#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	19029673	19029673	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:19029673C>T	ENST00000375375.3	+	7	1636	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	PAX7_ENST00000400661.3_Silent_p.A344A|PAX7_ENST00000420770.2_Silent_p.A346A	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	346	Poly-Ala.				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)		CTGCAGCCGCCGACACCAGCT	0.667			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.(1036-1038)GCC>GCT		paired box 7 isoform 1							17.0	20.0	19.0					1																	19029673		2198	4294	6492	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029673C>T	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.1038C>T	1.37:g.19029673C>T						PAX7_uc001baz.2_Silent_p.A344A|PAX7_uc010oct.1_Silent_p.A346A	p.A346A	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)	7	1636	+		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)	346			Poly-Ala.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.1038C>T	CCDS186.1																																																																																				0.667	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		4	16	0	0	0	0	4	16				
TMEM39B	55116	broad.mit.edu	37	1	32542920	32542920	+	Splice_Site	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:32542920G>A	ENST00000336294.5	+	5	736		c.e5+1		TMEM39B_ENST00000427288.1_Splice_Site|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_Splice_Site|TMEM39B_ENST00000456834.2_Intron	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCTGCTATCCGTGAGTACCCC	0.597																																						uc010ogv.1		NA																	0					0						c.e5+1		transmembrane protein 39B							153.0	123.0	133.0					1																	32542920		2203	4300	6503	SO:0001630	splice_region_variant	55116					integral to membrane		g.chr1:32542920G>A	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.590+1G>A	1.37:g.32542920G>A						TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Splice_Site_p.P70_splice|TMEM39B_uc001bue.3_Splice_Site_p.P197_splice|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron	p.P197_splice	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN			5	736	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)						B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Splice_Site	SNP	ENST00000336294.5	37	c.590_splice	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362105	0.82353	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000427288	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9848	0.92765	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM39B	32315507	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.387000	0.97232	2.557000	0.86248	0.530000	0.56133	.		0.597	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056	Intron	19	75	0	0	0	0	19	75				
RIMKLA	284716	broad.mit.edu	37	1	42880192	42880192	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:42880192C>T	ENST00000431473.3	+	5	852	c.723C>T	c.(721-723)ggC>ggT	p.G241G		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	241	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGAACAAGGCAAGCAGTTGG	0.502																																						uc001chi.2		NA																	0					0						c.(721-723)GGC>GGT		ribosomal modification protein rimK-like family							243.0	208.0	220.0					1																	42880192		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880192C>T	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.723C>T	1.37:g.42880192C>T							p.G241G	NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN			5	861	+			241			ATP-grasp.		Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.723C>T	CCDS466.2																																																																																				0.502	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		60	351	0	0	0	0	60	351				
ELOVL1	64834	broad.mit.edu	37	1	43830980	43830980	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:43830980G>A	ENST00000372458.3	-	3	231	c.114C>T	c.(112-114)taC>taT	p.Y38Y	ELOVL1_ENST00000413844.2_Silent_p.Y38Y|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	38					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGAAGTACACGTAGGTCAGGA	0.527																																						uc001ciz.2		NA																	0					0						c.(112-114)TAC>TAT		elongation of very long chain fatty acids-like							58.0	52.0	54.0					1																	43830980		2203	4300	6503	SO:0001819	synonymous_variant	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830980G>A	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.114C>T	1.37:g.43830980G>A						ELOVL1_uc001cja.2_Silent_p.Y38Y|ELOVL1_uc001cjb.2_Silent_p.Y38Y|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Silent_p.Y38Y	p.Y38Y	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN			4	357	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	38			Helical; (Potential).		B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	ENST00000372458.3	37	c.114C>T	CCDS485.1																																																																																				0.527	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		14	40	0	0	0	0	14	40				
LRRC8D	55144	broad.mit.edu	37	1	90400812	90400812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:90400812C>T	ENST00000337338.5	+	3	2592	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.Q729*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	729					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ATTTAGTTTACAGAAACTCAG	0.378																																						uc001dnm.2		NA																	0				ovary(2)	2						c.(2185-2187)CAG>TAG		leucine rich repeat containing 8 family, member							81.0	83.0	82.0					1																	90400812		2202	4300	6502	SO:0001587	stop_gained	55144					integral to membrane	protein binding	g.chr1:90400812C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2185C>T	1.37:g.90400812C>T	ENSP00000338887:p.Gln729*					LRRC8D_uc001dnn.2_Nonsense_Mutation_p.Q729*	p.Q729*	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2610	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	729					D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	37	c.2185C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	40	8.016070	0.98610	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	6.07	0.98685	.	0.070125	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	729	.	.	Q	+	1	0	LRRC8D	90173400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.884000	0.98904	0.655000	0.94253	CAG		0.378	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		22	140	0	0	0	0	22	140				
