425930:S795L;ENSP00000274140:S900L;ENSP00000424512:S598L	ENSP00000274140:S900L	S	+	2	0	MARCH6	10486762	1.000000	0.71417	0.702000	0.30337	0.426000	0.31534	7.131000	0.77243	2.646000	0.89796	0.563000	0.77884	TCA		0.443	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		23	54	0	0	0	0	23	54				
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(505-507)CCG>CTG		catenin (cadherin-associated protein), delta 2							79.0	80.0	80.0					5																	11397249		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11397249G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.506C>T	5.37:g.11397249G>A	ENSP00000307134:p.Pro169Leu					CTNND2_uc010itt.2_Missense_Mutation_p.P78L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	p.P169L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			6	651	-			169					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.506C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054919	0.75960	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598;ENST00000508761	T;T;T	0.76060	-0.93;-0.99;-0.9	5.91	5.91	0.95273	.	0.178818	0.37178	N	0.002205	T	0.65417	0.2689	L	0.34521	1.04	0.80722	D	1	B	0.33748	0.423	B	0.23716	0.048	T	0.63256	-0.6678	10	0.38643	T	0.18	-11.2873	20.2983	0.98569	0.0:0.0:1.0:0.0	.	169	Q9UQB3	CTND2_HUMAN	L	169;169;78;78;155	ENSP00000307134:P169L;ENSP00000352661:P169L;ENSP00000426510:P78L	ENSP00000307134:P169L	P	-	2	0	CTNND2	11450249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.802000	0.96397	0.655000	0.94253	CCG		0.587	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	74	0	0	0	0	44	74				
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303																																						uc003kuy.2		NA																	0					0						c.(1564-1566)AGA>ACA		solute carrier family 27 (fatty acid							49.0	50.0	50.0					5																	128365282		2200	4289	6489	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128365282G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1565G>C	5.37:g.128365282G>C	ENSP00000262462:p.Arg522Thr					SLC27A6_uc003kuz.2_Missense_Mutation_p.R522T	p.R522T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	10	1961	+		all_cancers(142;0.0483)|Prostate(80;0.055)	522					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1565G>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728261	0.48833	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.48836	0.8;0.8;0.8	4.43	2.03	0.26663	.	0.147063	0.56097	D	0.000036	T	0.67297	0.2878	H	0.97940	4.11	0.25662	N	0.985994	P	0.39903	0.694	P	0.45310	0.476	T	0.65578	-0.6134	9	.	.	.	-20.4553	9.3746	0.38275	0.8648:0.0:0.1352:0.0	.	522	Q9Y2P4	S27A6_HUMAN	T	522	ENSP00000262462:R522T;ENSP00000378684:R522T;ENSP00000421024:R522T	.	R	+	2	0	SLC27A6	128393181	0.999000	0.42202	0.999000	0.59377	0.963000	0.63663	3.059000	0.49947	0.459000	0.27016	-0.781000	0.03364	AGA		0.303	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		23	67	0	0	0	0	23	67				
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488																																						uc003lbo.2		NA																	0				ovary(1)	1						c.(358-360)GGG>GGA		sparc/osteonectin, cwcv and kazal-like domains							82.0	80.0	81.0					5																	136448238		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136448238C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.360G>A	5.37:g.136448238C>T						SPOCK1_uc003lbp.2_Silent_p.G120G	p.G120G	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	551	-			120					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.360G>A	CCDS4191.1																																																																																				0.488	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		22	70	0	0	0	0	22	70				
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:4892155A>T	ENST00000328908.5	+	4	526	c.395A>T	c.(394-396)aAt>aTt	p.N132I	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_De_novo_Start_OutOfFrame|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	132	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483																																						uc003mwi.2		NA																	0					0						c.(394-396)AAT>ATT		chromodomain protein, Y chromosome-like isoform							164.0	175.0	171.0					6																	4892155		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892155A>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.395A>T	6.37:g.4892155A>T	ENSP00000330512:p.Asn132Ile					CDYL_uc003mwj.2_Missense_Mutation_p.N78I|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	p.N132I	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	526	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	132					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.395A>T		.	.	.	.	.	.	.	.	.	.	A	26.6	4.755209	0.89843	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.57907	0.78;0.37	5.79	5.79	0.91817	.	0.120167	0.56097	D	0.000040	T	0.64136	0.2571	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.933;1.0	P;D	0.71184	0.786;0.972	T	0.69254	-0.5193	10	0.87932	D	0	.	15.3199	0.74112	1.0:0.0:0.0:0.0	.	78;132	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	I	132;78	ENSP00000330512:N132I;ENSP00000380718:N78I	ENSP00000330512:N132I	N	+	2	0	CDYL	4837154	1.000000	0.71417	0.950000	0.38849	0.989000	0.77384	4.726000	0.61986	2.205000	0.71048	0.528000	0.53228	AAT		0.483	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		41	45	0	0	0	0	41	45				
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403																																						uc003njj.2		NA																	0				ovary(1)	1						c.(973-975)CAG>CGG		zinc finger protein 184							50.0	51.0	51.0					6																	27420364		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420364T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.974A>G	6.37:g.27420364T>C	ENSP00000211936:p.Gln325Arg					ZNF184_uc010jqv.2_Missense_Mutation_p.Q325R|ZNF184_uc003nji.2_Missense_Mutation_p.Q325R	p.Q325R	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1785	-			325			C2H2-type 4.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.974A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.459962	0.26248	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.07327	3.2;3.2	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478134	0.17935	N	0.157021	T	0.01254	0.0041	N	0.01649	-0.78	0.28089	N	0.931899	B	0.25441	0.126	B	0.19946	0.027	T	0.45760	-0.9239	10	0.49607	T	0.09	.	12.6228	0.56614	0.0:0.0:0.0:1.0	.	325	Q99676	ZN184_HUMAN	R	325;325;325;13	ENSP00000211936:Q325R;ENSP00000366636:Q325R	ENSP00000211936:Q325R	Q	-	2	0	ZNF184	27528343	0.061000	0.20836	1.000000	0.80357	0.998000	0.95712	0.763000	0.26517	2.148000	0.66965	0.455000	0.32223	CAG		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		32	42	0	0	0	0	32	42				