S100A7A	338324	broad.mit.edu	37	1	153390659	153390659	+	Missense_Mutation	SNP	C	C	T	rs377370756		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:153390659C>T	ENST00000368729.4	+	2	158	c.101C>T	c.(100-102)aCg>aTg	p.T34M	S100A7A_ENST00000329256.2_Missense_Mutation_p.T34M|S100A7A_ENST00000368728.2_Missense_Mutation_p.T34M	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTGCTGACGATGATGAAG	0.483																																						uc001fbt.1		NA																	0				skin(1)	1						c.(100-102)ACG>ATG		S100 calcium binding protein A7-like 1							209.0	181.0	191.0					1																	153390659		2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153390659C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.101C>T	1.37:g.153390659C>T	ENSP00000357718:p.Thr34Met						p.T34M	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	158	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		34			EF-hand 1.		D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.101C>T	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.513201	0.27123	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.09911	2.93;2.93;2.93	2.42	-3.51	0.04696	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.04003	0.0112	L	0.36672	1.1	0.09310	N	1	D	0.63880	0.993	P	0.51079	0.658	T	0.14531	-1.0469	9	0.56958	D	0.05	.	4.175	0.10348	0.2928:0.4226:0.2845:0.0	.	34	Q86SG5	S1A7A_HUMAN	M	34	ENSP00000357718:T34M;ENSP00000357717:T34M;ENSP00000329008:T34M	ENSP00000329008:T34M	T	+	2	0	S100A7A	151657283	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.580000	0.05827	-0.847000	0.04168	-1.080000	0.02220	ACG		0.483	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		81	190	0	0	0	0	81	190				
FCRL5	83416	broad.mit.edu	37	1	157514262	157514262	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:157514262C>T	ENST00000361835.3	-	5	791	c.634G>A	c.(634-636)Gag>Aag	p.E212K	FCRL5_ENST00000356953.4_Missense_Mutation_p.E212K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E127K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E212K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E212K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	212	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTGGGTCTCACAGGTCAGG	0.562																																						uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(634-636)GAG>AAG		Fc receptor-like 5							96.0	97.0	97.0					1																	157514262		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514262C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.634G>A	1.37:g.157514262C>T	ENSP00000354691:p.Glu212Lys					FCRL5_uc009wsm.2_Missense_Mutation_p.E212K|FCRL5_uc010phv.1_Missense_Mutation_p.E212K|FCRL5_uc010phw.1_Missense_Mutation_p.E127K|FCRL5_uc001fqv.1_Missense_Mutation_p.E212K|FCRL5_uc010phx.1_5'UTR	p.E212K	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	792	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	212			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.634G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895771	0.33442	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	4.17	-7.48	0.01360	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.823020	0.03671	N	0.243917	T	0.05547	0.0146	L	0.51422	1.61	0.39296	D	0.964828	B;B;P;B;P	0.41673	0.023;0.023;0.759;0.057;0.576	B;B;P;B;P	0.46389	0.023;0.012;0.515;0.05;0.515	T	0.43766	-0.9371	10	0.19590	T	0.45	.	6.7399	0.23431	0.0:0.2519:0.2867:0.4615	.	127;212;212;212;212	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	K	212;212;212;127;212	ENSP00000354691:E212K;ENSP00000349434:E212K;ENSP00000357173:E212K;ENSP00000357174:E127K;ENSP00000357172:E212K	ENSP00000349434:E212K	E	-	1	0	FCRL5	155780886	0.945000	0.32115	0.016000	0.15963	0.056000	0.15407	-0.259000	0.08721	-2.200000	0.00747	-1.232000	0.01568	GAG		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		57	238	0	0	0	0	57	238				
CD1A	909	broad.mit.edu	37	1	158226598	158226598	+	Silent	SNP	C	C	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:158226598C>G	ENST00000289429.5	+	4	1160	c.627C>G	c.(625-627)tcC>tcG	p.S209S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	209	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTGGCTGTCCCATGGCCCCA	0.522																																						uc001frt.2		NA																	0				pancreas(2)|skin(1)	3						c.(625-627)TCC>TCG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						69.0	69.0	69.0					1																	158226598		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226598C>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.627C>G	1.37:g.158226598C>G							p.S209S	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1160	+	all_hematologic(112;0.0378)		209			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.627C>G	CCDS1174.1																																																																																				0.522	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		37	178	0	0	0	0	37	178				
SPTA1	6708	broad.mit.edu	37	1	158615002	158615002	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:158615002G>A	ENST00000368147.4	-	29	4350	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1390					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGGTCTAGGATCTTCTTGC	0.438																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4168-4170)ATC>ATT		spectrin, alpha, erythrocytic 1							184.0	165.0	171.0					1																	158615002		1913	4130	6043	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615002G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4170C>T	1.37:g.158615002G>A							p.I1390I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4369	-	all_hematologic(112;0.0378)		1390			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4170C>T	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		46	300	0	0	0	0	46	300				
DDR2	4921	broad.mit.edu	37	1	162748507	162748507	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:162748507C>T	ENST00000367922.3	+	18	2859	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Silent_p.D807D	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	807	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTTCCGAGACCAAGGGAGGC	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2419-2421)GAC>GAT		discoidin domain receptor family, member 2							105.0	101.0	102.0					1																	162748507		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162748507C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2421C>T	1.37:g.162748507C>T						DDR2_uc001gcg.2_Silent_p.D807D	p.D807D	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		18	2886	+	all_hematologic(112;0.115)		807			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.2421C>T	CCDS1241.1																																																																																				0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		23	135	0	0	0	0	23	135				