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512																																						uc003nky.2		NA																	0				ovary(4)	4						c.(724-726)CTC>CTG		piggyBac transposable element derived 1							112.0	104.0	107.0					6																	28264676		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264676C>G	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.726C>G	6.37:g.28264676C>G						PGBD1_uc003nkz.2_Silent_p.L242L	p.L242L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			5	1096	+			242					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.726C>G	CCDS4648.1																																																																																				0.512	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	80	0	0	0	0	4	80				
MUC21	394263	broad.mit.edu	37	6	30954534	30954534	+	Silent	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:30954534T>A	ENST00000376296.3	+	2	823	c.582T>A	c.(580-582)acT>acA	p.T194T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	194	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T194T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGCCAGCACTGCCACCAACT	0.612																																						uc003nsh.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(580-582)ACT>ACA		mucin 21 precursor							178.0	168.0	171.0					6																	30954534		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954534T>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.582T>A	6.37:g.30954534T>A						MUC21_uc003nsi.1_RNA	p.T194T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	833	+			194			Ser-rich.|28 X 15 AA approximate tandem repeats.|11.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.582T>A	CCDS34388.1																																																																																				0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		9	197	0	0	0	0	9	197				
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:86328538T>C	ENST00000369622.3	-	10	1778	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000355238.6_Silent_p.Q426Q	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308																																						uc003pla.2		NA																	0				ovary(2)	2						c.(1276-1278)CAA>CAG		synaptotagmin binding, cytoplasmic RNA							25.0	25.0	25.0					6																	86328538		2187	4286	6473	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86328538T>C	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1278A>G	6.37:g.86328538T>C						SYNCRIP_uc003pku.2_Silent_p.Q426Q|SYNCRIP_uc003pkw.2_Silent_p.Q391Q|SYNCRIP_uc003pky.2_Silent_p.Q328Q|SYNCRIP_uc003pkv.2_Silent_p.Q426Q|SYNCRIP_uc003pkx.2_Silent_p.Q274Q|SYNCRIP_uc003pkz.2_Silent_p.Q391Q	p.Q426Q	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	10	1819	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	426			Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.1278A>G	CCDS5005.1																																																																																				0.308	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		7	19	0	0	0	0	7	19				
EPHA7	2045	broad.mit.edu	37	6	93956564	93956565	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956564_93956565TC>AA	ENST00000369303.4	-	15	2855_2856	c.2671_2672GA>TT	c.(2671-2673)GAc>TTc	p.D891F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCCA	0.431																																						uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2671-2673)GAC>TTC		ephrin receptor EphA7 precursor																																				SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956564_93956565TC>AA	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2671_2672delinsAA	6.37:g.93956564_93956565delinsAA	ENSP00000358309:p.Asp891Phe					EPHA7_uc003pof.2_Missense_Mutation_p.D886F|EPHA7_uc011eac.1_Missense_Mutation_p.D887F	p.D891F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2912_2913	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	891			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	DNP	ENST00000369303.4	37	c.2671_2672GA>TT	CCDS5031.1																																																																																				0.431	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			44	112	0	0	0	0	44	112				
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(49-51)ATT>GTT		fucosyltransferase 9 (alpha (1,3)							91.0	93.0	92.0					6																	96651080		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651080A>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.49A>G	6.37:g.96651080A>G	ENSP00000302599:p.Ile17Val						p.I17V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	390	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	17			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.49A>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.011847	0.00422	.	.	ENSG00000172461	ENST00000302103	T	0.20738	2.05	5.58	-1.48	0.08745	.	0.407076	0.29314	N	0.012505	T	0.01940	0.0061	N	0.14661	0.345	0.27963	N	0.936695	B	0.18013	0.025	B	0.13407	0.009	T	0.41875	-0.9484	10	0.08381	T	0.77	-3.4396	3.6231	0.08103	0.41:0.0:0.2047:0.3853	.	17	Q9Y231	FUT9_HUMAN	V	17	ENSP00000302599:I17V	ENSP00000302599:I17V	I	+	1	0	FUT9	96757801	0.311000	0.24536	0.752000	0.31206	0.283000	0.27025	-0.082000	0.11304	-0.396000	0.07703	-1.093000	0.02169	ATT		0.423	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		69	119	0	0	0	0	69	119				
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647																																						uc003prx.2		NA																	0				ovary(1)	1						c.(1129-1131)GGC>GAC		sine oculis binding protein homolog							73.0	81.0	78.0					6																	107955178		2026	4181	6207	SO:0001583	missense	55084						metal ion binding	g.chr6:107955178G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1130G>A	6.37:g.107955178G>A	ENSP00000318900:p.Gly377Asp						p.G377D	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1634	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	377			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1130G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080010	0.76528	.	.	ENSG00000112320	ENST00000317357	T	0.33865	1.39	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12091	-1.0561	10	0.30078	T	0.28	-10.5217	19.3015	0.94145	0.0:0.0:1.0:0.0	.	377	A7XYQ1	SOBP_HUMAN	D	377	ENSP00000318900:G377D	ENSP00000318900:G377D	G	+	2	0	SOBP	108061871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.552000	0.86080	0.561000	0.74099	GGC		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		47	97	0	0	0	0	47	97				
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:111912597G>A	ENST00000340026.6	-	3	1314	c.720C>T	c.(718-720)ctC>ctT	p.L240L	TRAF3IP2_ENST00000368761.5_Silent_p.L231L|TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																						uc011ebc.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(691-693)CTC>CTT		TRAF3 interacting protein 2 isoform 2							72.0	75.0	74.0					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912597G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>T	6.37:g.111912597G>A						TRAF3IP2_uc003pvg.2_Silent_p.L231L|TRAF3IP2_uc003pvf.2_Silent_p.L231L|TRAF3IP2_uc010kdw.2_Silent_p.L231L|TRAF3IP2_uc010kdx.2_Silent_p.L231L	p.L231L	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	1308	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	240					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.693C>T																																																																																					0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			62	99	0	0	0	0	62	99				