ILDR2	387597	broad.mit.edu	37	1	166905901	166905901	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:166905901C>T	ENST00000271417.3	-	5	685	c.630G>A	c.(628-630)caG>caA	p.Q210Q	ILDR2_ENST00000469934.2_Silent_p.Q210Q|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Silent_p.Q191Q|ILDR2_ENST00000528703.1_Silent_p.Q210Q|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	210	Cys-rich.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGGGCAGCACTGGCACCAGC	0.592																																						uc001gdx.1		NA																	0				ovary(1)	1						c.(628-630)CAG>CAA		immunoglobulin-like domain containing receptor							78.0	76.0	76.0					1																	166905901		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166905901C>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.630G>A	1.37:g.166905901C>T							p.Q210Q	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			5	686	-			210			Cys-rich.|Cytoplasmic (Potential).			Silent	SNP	ENST00000271417.3	37	c.630G>A	CCDS1256.1																																																																																				0.592	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		9	68	0	0	0	0	9	68				
FAIM3	9214	broad.mit.edu	37	1	207087230	207087230	+	Missense_Mutation	SNP	G	G	A	rs138817695	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:207087230G>A	ENST00000367091.3	-	2	390	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	FAIM3_ENST00000420007.2_Missense_Mutation_p.R83C|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	83	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGATTCTTGCGTGGGTATTGC	0.537													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21194	0.0		0.0	False		,,,				2504	0.0					uc001hey.2		NA																	0				central_nervous_system(1)	1						c.(247-249)CGC>TGC		Fas apoptotic inhibitory molecule 3 isoform a		G	,CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	142.0	131.0	135.0		,247,247	-0.4	0.0	1	dbSNP_134	135	0,8600		0,0,4300	yes	intron,missense,missense	FAIM3	NM_001142473.1,NM_001193338.1,NM_005449.4	,180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,possibly-damaging,possibly-damaging	,83/307,83/391	207087230	4,13002	2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087230G>A	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.247C>T	1.37:g.207087230G>A	ENSP00000356058:p.Arg83Cys					FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Missense_Mutation_p.T26M|FAIM3_uc010psb.1_Missense_Mutation_p.R83C	p.R83C	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	426	-	Breast(84;0.201)		83			Ig-like.|Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.247C>T	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119965	0.56613	9.08E-4	0.0	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.28	-0.394	0.12434	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.271260	0.05303	N	0.523388	T	0.06645	0.0170	L	0.39245	1.2	0.09310	N	1	D	0.55172	0.97	P	0.48901	0.594	T	0.26224	-1.0109	10	0.66056	D	0.02	-4.9305	1.9557	0.03375	0.1445:0.3732:0.306:0.1763	.	83	O60667	FAIM3_HUMAN	C	83;83;83;83;114	ENSP00000356058:R83C;ENSP00000403356:R83C;ENSP00000432936:R83C;ENSP00000437331:R83C;ENSP00000436316:R114C	ENSP00000356058:R83C	R	-	1	0	FAIM3	205153853	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.204000	0.03017	-0.041000	0.13558	-0.165000	0.13383	CGC		0.537	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		27	220	0	0	0	0	27	220				
ESRRG	2104	broad.mit.edu	37	1	216850620	216850620	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:216850620G>C	ENST00000408911.3	-	2	423	c.270C>G	c.(268-270)atC>atG	p.I90M	ESRRG_ENST00000463665.1_Missense_Mutation_p.I67M|ESRRG_ENST00000359162.2_Missense_Mutation_p.I67M|ESRRG_ENST00000391890.3_Missense_Mutation_p.I67M|ESRRG_ENST00000361395.2_Missense_Mutation_p.I67M|ESRRG_ENST00000366938.2_Missense_Mutation_p.I67M|ESRRG_ENST00000361525.3_Missense_Mutation_p.I67M|ESRRG_ENST00000493603.1_Missense_Mutation_p.I67M|ESRRG_ENST00000366937.1_Missense_Mutation_p.I95M|ESRRG_ENST00000366940.2_Missense_Mutation_p.I67M|ESRRG_ENST00000360012.3_Missense_Mutation_p.I67M|ESRRG_ENST00000487276.1_Missense_Mutation_p.I67M|ESRRG_ENST00000493748.1_Missense_Mutation_p.I67M	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	90					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TACCTCCCAGGATAGGAGCAG	0.537																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(268-270)ATC>ATG		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						177.0	156.0	163.0					1																	216850620		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850620G>C	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.270C>G	1.37:g.216850620G>C	ENSP00000386171:p.Ile90Met					ESRRG_uc001hky.1_Missense_Mutation_p.I67M|ESRRG_uc009xdp.1_Missense_Mutation_p.I67M|ESRRG_uc001hkz.1_Missense_Mutation_p.I67M|ESRRG_uc010puc.1_Missense_Mutation_p.I67M|ESRRG_uc001hla.1_Missense_Mutation_p.I67M|ESRRG_uc001hlb.1_Missense_Mutation_p.I67M|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.I67M|ESRRG_uc001hld.1_Missense_Mutation_p.I67M|ESRRG_uc001hkx.1_Missense_Mutation_p.I95M|ESRRG_uc009xdo.1_Missense_Mutation_p.I67M|ESRRG_uc001hle.1_Missense_Mutation_p.I67M	p.I90M	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	436	-			90					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.270C>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872721	0.33069	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.94687	-3.17;-3.17;-3.16;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.2;-3.49;-3.17;-3.17;-2.99;0.87	6.16	4.22	0.49857	.	0.546370	0.20255	N	0.095988	D	0.88179	0.6367	N	0.08118	0	0.31709	N	0.639778	B;B;B	0.22604	0.072;0.0;0.0	B;B;B	0.23018	0.043;0.001;0.0	T	0.82147	-0.0601	10	0.32370	T	0.25	.	17.5804	0.87966	0.0:0.4848:0.5152:0.0	.	67;95;90	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	M	67;67;95;90;67;67;67;67;67;67;67;67;67;67;67;67	ENSP00000355225:I67M;ENSP00000355907:I67M;ENSP00000355904:I95M;ENSP00000386171:I90M;ENSP00000352077:I67M;ENSP00000354584:I67M;ENSP00000355905:I67M;ENSP00000353108:I67M;ENSP00000419594:I67M;ENSP00000375761:I67M;ENSP00000418629:I67M;ENSP00000419155:I67M;ENSP00000417374:I67M;ENSP00000419514:I67M;ENSP00000417900:I67M	ENSP00000346386:I67M	I	-	3	3	ESRRG	214917243	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.581000	0.36558	0.857000	0.35407	0.650000	0.86243	ATC		0.537	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		28	198	0	0	0	0	28	198				
OR11L1	391189	broad.mit.edu	37	1	248004602	248004602	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:248004602G>A	ENST00000355784.2	-	1	652	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	199						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAGGATGAAGATGGTCACCT	0.483																																						uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(595-597)ATC>ATT		olfactory receptor, family 11, subfamily L,							94.0	96.0	96.0					1																	248004602		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004602G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.597C>T	1.37:g.248004602G>A							p.I199I	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	597	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		199			Helical; Name=5; (Potential).			Silent	SNP	ENST00000355784.2	37	c.597C>T	CCDS31098.1																																																																																				0.483	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		29	180	0	0	0	0	29	180				
TUBB8	347688	broad.mit.edu	37	10	94647	94647	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr10:94647C>T	ENST00000309812.4	-	3	247	c.185G>A	c.(184-186)cGc>cAc	p.R62H	TUBB8_ENST00000332708.5_Missense_Mutation_p.A26T|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	62					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GAGCACAGCGCGGGGCACGTA	0.697																																					Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	0				ovary(1)	1						c.(184-186)CGC>CAC		tubulin, beta 8 isoform 1							20.0	25.0	23.0					10																	94647		2184	4241	6425	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94647C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.185G>A	10.37:g.94647C>T	ENSP00000311042:p.Arg62His					TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_5'UTR	p.R62H	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	3	185	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	62					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.185G>A	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.439|9.439	1.087505|1.087505	0.20390|0.20390	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000332708|ENST00000328974;ENST00000309812	.|D	.|0.82081	.|-1.57	0.109|0.109	0.109|0.109	0.14578|0.14578	.|Tubulin/FtsZ, GTPase domain (4);	.|0.000000	.|0.64402	.|U	.|0.000020	D|D	0.91415|0.91415	0.7291|0.7291	H|H	0.99117|0.99117	4.435|4.435	0.80722|0.80722	D|D	1|1	.|P	.|0.51537	.|0.946	.|P	.|0.54312	.|0.748	D|D	0.88642|0.88642	0.3176|0.3176	6|10	0.87932|0.87932	D|D	0|0	.|.	5.9913|5.9913	0.19465|0.19465	0.0:0.9994:0.0:6.0E-4|0.0:0.9994:0.0:6.0E-4	.|.	.|62	.|Q3ZCM7	.|TBB8_HUMAN	T|H	26|62	.|ENSP00000311042:R62H	ENSP00000371071:A26T|ENSP00000311042:R62H	A|R	-|-	1|2	0|0	RP11-631M21.2|RP11-631M21.2	84647|84647	0.720000|0.720000	0.27996|0.27996	0.017000|0.017000	0.16124|0.16124	0.018000|0.018000	0.09664|0.09664	3.718000|3.718000	0.54919|0.54919	0.181000|0.181000	0.19994|0.19994	0.184000|0.184000	0.17185|0.17185	GCG|CGC		0.697	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		14	53	0	0	0	0	14	53				
LRRC4C	57689	broad.mit.edu	37	11	40137559	40137559	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:40137559C>A	ENST00000278198.2	-	2	2247	c.284G>T	c.(283-285)aGc>aTc	p.S95I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.S95I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S95I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S95I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	95					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGCTTGAAGCTGTTCACTTT	0.473																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(283-285)AGC>ATC		netrin-G1 ligand precursor							103.0	96.0	98.0					11																	40137559		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137559C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.284G>T	11.37:g.40137559C>A	ENSP00000278198:p.Ser95Ile					LRRC4C_uc001mxc.1_Missense_Mutation_p.S91I|LRRC4C_uc001mxd.1_Missense_Mutation_p.S91I|LRRC4C_uc001mxb.1_Missense_Mutation_p.S91I	p.S95I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2248	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	95			LRR 1.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.284G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105282	0.94245	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92185	0.7522	L	0.35288	1.05	0.80722	D	1	D	0.65815	0.995	P	0.61275	0.886	D	0.92527	0.6030	10	0.59425	D	0.04	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	95	Q9HCJ2	LRC4C_HUMAN	I	95	ENSP00000278198:S95I;ENSP00000436976:S95I;ENSP00000437132:S95I;ENSP00000434761:S95I	ENSP00000278198:S95I	S	-	2	0	LRRC4C	40094135	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.719000	0.93026	0.650000	0.86243	AGC		0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		32	90	1	0	7.73e-29	9.16e-29	32	90				
OR5T3	390154	broad.mit.edu	37	11	56020434	56020434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:56020434G>T	ENST00000303059.3	+	1	759	c.759G>T	c.(757-759)ttG>ttT	p.L253F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCATTCTGTTGTCCATTCTGA	0.423																																						uc010rjd.1		NA																	0					0						c.(757-759)TTG>TTT		olfactory receptor, family 5, subfamily T,							245.0	222.0	230.0					11																	56020434		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020434G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.759G>T	11.37:g.56020434G>T	ENSP00000305403:p.Leu253Phe						p.L253F	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	759	+	Esophageal squamous(21;0.00448)		253			Cytoplasmic (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.759G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	1.952	-0.440955	0.04636	.	.	ENSG00000172489	ENST00000303059	T	0.38077	1.16	4.65	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	1.431090	0.05139	N	0.493875	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	B	0.11235	0.004	B	0.20384	0.029	T	0.26052	-1.0114	10	0.39692	T	0.17	.	4.8614	0.13585	0.1591:0.0:0.5397:0.3012	.	253	Q8NGG3	OR5T3_HUMAN	F	253	ENSP00000305403:L253F	ENSP00000305403:L253F	L	+	3	2	OR5T3	55777010	0.000000	0.05858	0.213000	0.23690	0.076000	0.17211	-1.597000	0.02089	0.654000	0.30846	0.643000	0.83706	TTG		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		58	380	1	0	6.18e-18	7.23e-18	58	380				
PCNXL3	399909	broad.mit.edu	37	11	65380600	65380600	+	5'Flank	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:65380600C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.V210M|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)		p.V210M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGGGAGGCACGCGCCGCCCG	0.657																																						uc001oew.2		NA																	1	Substitution - Missense(1)	p.V210M(1)	breast(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(628-630)GTG>ATG		mitogen-activated protein kinase kinase kinase							51.0	50.0	50.0					11																	65380600		2201	4297	6498	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380600C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380600C>T	Exception_encountered					MAP3K11_uc010rol.1_5'Flank	p.V210M	NM_002419	NP_002410	Q16584	M3K11_HUMAN			1	1121	-			210			Protein kinase.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.628G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073565	0.36566	.	.	ENSG00000173327	ENST00000309100	D	0.93488	-3.23	3.92	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.090990	0.44902	D	0.000402	D	0.89174	0.6640	N	0.16016	0.355	0.80722	D	1	P	0.47910	0.902	P	0.52514	0.701	D	0.88492	0.3076	10	0.59425	D	0.04	.	7.3254	0.26553	0.0:0.8822:0.0:0.1178	.	210	Q16584	M3K11_HUMAN	M	210	ENSP00000309597:V210M	ENSP00000309597:V210M	V	-	1	0	MAP3K11	65137176	0.998000	0.40836	0.997000	0.53966	0.074000	0.17049	3.168000	0.50801	2.027000	0.59764	0.655000	0.94253	GTG		0.657	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		14	72	0	0	0	0	14	72				