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2341-2343)AAG>CAG		utrophin							61.0	67.0	65.0					6																	144779962		2202	4300	6502	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144779962A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2341A>C	6.37:g.144779962A>C	ENSP00000356515:p.Lys781Gln					UTRN_uc010khq.1_Missense_Mutation_p.K781Q	p.K781Q	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2433	+		Ovarian(120;0.218)	781			Interaction with SYNM.|Spectrin 5.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2341A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257769	0.39896	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.33865	1.39	5.53	5.53	0.82687	.	0.121611	0.36444	N	0.002597	T	0.17408	0.0418	L	0.32530	0.975	0.80722	D	1	P	0.52577	0.954	B	0.43809	0.432	T	0.02829	-1.1105	10	0.13853	T	0.58	.	15.9613	0.79933	1.0:0.0:0.0:0.0	.	781	P46939	UTRO_HUMAN	Q	781	ENSP00000356515:K781Q	ENSP00000356499:K781Q	K	+	1	0	UTRN	144821655	1.000000	0.71417	0.998000	0.56505	0.212000	0.24457	3.840000	0.55843	2.240000	0.73641	0.477000	0.44152	AAG		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			36	103	0	0	0	0	36	103				
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:151672560T>C	ENST00000253332.1	+	3	3223	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000402676.2_Missense_Mutation_p.S1012P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(3034-3036)TCC>CCC		A kinase (PRKA) anchor protein 12 isoform 1							63.0	58.0	59.0					6																	151672560		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672560T>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3034T>C	6.37:g.151672560T>C	ENSP00000253332:p.Ser1012Pro					AKAP12_uc003qoe.2_Missense_Mutation_p.S1012P|AKAP12_uc003qof.2_Missense_Mutation_p.S914P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S907P	p.S1012P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3274	+		Ovarian(120;0.125)	1012					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3034T>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305052	0.60305	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.16743	2.32;2.32;2.34;2.34	5.27	4.07	0.47477	.	0.182863	0.27151	N	0.020689	T	0.22666	0.0547	M	0.74881	2.28	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;P	0.67548	0.952;0.952;0.853	T	0.08534	-1.0717	10	0.42905	T	0.14	.	10.0914	0.42449	0.2825:0.0:0.0:0.7175	.	907;914;1012	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	P	1012;1012;914;907	ENSP00000384537:S1012P;ENSP00000253332:S1012P;ENSP00000346702:S914P;ENSP00000352794:S907P	ENSP00000253332:S1012P	S	+	1	0	AKAP12	151714253	0.993000	0.37304	0.205000	0.23548	0.966000	0.64601	3.848000	0.55903	0.810000	0.34279	0.379000	0.24179	TCC		0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	77	0	0	0	0	3	77				
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323																																						uc003spp.2		NA																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(1258-1260)ACA>GCA		eukaryotic translation initiation factor 2-alpha							118.0	107.0	110.0					7																	6077129		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6077129T>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1258A>G	7.37:g.6077129T>C	ENSP00000199389:p.Thr420Ala					EIF2AK1_uc003spq.2_Missense_Mutation_p.T419A|EIF2AK1_uc011jwm.1_Missense_Mutation_p.T296A	p.T420A	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	11	1404	-		Ovarian(82;0.0423)	420			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.1258A>G	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.970104	0.34754	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.22743	2.06;1.94	5.8	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354612	0.33419	N	0.004938	T	0.18002	0.0432	N	0.16166	0.38	0.29041	N	0.885114	P;P;B	0.44690	0.77;0.841;0.146	P;B;B	0.49887	0.625;0.341;0.105	T	0.03077	-1.1075	10	0.44086	T	0.13	-14.4892	9.87	0.41168	0.2261:0.0:0.0:0.7739	.	296;419;420	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	A	420;296;47	ENSP00000199389:T420A;ENSP00000445784:T296A	ENSP00000199389:T420A	T	-	1	0	EIF2AK1	6043655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.110000	0.31147	2.216000	0.71823	0.402000	0.26972	ACA		0.323	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		58	173	0	0	0	0	58	173				
AGMO	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:15601453G>T	ENST00000342526.3	-	1	187	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATCCTGCTGGGCTTCTGGGT	0.443																																						uc003stb.1		NA																	0					0						c.(16-18)GCC>GCA		transmembrane protein 195							106.0	102.0	104.0					7																	15601453		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601453G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.18C>A	7.37:g.15601453G>T							p.A6A	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			1	188	-			6					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.18C>A	CCDS34604.1																																																																																				0.443	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		35	150	1	0	2.68e-12	2.97e-12	35	150				
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438																																						uc011kas.1		NA																	0				central_nervous_system(1)	1						c.(1036-1038)CTC>CTG		T-box transcription factor TBX20							17.0	16.0	16.0					7																	35242348		1790	4028	5818	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35242348G>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1038C>G	7.37:g.35242348G>C							p.L346L	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1049	-			346					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.1038C>G	CCDS43568.1																																																																																				0.438	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		3	18	0	0	0	0	3	18				
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(1711-1713)GAC>GAT		amphiphysin isoform 1							62.0	59.0	60.0					7																	38431514		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431514G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1713C>T	7.37:g.38431514G>A						AMPH_uc003tgv.2_Silent_p.D529D|AMPH_uc003tgt.2_Silent_p.D456D|AMPH_uc003tgw.1_Silent_p.D594D|AMPH_uc010kxl.1_RNA	p.D571D	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1782	-			571					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1713C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204474	0.09704	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.75	-9.39	0.00619	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	-4.5548	10.8887	0.46984	0.4664:0.3399:0.1937:0.0	.	.	.	.	C	454	.	.	R	-	1	0	AMPH	38398039	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.456000	0.06754	-2.020000	0.00940	-0.952000	0.02654	CGC		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		19	96	0	0	0	0	19	96				
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313																																						uc003tsx.2		NA																	0				skin(1)	1						c.(505-507)TCA>TTA		zinc finger protein 679							88.0	75.0	79.0					7																	63726517		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726517C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.506C>T	7.37:g.63726517C>T	ENSP00000416809:p.Ser169Leu						p.S169L	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			5	775	+			169			C2H2-type 1; degenerate.			Missense_Mutation	SNP	ENST00000421025.1	37	c.506C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568708	0.13560	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.30981	1.51;1.51	1.12	1.12	0.20585	Zinc finger, C2H2 (1);	.	.	.	.	T	0.28699	0.0711	M	0.70275	2.135	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.29731	-1.0002	9	0.48119	T	0.1	.	4.3653	0.11222	0.3859:0.6141:0.0:0.0	.	169	Q8IYX0	ZN679_HUMAN	L	169	ENSP00000416809:S169L;ENSP00000255746:S169L	ENSP00000255746:S169L	S	+	2	0	ZNF679	63363952	0.000000	0.05858	0.008000	0.14137	0.327000	0.28475	-0.323000	0.07997	0.540000	0.28808	0.194000	0.17425	TCA		0.313	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	25	0	0	0	0	14	25				
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637																																						uc003tyx.2		NA																	0					0						c.(508-510)GAG>GAC		syntaxin 1A isoform 1							123.0	100.0	108.0					7																	73118115		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73118115C>G		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.510G>C	7.37:g.73118115C>G	ENSP00000222812:p.Glu170Asp					WBSCR22_uc003tyw.1_3'UTR|STX1A_uc003tyy.2_Missense_Mutation_p.E170D|STX1A_uc010lbj.1_Missense_Mutation_p.E170D	p.E170D	NM_004603	NP_004594	Q16623	STX1A_HUMAN			7	537	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	170			Cytoplasmic (Potential).		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.510G>C	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697692	0.68386	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.14	4.14	0.48551	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.58669	1.825	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.003;0.004;0.001	T	0.51537	-0.8693	10	0.31617	T	0.26	-32.7616	13.9387	0.64041	0.0:1.0:0.0:0.0	.	170;170;170	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	D	79;170;170;170;170	ENSP00000222812:E170D;ENSP00000378585:E170D;ENSP00000378583:E170D;ENSP00000378584:E170D	ENSP00000222812:E170D	E	-	3	2	STX1A	72756051	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.982000	0.40638	2.155000	0.67459	0.305000	0.20034	GAG		0.637	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		50	84	0	0	0	0	50	84				
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON3_ENST00000451904.1_Silent_p.G51G|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	51					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TATCTTCAGAGCCACTTTCTG	0.378																																						uc003unt.2		NA																	0				ovary(1)	1						c.(151-153)GGC>GGG		paraoxonase 3							179.0	189.0	186.0					7																	95019514		2203	4300	6503	SO:0001819	synonymous_variant	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:95019514G>C	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.153C>G	7.37:g.95019514G>C						PON1_uc011kih.1_Intron|PON3_uc011kii.1_Silent_p.G51G	p.G51G	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	178	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		51					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.153C>G	CCDS5639.1																																																																																				0.378	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		101	225	0	0	0	0	101	225				
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:102982244G>A	ENST00000379263.3	-	2	472	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000412522.1_Silent_p.P74P	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373																																						uc003vbo.2		NA																	0				kidney(1)	1						c.(220-222)CCC>CCT		DnaJ (Hsp40) homolog, subfamily C, member 2							134.0	123.0	127.0					7																	102982244		1825	4088	5913	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102982244G>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.222C>T	7.37:g.102982244G>A						DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Silent_p.P74P|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Silent_p.P74P	p.P74P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN			2	473	-			74					A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.222C>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077156	0.20227	.	.	ENSG00000105821	ENST00000426036	T	0.21543	2.0	5.01	4.0	0.46444	.	0.161276	0.56097	D	0.000027	T	0.25419	0.0618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01093	-1.1454	7	0.30854	T	0.27	0.0265	9.1845	0.37163	0.1733:0.0:0.8267:0.0	.	.	.	.	L	63	ENSP00000412611:P63L	ENSP00000412611:P63L	P	-	2	0	DNAJC2	102769480	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.824000	0.27379	2.344000	0.79699	0.460000	0.39030	CCA		0.373	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			57	115	0	0	0	0	57	115				
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T	rs533130717		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:16032716G>T	ENST00000262101.5	-	3	318	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Missense_Mutation_p.P66H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413																																						uc003wwz.2		NA																	0				ovary(1)	1						c.(196-198)CCT>CAT		macrophage scavenger receptor 1 isoform type 1							126.0	120.0	122.0					8																	16032716		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16032716G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.197C>A	8.37:g.16032716G>T	ENSP00000262101:p.Pro66His					MSR1_uc010lsu.2_Missense_Mutation_p.P84H|MSR1_uc003wxa.2_Missense_Mutation_p.P66H|MSR1_uc003wxb.2_Missense_Mutation_p.P66H|MSR1_uc011kxz.1_Intron	p.P66H	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	3	395	-			66			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.197C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611690	0.66558	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.91351	-2.44;-2.18;-2.19;-2.44;-2.83	5.34	5.34	0.76211	Macrophage scavenger receptor (1);	0.000000	0.56097	D	0.000029	D	0.94751	0.8306	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.94611	0.7804	10	0.56958	D	0.05	.	14.9277	0.70893	0.0:0.0:1.0:0.0	.	84;66;66;66	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	H	66;66;84;66;66	ENSP00000262100:P66H;ENSP00000262101:P66H;ENSP00000405453:P84H;ENSP00000347430:P66H;ENSP00000371428:P66H	ENSP00000262101:P66H	P	-	2	0	MSR1	16077087	0.581000	0.26741	0.134000	0.22075	0.806000	0.45545	2.237000	0.43061	2.658000	0.90341	0.650000	0.86243	CCT		0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			25	61	1	0	4.27e-12	4.7e-12	25	61				