ROBO3	64221	broad.mit.edu	37	11	124743756	124743756	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr11:124743756C>T	ENST00000397801.1	+	11	1974	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	ROBO3_ENST00000538940.1_Silent_p.F572F	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	594	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TAGAGGCCTTCAGGTATGGAG	0.498																																						uc001qbc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1780-1782)TTC>TTT		roundabout, axon guidance receptor, homolog 3							30.0	31.0	31.0					11																	124743756		1873	4114	5987	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743756C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1782C>T	11.37:g.124743756C>T						ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank	p.F594F	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	11	1974	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	594			Fibronectin type-III 1.|Extracellular (Potential).			Silent	SNP	ENST00000397801.1	37	c.1782C>T	CCDS44755.1																																																																																				0.498	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		15	14	0	0	0	0	15	14				
DDX47	51202	broad.mit.edu	37	12	12966313	12966313	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:12966313C>T	ENST00000358007.3	+	1	34	c.12C>T	c.(10-12)ccC>ccT	p.P4P	DDX47_ENST00000352940.4_Silent_p.P4P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	4					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGGCGGCACCCGAGGAACACG	0.567											OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rav.2		NA																	0					0						c.(10-12)CCC>CCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							48.0	44.0	46.0					12																	12966313		2203	4300	6503	SO:0001819	synonymous_variant	51202					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12966313C>T	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.12C>T	12.37:g.12966313C>T			OREG0021680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	DDX47_uc009zhw.1_Silent_p.P4P|DDX47_uc001rax.2_Silent_p.P4P|DDX47_uc001ray.2_Silent_p.P4P|DDX47_uc010shn.1_Silent_p.P4P	p.P4P	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	4	610	+		Prostate(47;0.0526)	4					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Silent	SNP	ENST00000358007.3	37	c.12C>T	CCDS8655.1																																																																																				0.567	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		6	42	0	0	0	0	6	42				
EMP1	2012	broad.mit.edu	37	12	13364446	13364446	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:13364446T>A	ENST00000256951.5	+	2	201	c.2T>A	c.(1-3)aTg>aAg	p.M1K	EMP1_ENST00000544053.1_Intron|EMP1_ENST00000542289.1_3'UTR|EMP1_ENST00000396301.3_Start_Codon_SNP_p.M1K|EMP1_ENST00000537612.1_Start_Codon_SNP_p.M1K|EMP1_ENST00000431267.2_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	1					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGAGCCAACATGTTGGTATTG	0.373																																						uc001rbr.2		NA																	0					0						c.(1-3)ATG>AAG		epithelial membrane protein 1							229.0	203.0	212.0					12																	13364446		2203	4300	6503	SO:0001582	initiator_codon_variant	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13364446T>A	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.2T>A	12.37:g.13364446T>A	ENSP00000256951:p.Met1Lys					EMP1_uc009zhy.2_Intron|EMP1_uc010shr.1_Missense_Mutation_p.M1K	p.M1K	NM_001423	NP_001414	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	249	+		Prostate(47;0.194)	1			Helical; (Potential).		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	ENST00000256951.5	37	c.2T>A	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883543	0.72410	.	.	ENSG00000134531	ENST00000256951;ENST00000542474;ENST00000538364;ENST00000396301;ENST00000537612	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	6.16	6.16	0.99307	.	0.069235	0.85682	D	0.000000	D	0.94703	0.8291	.	.	.	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95103	0.8232	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1;1	B4DRR1;P54849	.;EMP1_HUMAN	K	1	ENSP00000256951:M1K;ENSP00000441223:M1K;ENSP00000379595:M1K;ENSP00000445319:M1K	ENSP00000256951:M1K	M	+	2	0	EMP1	13255713	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	6.550000	0.73905	2.367000	0.80283	0.528000	0.53228	ATG		0.373	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423	Missense_Mutation	158	164	0	0	0	0	158	164				
BICD1	636	broad.mit.edu	37	12	32260449	32260449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:32260449C>T	ENST00000281474.5	+	1	287	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	BICD1_ENST00000548411.1_Missense_Mutation_p.L62F|BICD1_ENST00000551848.1_Missense_Mutation_p.L62F|BICD1_ENST00000550207.1_Missense_Mutation_p.L62F|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551086.1_Missense_Mutation_p.L62F	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	62					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)			GTACGACAGCCTCAAACAGGA	0.587																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(184-186)CTC>TTC		bicaudal D homolog 1 isoform 1							59.0	48.0	51.0					12																	32260449		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.chr12:32260449C>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.184C>T	12.37:g.32260449C>T	ENSP00000281474:p.Leu62Phe					BICD1_uc001rkv.2_Missense_Mutation_p.L62F|BICD1_uc010skd.1_RNA	p.L62F	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		1	265	+	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)		62			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.184C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845375	0.71603	.	.	ENSG00000151746	ENST00000551848;ENST00000550207;ENST00000548411;ENST00000281474;ENST00000551086	T;T;T;T;T	0.54866	0.55;0.55;0.76;0.75;0.55	4.44	4.44	0.53790	.	0.000000	0.53938	D	0.000053	T	0.48978	0.1530	L	0.46157	1.445	0.47183	D	0.999348	P;P	0.48911	0.911;0.917	B;B	0.44315	0.375;0.446	T	0.52571	-0.8558	10	0.49607	T	0.09	.	13.0744	0.59079	0.0:0.8387:0.1613:0.0	.	62;62	F8W113;Q96G01	.;BICD1_HUMAN	F	62	ENSP00000448933:L62F;ENSP00000447663:L62F;ENSP00000446793:L62F;ENSP00000281474:L62F;ENSP00000447238:L62F	ENSP00000281474:L62F	L	+	1	0	BICD1	32151716	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	2.587000	0.46128	2.305000	0.77605	0.655000	0.94253	CTC		0.587	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		9	9	0	0	0	0	9	9				