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATTTCAAGTGTAAGATCC	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(1747-1749)CTT>GTT	NHEJ	protein kinase, DNA-activated, catalytic							38.0	34.0	35.0					8																	48845609		1802	4047	5849	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48845609G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1747C>G	8.37:g.48845609G>C	ENSP00000313420:p.Leu583Val					PRKDC_uc003xqj.2_Missense_Mutation_p.L583V|PRKDC_uc011ldh.1_Missense_Mutation_p.L583V	p.L583V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			16	1804	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	583					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1747C>G		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004587	0.02112	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64803	-0.12;4.46	6.07	3.2	0.36748	Armadillo-type fold (1);	0.080756	0.49305	D	0.000147	T	0.34395	0.0896	.	.	.	0.31968	N	0.607481	B;B;B	0.19200	0.012;0.034;0.034	B;B;B	0.18871	0.023;0.021;0.021	T	0.36625	-0.9740	9	0.02654	T	1	.	8.8688	0.35303	0.1489:0.1896:0.6615:0.0	.	583;583;583	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	583	ENSP00000313420:L583V;ENSP00000345182:L583V	ENSP00000313420:L583V	L	-	1	0	PRKDC	49008162	0.995000	0.38212	0.973000	0.42090	0.167000	0.22549	1.969000	0.40510	0.907000	0.36646	-0.140000	0.14226	CTT		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	28	0	0	0	0	8	28				
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1180-1182)ATG>GTG		retinitis pigmentosa RP1 protein							77.0	75.0	76.0					8																	55537622		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537622A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1180A>G	8.37:g.55537622A>G	ENSP00000220676:p.Met394Val					RP1_uc011ldy.1_Intron	p.M394V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1328	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	394						Missense_Mutation	SNP	ENST00000220676.1	37	c.1180A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.101886	0.01828	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	4.03	-3.52	0.04682	.	0.570592	0.14475	N	0.317307	T	0.12305	0.0299	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12578	-1.0542	10	0.56958	D	0.05	.	1.1992	0.01881	0.4821:0.1351:0.1246:0.2581	.	394	P56715	RP1_HUMAN	V	394	ENSP00000220676:M394V	ENSP00000220676:M394V	M	+	1	0	RP1	55700175	0.706000	0.27856	0.000000	0.03702	0.007000	0.05969	0.550000	0.23345	-0.513000	0.06496	-0.219000	0.12488	ATG		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	105	0	0	0	0	29	105				
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348																																						uc003yms.2		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(418-420)GAA>AAA		R-spondin family, member 2 precursor							100.0	93.0	95.0					8																	108972911		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972911C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.418G>A	8.37:g.108972911C>T	ENSP00000276659:p.Glu140Lys					RSPO2_uc003ymq.2_Missense_Mutation_p.E73K|RSPO2_uc003ymr.2_Missense_Mutation_p.E77K	p.E140K	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1076	-			140					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.418G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553913	0.86231	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.87	5.87	0.94306	Growth factor, receptor (1);	0.047965	0.85682	D	0.000000	T	0.81842	0.4908	L	0.37800	1.135	0.80722	D	1	B;P	0.40731	0.447;0.728	B;B	0.39339	0.109;0.297	T	0.80834	-0.1205	10	0.39692	T	0.17	-1.5729	20.2154	0.98294	0.0:1.0:0.0:0.0	.	140;77	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	K	73;77;77;140;73;73	ENSP00000428940:E73K;ENSP00000427937:E77K;ENSP00000367698:E77K;ENSP00000276659:E140K;ENSP00000428614:E73K;ENSP00000430485:E73K	ENSP00000276659:E140K	E	-	1	0	RSPO2	109042087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.788000	0.95919	0.551000	0.68910	GAA		0.348	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		22	149	0	0	0	0	22	149				
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4456-4458)CAG>TAG		collagen, type XXII, alpha 1							36.0	40.0	39.0					8																	139606419		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606419G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4456C>T	8.37:g.139606419G>A	ENSP00000303153:p.Gln1486*	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Nonsense_Mutation_p.Q766*	p.Q1486*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4903	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1486			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.4456C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	48	14.052909	0.99777	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.92	5.92	0.95590	.	0.000000	0.47852	D	0.000218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	.	.	.	X	1486;1466;1179	.	ENSP00000303153:Q1486X	Q	-	1	0	COL22A1	139675601	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CAG		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		101	78	0	0	0	0	101	78				
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582																																						uc004aub.2		NA																	0				ovary(1)	1						c.(2680-2682)AAG>AAC		PHD finger protein 2							103.0	89.0	94.0					9																	96437264		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96437264G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2682G>C	9.37:g.96437264G>C	ENSP00000352185:p.Lys894Asn					PHF2_uc011lug.1_Missense_Mutation_p.K777N|PHF2_uc004auc.2_Missense_Mutation_p.K314N	p.K894N	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	19	2829	+		Myeloproliferative disorder(762;0.0255)	894					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.2682G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750279	0.49257	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60920	0.15;0.15	5.0	1.67	0.24075	.	0.048028	0.85682	D	0.000000	T	0.69124	0.3076	L	0.57536	1.79	0.43168	D	0.994966	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.70854	-0.4759	10	0.87932	D	0	-24.2466	11.5032	0.50450	0.2351:0.0:0.7649:0.0	.	313;894	Q8N359;O75151	.;PHF2_HUMAN	N	894;125	ENSP00000352185:K894N;ENSP00000364525:K125N	ENSP00000352185:K894N	K	+	3	2	PHF2	95477085	1.000000	0.71417	0.996000	0.52242	0.446000	0.32137	1.975000	0.40569	0.511000	0.28236	-0.137000	0.14449	AAG		0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		17	94	0	0	0	0	17	94				
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		skin(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1432-1434)TGC>TAC		notch1 preproprotein							49.0	54.0	52.0					9																	139412212		2105	4213	6318	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412212C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1433G>A	9.37:g.139412212C>T	ENSP00000277541:p.Cys478Tyr	HNSCC(8;0.001)					p.C478Y	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1433	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	478			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1433G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554771	0.65425	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96198	0.9143	10	0.87932	D	0	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	478	P46531	NOTC1_HUMAN	Y	478	ENSP00000277541:C478Y	ENSP00000277541:C478Y	C	-	2	0	NOTCH1	138532033	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.258000	0.78371	2.029000	0.59856	0.462000	0.41574	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		104	29	0	0	0	0	104	29				
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139905642C>T	ENST00000371605.3	-	37	6063	c.5916G>A	c.(5914-5916)aaG>aaA	p.K1972K	ABCA2_ENST00000265662.5_Silent_p.K1973K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607																																						uc011mem.1		NA																	0					0						c.(5914-5916)AAG>AAA		ATP-binding cassette, sub-family A, member 2							59.0	63.0	62.0					9																	139905642		1891	4107	5998	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905642C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5916G>A	9.37:g.139905642C>T						ABCA2_uc011mel.1_Silent_p.K1973K|ABCA2_uc004ckl.1_Silent_p.K1903K|ABCA2_uc004ckm.1_Silent_p.K2003K	p.K1972K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	37	6064	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1972					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.5916G>A																																																																																					0.607	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		34	119	0	0	0	0	34	119				
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T	rs374006227		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1864-1866)ttcfs	p.F622fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.F368fs|ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599																																						uc001ant.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1861-1866)GGCTTCfs		sweet taste receptor T1r isoform b																																				SO:0001589	frameshift_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638981_6638982insT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1865dupT	1.37:g.6638983_6638983dupT	ENSP00000331867:p.Phe622fs					TAS1R1_uc001anu.2_Frame_Shift_Ins_p.G367fs|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.G621fs	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1863_1864	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	621_622			Helical; Name=2; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Frame_Shift_Ins	INS	ENST00000333172.6	37	c.1863_1864insT	CCDS81.1																																																																																				0.599	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			9	111	NA	NA	NA	NA	9	111	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10894-10896)CAG>CTCCAG		filaggrin																																				SO:0001652	inframe_insertion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276467_152276468insGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10894_10895insTCC	1.37:g.152276467_152276468insGGA	ENSP00000357789:p.Gln3631_Gln3632insLeu						p.3631_3632insL	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10930_10931	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3631_3632			Filaggrin 22.|Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.10894_10895insTCC	CCDS30860.1																																																																																				0.554	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	967	NA	NA	NA	NA	7	967	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)ttgfs	p.L482fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589																																						uc001moy.2		NA																	0				breast(1)	1						c.(1444-1446)TTGfs		SPT2, Suppressor of Ty, domain containing 1																																				SO:0001589	frameshift_variant	144108							g.chr11:18636375_18636376insA	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1446dupT	11.37:g.18636377_18636377dupA	ENSP00000337991:p.Leu482fs					SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.L482fs	p.L482fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1661_1662	-			482			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS	ENST00000336349.5	37	c.1445_1446insT	CCDS31441.1																																																																																				0.589	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		16	102	NA	NA	NA	NA	16	102	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																						uc010rip.1		NA																	0					0						c.(421-423)CTAfs		SPRY domain containing 5				1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	SO:0001589	frameshift_variant	84767					intracellular	zinc ion binding	g.chr11:55653610delA	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs					SPRYD5_uc010riq.1_5'UTR	p.L141fs	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	515	+		all_epithelial(135;0.226)	141					A6NMG2	Frame_Shift_Del	DEL	ENST00000449290.2	37	c.423delA																																																																																					0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		21	63	NA	NA	NA	NA	21	63	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						uc010shk.1		NA																	0					0						c.(688-693)AACAAG>AAG		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del						p.N230del	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		8	889	NA	NA	NA	NA	8	889	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49431260_49431264delCTGGG	ENST00000301067.7	-	34	9874_9878	c.9875_9879delCCCAG	c.