DNM1L	10059	broad.mit.edu	37	12	32895604	32895604	+	Silent	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:32895604A>G	ENST00000549701.1	+	19	2150	c.2076A>G	c.(2074-2076)aaA>aaG	p.K692K	DNM1L_ENST00000553257.1_Silent_p.K705K|DNM1L_ENST00000381000.4_Silent_p.K694K|DNM1L_ENST00000452533.2_Silent_p.K666K|DNM1L_ENST00000414834.2_Silent_p.K489K|DNM1L_ENST00000358214.5_Silent_p.K668K|DNM1L_ENST00000266481.6_Silent_p.K655K|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Silent_p.K681K			O00429	DNM1L_HUMAN	dynamin 1-like	692	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCTGTATAAATCATCCTTAT	0.408																																						uc001rld.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2074-2076)AAA>AAG		dynamin 1-like isoform 1							153.0	149.0	150.0					12																	32895604		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32895604A>G	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.2076A>G	12.37:g.32895604A>G						DNM1L_uc001rle.2_Silent_p.K666K|DNM1L_uc001rlf.2_Silent_p.K655K|DNM1L_uc010skh.1_Silent_p.K758K|DNM1L_uc001rlg.2_Silent_p.K747K|DNM1L_uc001rlh.2_Silent_p.K734K|DNM1L_uc010ski.1_Silent_p.K489K	p.K692K	NM_012062	NP_036192	O00429	DNM1L_HUMAN			19	2237	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		692			GED.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.2076A>G	CCDS8729.1																																																																																				0.408	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		147	135	0	0	0	0	147	135				
MYF5	4617	broad.mit.edu	37	12	81112691	81112691	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:81112691T>C	ENST00000228644.3	+	3	781	c.629T>C	c.(628-630)aTa>aCa	p.I210T		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	210					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TTATCCAACATAGTGGACCGG	0.458																																						uc001szg.2		NA																	0				ovary(1)	1						c.(628-630)ATA>ACA		myogenic factor 5							108.0	107.0	107.0					12																	81112691		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112691T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.629T>C	12.37:g.81112691T>C	ENSP00000228644:p.Ile210Thr						p.I210T	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	764	+			210					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.629T>C	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388393	0.82902	.	.	ENSG00000111049	ENST00000228644	D	0.99479	-5.98	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98021	1.0371	10	0.87932	D	0	-4.1817	15.5919	0.76537	0.0:0.0:0.0:1.0	.	210	P13349	MYF5_HUMAN	T	210	ENSP00000228644:I210T	ENSP00000228644:I210T	I	+	2	0	MYF5	79636822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.914000	0.75764	2.324000	0.78689	0.533000	0.62120	ATA		0.458	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		38	115	0	0	0	0	38	115				
RHOF	54509	broad.mit.edu	37	12	122219075	122219075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:122219075G>A	ENST00000267205.2	-	3	878	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537265.1_5'UTR|RHOF_ENST00000537171.1_Missense_Mutation_p.R84W	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	84					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GACAGGGGCCGCAGCCGGTCA	0.617																																						uc001ubb.2		NA																	0				ovary(1)	1						c.(250-252)CGG>TGG		ras homolog gene family, member F precursor							101.0	96.0	98.0					12																	122219075		2203	4300	6503	SO:0001583	missense	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122219075G>A	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.250C>T	12.37:g.122219075G>A	ENSP00000267205:p.Arg84Trp					TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.3_Missense_Mutation_p.R84W	p.R84W	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	305	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		84					Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	c.250C>T	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208467	0.79240	.	.	ENSG00000139725	ENST00000267205;ENST00000535560	T;T	0.71103	-0.54;-0.54	4.9	3.98	0.46160	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93345	0.6713	10	0.87932	D	0	.	14.3251	0.66515	0.0:0.0:0.8502:0.1498	.	84;84	Q9HBH0-2;Q9HBH0	.;RHOF_HUMAN	W	84	ENSP00000267205:R84W;ENSP00000440397:R84W	ENSP00000267205:R84W	R	-	1	2	RHOF	120703458	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.267000	0.51577	1.139000	0.42245	0.555000	0.69702	CGG		0.617	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			10	65	0	0	0	0	10	65				
WDR66	144406	broad.mit.edu	37	12	122413558	122413558	+	Missense_Mutation	SNP	G	G	A	rs561881922		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr12:122413558G>A	ENST00000288912.4	+	19	3827	c.2973G>A	c.(2971-2973)atG>atA	p.M991I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	991							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTTTTGTCATGAGAGCAATTG	0.443																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(2971-2973)ATG>ATA		WD repeat domain 66							122.0	113.0	116.0					12																	122413558		1918	4151	6069	SO:0001583	missense	144406						calcium ion binding	g.chr12:122413558G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2973G>A	12.37:g.122413558G>A	ENSP00000288912:p.Met991Ile						p.M991I	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	19	3115	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		991					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2973G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511872	0.85389	.	.	ENSG00000158023	ENST00000288912	T	0.79454	-1.27	5.05	5.05	0.67936	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	M	0.86953	2.85	0.80722	D	1	P	0.49090	0.919	P	0.48770	0.589	D	0.88733	0.3238	10	0.72032	D	0.01	.	18.4137	0.90561	0.0:0.0:1.0:0.0	.	991	Q8TBY9	WDR66_HUMAN	I	991	ENSP00000288912:M991I	ENSP00000288912:M991I	M	+	3	0	WDR66	120897941	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.132000	0.89603	2.341000	0.79615	0.561000	0.74099	ATG		0.443	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		15	102	0	0	0	0	15	102				
ATP8A2	51761	broad.mit.edu	37	13	26273327	26273327	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:26273327T>G	ENST00000381655.2	+	25	2370	c.2228T>G	c.(2227-2229)aTt>aGt	p.I743S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.I703S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	703					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGGCAGCCATTACTCAGCAC	0.428																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2227-2229)ATT>AGT		ATPase, aminophospholipid transporter-like,							81.0	75.0	77.0					13																	26273327		1958	4133	6091	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273327T>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2228T>G	13.37:g.26273327T>G	ENSP00000371070:p.Ile743Ser					ATP8A2_uc010tdi.1_Missense_Mutation_p.I703S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.I293S	p.I743S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2370	+		Breast(139;0.0201)|Lung SC(185;0.0225)	703			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2228T>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801221	0.90538	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.72942	-0.7;-0.7	5.88	5.88	0.94601	HAD-like domain (1);	0.065034	0.64402	D	0.000014	T	0.82061	0.4955	M	0.70903	2.155	0.58432	D	0.999997	P;P;P	0.50272	0.933;0.904;0.933	P;P;P	0.60068	0.868;0.791;0.868	D	0.83992	0.0338	10	0.87932	D	0	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	703;523;703	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	743;703;523	ENSP00000371070:I743S;ENSP00000255283:I703S	ENSP00000255283:I703S	I	+	2	0	ATP8A2	25171327	1.000000	0.71417	0.980000	0.43619	0.986000	0.74619	8.002000	0.88514	2.250000	0.74265	0.533000	0.62120	ATT		0.428	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		11	101	0	0	0	0	11	101				
PCDH20	64881	broad.mit.edu	37	13	61986457	61986457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:61986457G>A	ENST00000409186.1	-	5	3880	c.1775C>T	c.(1774-1776)aCa>aTa	p.T592I	PCDH20_ENST00000409204.4_Missense_Mutation_p.T592I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	592	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTAGAAACTGTCAGAATTCC	0.473																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1774-1776)ACA>ATA		protocadherin 20							97.0	98.0	98.0					13																	61986457		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986457G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1775C>T	13.37:g.61986457G>A	ENSP00000386653:p.Thr592Ile					PCDH20_uc010thj.1_Missense_Mutation_p.T592I	p.T592I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2139	-		Breast(118;0.195)|Prostate(109;0.229)	565			Extracellular (Potential).|Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1775C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325502	0.24080	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01821	4.62;4.62	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000004	T	0.04182	0.0116	M	0.67625	2.065	0.58432	D	0.999997	B	0.24768	0.111	B	0.25614	0.062	T	0.52290	-0.8595	10	0.24483	T	0.36	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	592	A8K1K9	.	I	592;592;338	ENSP00000387250:T592I;ENSP00000386653:T592I	ENSP00000351500:T338I	T	-	2	0	PCDH20	60884458	1.000000	0.71417	0.897000	0.35233	0.389000	0.30415	6.580000	0.74040	2.880000	0.98712	0.650000	0.86243	ACA		0.473	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		22	213	0	0	0	0	22	213				
LMO7	4008	broad.mit.edu	37	13	76391321	76391321	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr13:76391321C>T	ENST00000321797.8	+	10	1993	c.1272C>T	c.(1270-1272)agC>agT	p.S424S	LMO7_ENST00000357063.3_Silent_p.S709S|LMO7_ENST00000526202.1_Silent_p.S274S|LMO7_ENST00000341547.4_Silent_p.S375S|LMO7_ENST00000377534.3_Silent_p.S709S|LMO7_ENST00000465261.2_Silent_p.S424S			Q8WWI1	LMO7_HUMAN	LIM domain 7	709					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GTGATGTCAGCGCAGAAGATG	0.408																																						uc001vjv.2		NA																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(1270-1272)AGC>AGT		LIM domain only 7 isoform 2							182.0	159.0	167.0					13																	76391321		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76391321C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1272C>T	13.37:g.76391321C>T						LMO7_uc010thv.1_Silent_p.S375S|LMO7_uc001vjt.1_Silent_p.S323S|LMO7_uc010thw.1_Silent_p.S274S|LMO7_uc001vjw.1_Silent_p.S330S	p.S424S	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	9	2032	+		Breast(118;0.0992)	709					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.1272C>T		.	.	.	.	.	.	.	.	.	.	C	9.074	0.997570	0.19043	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.51	-1.36	0.09085	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.51767	D	0.999934	.	.	.	.	.	.	T	0.55237	-0.8172	4	.	.	.	-11.7638	11.6196	0.51111	0.0:0.4282:0.0:0.5718	.	.	.	.	C	333	.	.	R	+	1	0	LMO7	75289322	0.001000	0.12720	0.979000	0.43373	0.964000	0.63967	-0.559000	0.05971	-0.195000	0.10382	-0.215000	0.12644	CGC		0.408	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		30	112	0	0	0	0	30	112				
MDGA2	161357	broad.mit.edu	37	14	47426843	47426843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:47426843G>C	ENST00000399232.2	-	9	1980	c.1616C>G	c.(1615-1617)cCc>cGc	p.P539R	MDGA2_ENST00000357362.3_Missense_Mutation_p.P310R|MDGA2_ENST00000426342.1_Missense_Mutation_p.P310R|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000439988.3_Missense_Mutation_p.P608R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	539					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CACTGCAGGGGGATCTGTAGA	0.438																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1615-1617)CCC>CGC		MAM domain containing 1 isoform 1							70.0	66.0	67.0					14																	47426843		1890	4112	6002	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426843G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1616C>G	14.37:g.47426843G>C	ENSP00000382178:p.Pro539Arg					MDGA2_uc001wwi.3_Missense_Mutation_p.P310R|MDGA2_uc010ani.2_Missense_Mutation_p.P99R	p.P539R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			9	1812	-			539					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1616C>G		.	.	.	.	.	.	.	.	.	.	G	22.9	4.351436	0.82132	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.32	5.32	0.75619	Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000090	T	0.46619	0.1402	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	T	0.43653	-0.9378	10	0.72032	D	0.01	.	17.5607	0.87906	0.0:0.0:1.0:0.0	.	310;539	F6W3S7;Q7Z553	.;MDGA2_HUMAN	R	539;310;608;310	ENSP00000400011:P539R;ENSP00000405456:P310R;ENSP00000382178:P608R;ENSP00000349925:P310R	ENSP00000349925:P310R	P	-	2	0	MDGA2	46496593	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	9.080000	0.94040	2.488000	0.83962	0.650000	0.86243	CCC		0.438	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		18	128	0	0	0	0	18	128				
TRIP11	9321	broad.mit.edu	37	14	92472287	92472287	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:92472287T>A	ENST00000267622.4	-	11	2406	c.2033A>T	c.(2032-2034)gAa>gTa	p.E678V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	678					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTCATTTTCCATTTTGAC	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2032-2034)GAA>GTA		thyroid hormone receptor interactor 11							49.0	52.0	51.0					14																	92472287		2202	4295	6497	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472287T>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2033A>T	14.37:g.92472287T>A	ENSP00000267622:p.Glu678Val					TRIP11_uc010auf.1_Missense_Mutation_p.E414V	p.E678V	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2821	-			678			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2033A>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932240	0.73442	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05649	3.41	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	T	0.00392	-1.1768	10	0.42905	T	0.14	.	16.3782	0.83418	0.0:0.0:0.0:1.0	.	414;678	F5H1Z0;Q15643	.;TRIPB_HUMAN	V	678;414	ENSP00000267622:E678V	ENSP00000267622:E678V	E	-	2	0	TRIP11	91542040	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.940000	0.70187	2.277000	0.76020	0.528000	0.53228	GAA		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			21	128	0	0	0	0	21	128				