(9874-9879)gcccagfs	p.AQ3292fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3292	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGACATGGCCTGGGCAGGGCCTGG	0.61																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9874-9879)GCCCAGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431260_49431264delCTGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9875_9879delCCCAG	12.37:g.49431260_49431264delCTGGG	ENSP00000301067:p.Ala3292fs	HNSCC(34;0.089)					p.A3292fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9875_9879	-			3292_3293			Gln-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.9875_9879delCCCAG	CCDS44873.1																																																																																				0.610	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	4	NA	NA	NA	NA	6	4	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1621-1623)gca>GCGgca	p.541_541A>AA	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.528_528A>AA	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	541	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001vxc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1618-1623)insGCG	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2																																				SO:0001652	inframe_insertion	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825824_20825825insGCG	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	Exception_encountered	14.37:g.20825824_20825825insGCG	ENSP00000250416:p.Ala541dup					PARP2_uc001vxd.2_In_Frame_Ins_p.528_529insA|PARP2_uc001vxb.1_3'UTR	p.541_542insA	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1648_1649	+	all_cancers(95;0.00092)	all_lung(585;0.235)	541_542			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	In_Frame_Ins	INS	ENST00000250416.5	37	c.1620_1621insGCG	CCDS41910.1																																																																																				0.416	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			44	130	NA	NA	NA	NA	44	130	---	---	---	---
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(103-105)gccfs	p.A35fs	MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.A34fs|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.A35fs|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.A34fs|MRPL52_ENST00000461594.1_3'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594																																						uc001wgw.3		NA																	0					0						c.(100-105)GCTGCCfs		mitochondrial ribosomal protein L52 isoform a			,,,,,	11,4253		0,11,2121					,,,,,	0.3	1.0			67	49,8205		0,49,4078	no	frameshift,utr-5,utr-5,utr-5,frameshift,frameshift	MRPL52	NM_181307.2,NM_181306.2,NM_181305.2,NM_181304.2,NM_180982.2,NM_178336.2	,,,,,	0,60,6199	A1A1,A1R,RR		0.5937,0.258,0.4793	,,,,,	,,,,,		60,12458				SO:0001589	frameshift_variant	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299408_23299409insG	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.103dupG	14.37:g.23299409_23299409dupG	ENSP00000347277:p.Ala35fs					MRPL52_uc001wgx.3_Frame_Shift_Ins_p.A33fs|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Frame_Shift_Ins_p.A34fs	p.A34fs	NM_178336	NP_848026	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	132_133	+	all_cancers(95;9.47e-05)		34_35					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Frame_Shift_Ins	INS	ENST00000355151.5	37	c.102_103insG	CCDS41917.1																																																																																				0.594	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		7	183	NA	NA	NA	NA	7	183	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41814429	41814430	+	Frame_Shift_Ins	INS	-	-	C	rs200954116		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:41814429_41814430insC	ENST00000304330.4	-	20	2877_2878	c.2761_2762insG	c.(2761-2763)gccfs	p.A921fs	RPAP1_ENST00000561603.1_Frame_Shift_Ins_p.A921fs	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	921	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGTCCCGGGGCAGCCAATATG	0.569																																						uc001zod.2		NA																	0				large_intestine(1)	1						c.(2761-2763)GCCfs		RNA polymerase II associated protein 1																																				SO:0001589	frameshift_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41814429_41814430insC	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2762dupG	15.37:g.41814430_41814430dupC	ENSP00000306123:p.Ala921fs					RPAP1_uc001zoc.2_5'UTR	p.A921fs	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	20	2885_2886	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	921			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Frame_Shift_Ins	INS	ENST00000304330.4	37	c.2761_2762insG	CCDS10079.1																																																																																				0.569	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		22	45	NA	NA	NA	NA	22	45	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						uc002cto.2		NA																	0				pancreas(1)	1						c.(652-654)GACfs		interleukin 32 isoform B																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	p.D218fs	NM_004221	NP_004212	P24001	IL32_HUMAN			6	864_865	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.653_654insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		31	279	NA	NA	NA	NA	31	279	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13621261	13621262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:13621261_13621262insC	ENST00000359446.5	+	4	795_796	c.327_328insC	c.(328-330)ctgfs	p.L110fs	LDLRAD4_ENST00000585931.1_Frame_Shift_Ins_p.L33fs|LDLRAD4_ENST00000587757.1_Frame_Shift_Ins_p.L73fs|LDLRAD4_ENST00000399848.3_Frame_Shift_Ins_p.L110fs|LDLRAD4_ENST00000361205.4_Frame_Shift_Ins_p.L110fs|LDLRAD4_ENST00000586765.1_Frame_Shift_Ins_p.L73fs	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	110					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GGGAGGACGGGCTGCCGCAGGT	0.639																																						uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(325-330)GGGCTGfs		hypothetical protein LOC753 isoform alpha 1																																				SO:0001589	frameshift_variant	753					integral to membrane|plasma membrane		g.chr18:13621261_13621262insC	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.328dupC	18.37:g.13621262_13621262dupC	ENSP00000352420:p.Leu110fs					C18orf1_uc002ksb.2_Frame_Shift_Ins_p.G109fs|C18orf1_uc002kse.2_Frame_Shift_Ins_p.G72fs|C18orf1_uc002ksf.2_Frame_Shift_Ins_p.G72fs|C18orf1_uc002ksg.1_Frame_Shift_Ins_p.G32fs|C18orf1_uc002ksh.1_Frame_Shift_Ins_p.G51fs|C18orf1_uc002ksi.1_Frame_Shift_Ins_p.G51fs	p.G109fs	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	995_996	+			109_110			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Frame_Shift_Ins	INS	ENST00000359446.5	37	c.327_328insC	CCDS32793.1																																																																																				0.639	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		7	88	NA	NA	NA	NA	7	88	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:21511088_21511089insG	ENST00000313654.9	+	65	8740_8741	c.8499_8500insG	c.(8500-8502)agcfs	p.S2834fs	LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.S1169fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.S1225fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.S2778fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		S -> G (in dbSNP:rs1154233). {ECO:0000269|PubMed:15044476, ECO:0000269|PubMed:8077230, ECO:0000269|Ref.6}.		cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCGATAGCGGCAGCCCAATTTT	0.411																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8497-8502)GGCAGCfs		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511088_21511089insG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	Exception_encountered	18.37:g.21511088_21511089insG	ENSP00000324532:p.Ser2834fs					LAMA3_uc002kur.2_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.3_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.3_Frame_Shift_Ins_p.G1168fs	p.G2833fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			65	8585_8586	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2833_2834			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.8499_8500insG	CCDS42419.1																																																																																				0.411	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	191	NA	NA	NA	NA	8	191	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acgfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687																																						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(331-333)ACGfs		guanine nucleotide binding protein, alpha z							69.0	76.0	73.0					22																	23438215		2203	4299	6502	SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438215delG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.333delG	22.37:g.23438215delG	ENSP00000248996:p.Thr111fs					RTDR1_uc002zwt.2_Intron	p.T111fs	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	870	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		111					B2R6C1|Q4QRJ6	Frame_Shift_Del	DEL	ENST00000248996.4	37	c.333delG	CCDS13804.1																																																																																				0.687	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		77	166	NA	NA	NA	NA	77	166	---	---	---	---
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tgtfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421																																						uc003frm.2		NA																	0					0						c.(685-687)TGTfs		28kD interferon responsive protein																																				SO:0001589	frameshift_variant	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089105_187089106delTG	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.685_686delTG	3.37:g.187089107_187089108delTG	ENSP00000259030:p.Cys229fs						p.C229fs	NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	747_748	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		229			Helical; (Potential).		Q9H4F3	Frame_Shift_Del	DEL	ENST00000259030.2	37	c.685_686delTG	CCDS33910.1																																																																																				0.421	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		62	63	NA	NA	NA	NA	62	63	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)tccfs	p.S110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.S110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614																																						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(328-330)TCCfs		nucleotide-binding oligomerization domain																																				SO:0001589	frameshift_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30494800_30494801insA	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.329dupT	7.37:g.30494801_30494801dupA	ENSP00000222823:p.Ser110fs					NOD1_uc010kvs.2_Frame_Shift_Ins_p.S110fs	p.S110fs	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			5	851_852	-			110					B4DTU3|Q549U4|Q8IWF5	Frame_Shift_Ins	INS	ENST00000222823.4	37	c.328_329insT	CCDS5427.1																																																																																				0.614	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			25	140	NA	NA	NA	NA	25	140	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)cagcccfs	p.P508fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.P157fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.P125fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	508					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639																																						uc004biz.3		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1519-1524)CAGCCCfs		CASK-interacting protein CIP98 isoform 1																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185698_117185699insC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1522dupG	9.37:g.117185699_117185699dupC	ENSP00000354623:p.Pro508fs					DFNB31_uc004bix.2_Frame_Shift_Ins_p.Q156fs|DFNB31_uc004biy.3_Frame_Shift_Ins_p.Q124fs|DFNB31_uc004bja.3_Frame_Shift_Ins_p.Q507fs	p.Q507fs	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			7	2170_2171	-			507_508					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1521_1522insG	CCDS6806.1																																																																																				0.639	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		68	243	NA	NA	NA	NA	68	243	---	---	---	---
FPGS	2356	broad.mit.edu	37	9	130570884	130570885	+	Frame_Shift_Ins	INS	-	-	C	rs375100718		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:130570884_130570885insC	ENST00000373247.2	+	10	920_921	c.870_871insC	c.(871-873)ccgfs	p.P291fs	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Frame_Shift_Ins_p.P265fs|FPGS_ENST00000373225.3_Frame_Shift_Ins_p.P241fs	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	291					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	AGGAAGGGGGGCCGCCGCTGAC	0.698																																						uc004bsg.1		NA																	0					0						c.(868-873)GGGCCGfs		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130570884_130570885insC		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.872dupC	9.37:g.130570886_130570886dupC	ENSP00000362344:p.Pro291fs					FPGS_uc004bsh.1_Frame_Shift_Ins_p.G107fs|FPGS_uc011mal.1_Frame_Shift_Ins_p.G264fs|FPGS_uc004bsi.1_Frame_Shift_Ins_p.G240fs	p.G290fs	NM_004957	NP_004948	Q05932	FOLC_HUMAN			10	920_921	+			290_291					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Frame_Shift_Ins	INS	ENST00000373247.2	37	c.870_871insC	CCDS35148.1																																																																																				0.698	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			14	41	NA	NA	NA	NA	14	41	---	---	---	---
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)gccfs	p.A323fs	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721																																						uc010myt.1		NA																	0					0						c.(967-969)GCCfs		immediate early response 5-like							5.0	7.0	7.0					9																	131939365		1695	3783	5478	SO:0001589	frameshift_variant	389792							g.chr9:131939365delC	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.967delG	9.37:g.131939365delC	ENSP00000361569:p.Ala323fs						p.A323fs	NM_203434	NP_982258	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1176	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	323					Q6P3E2	Frame_Shift_Del	DEL	ENST00000372491.2	37	c.967delG	CCDS43888.1																																																																																				0.721	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			16	15	NA	NA	NA	NA	16	15	---	---	---	---