CEP170B	283638	broad.mit.edu	37	14	105359860	105359860	+	Splice_Site	SNP	C	C	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:105359860C>G	ENST00000414716.3	+	15	4267	c.4039C>G	c.(4039-4041)Ctg>Gtg	p.L1347V	CEP170B_ENST00000418279.1_Splice_Site_p.L1277V|CEP170B_ENST00000453495.1_Splice_Site_p.L1383V|CEP170B_ENST00000556508.1_Splice_Site_p.L1312V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1382						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCTCTTGCAGCTGGTGCAGCG	0.672																																						uc010axb.2		NA																	0				breast(1)	1						c.(4039-4041)CTG>GTG		hypothetical protein LOC283638 isoform 1							9.0	11.0	10.0					14																	105359860		2085	4183	6268	SO:0001630	splice_region_variant	283638					cytoplasm|microtubule		g.chr14:105359860C>G	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4039-1C>G	14.37:g.105359860C>G						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1277V|KIAA0284_uc001yps.2_Missense_Mutation_p.L1288V|KIAA0284_uc001ypt.2_Missense_Mutation_p.L15V	p.L1347V	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	15	4263	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1382					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4039C>G	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080845	0.36758	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.60920	0.24;0.19;0.21;0.15	3.83	2.93	0.34026	.	0.240616	0.27956	N	0.017178	T	0.48943	0.1528	L	0.58669	1.825	0.36436	D	0.865209	P;P;B	0.43662	0.814;0.666;0.112	B;B;B	0.42214	0.38;0.112;0.029	T	0.53837	-0.8382	9	.	.	.	-14.3881	4.0697	0.09876	0.0:0.594:0.2439:0.1621	.	1347;1382;1277	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1312;1347;1383;1277;15	ENSP00000451249:L1312V;ENSP00000404151:L1347V;ENSP00000407238:L1383V;ENSP00000415006:L1277V	.	L	+	1	2	KIAA0284	104430905	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	0.788000	0.26872	0.936000	0.37367	0.430000	0.28490	CTG		0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	Missense_Mutation	2	1	0	0	0	0	2	1				
CRTC3	64784	broad.mit.edu	37	15	91181740	91181740	+	Silent	SNP	G	G	A	rs373810754		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:91181740G>A	ENST00000268184.6	+	12	1333	c.1329G>A	c.(1327-1329)tcG>tcA	p.S443S	CRTC3_ENST00000420329.2_Silent_p.S443S|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	443					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCAGGTGTCGCCGCCACCCC	0.632			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1327-1329)TCG>TCA		transducer of regulated CREB protein 3 isoform		G	,	0,4396		0,0,2198	72.0	72.0	72.0		1329,1329	-2.0	1.0	15		72	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CRTC3	NM_001042574.1,NM_022769.3	,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,	443/619,443/620	91181740	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91181740G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1329G>A	15.37:g.91181740G>A						CRTC3_uc002bpo.2_Silent_p.S443S	p.S443S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		12	1435	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		443					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.1329G>A	CCDS32331.1																																																																																				0.632	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		14	93	0	0	0	0	14	93				
CHD2	1106	broad.mit.edu	37	15	93510590	93510590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:93510590G>T	ENST00000394196.4	+	17	3104	c.2036G>T	c.(2035-2037)gGg>gTg	p.G679V	CHD2_ENST00000557381.1_Missense_Mutation_p.G679V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	679					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGACCATGGGAAGGGGAGA	0.398																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2035-2037)GGG>GTG		chromodomain helicase DNA binding protein 2							51.0	51.0	51.0					15																	93510590		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93510590G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2036G>T	15.37:g.93510590G>T	ENSP00000377747:p.Gly679Val					CHD2_uc002bso.1_Missense_Mutation_p.G679V	p.G679V	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		17	2611	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		679					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2036G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984190	0.93044	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92647	-3.08;-3.08	5.83	5.83	0.93111	SNF2-related (1);	0.000000	0.34580	U	0.003849	D	0.93249	0.7849	L	0.41079	1.255	0.80722	D	1	D;P	0.55385	0.971;0.93	P;P	0.55713	0.782;0.718	D	0.93577	0.6909	10	0.87932	D	0	-28.0669	20.115	0.97926	0.0:0.0:1.0:0.0	.	679;679	O14647;O14647-2	CHD2_HUMAN;.	V	679	ENSP00000377747:G679V;ENSP00000451366:G679V	ENSP00000377747:G679V	G	+	2	0	CHD2	91311594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.761000	0.94854	0.650000	0.86243	GGG		0.398	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		11	72	1	0	1.5e-05	1.64e-05	11	72				
PRSS36	146547	broad.mit.edu	37	16	31154165	31154165	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:31154165C>T	ENST00000268281.4	-	9	1308	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	PRSS36_ENST00000569305.1_Missense_Mutation_p.R417H|PRSS36_ENST00000418068.2_Missense_Mutation_p.R417H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	417	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACGGGCGTGCGCAGCTGCAG	0.751																																						uc002ebd.2		NA																	0				ovary(1)	1						c.(1249-1251)CGC>CAC		protease, serine, 36 precursor							7.0	9.0	9.0					16																	31154165		2124	4184	6308	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31154165C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1250G>A	16.37:g.31154165C>T	ENSP00000268281:p.Arg417His					PRSS36_uc010vff.1_Missense_Mutation_p.R192H|PRSS36_uc010vfg.1_Missense_Mutation_p.R417H|PRSS36_uc010vfh.1_Missense_Mutation_p.R417H	p.R417H	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			9	1309	-			417			Peptidase S1 2.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1250G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071450	0.76301	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88896	-2.44;-2.44	4.67	2.27	0.28462	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88104	0.6347	L	0.53671	1.685	0.09310	N	0.999995	D;D;D	0.58620	0.958;0.983;0.983	B;P;P	0.51266	0.282;0.664;0.664	T	0.78494	-0.2182	9	0.54805	T	0.06	.	7.1486	0.25597	0.0:0.7274:0.0:0.2726	.	417;417;417	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	H	417	ENSP00000268281:R417H;ENSP00000407160:R417H	ENSP00000268281:R417H	R	-	2	0	PRSS36	31061666	0.000000	0.05858	0.935000	0.37517	0.953000	0.61014	-0.403000	0.07214	1.075000	0.40932	0.585000	0.79938	CGC		0.751	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		6	18	0	0	0	0	6	18				
ADCY7	113	broad.mit.edu	37	16	50339755	50339755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:50339755C>T	ENST00000394697.2	+	14	2087	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	ADCY7_ENST00000538642.1_Missense_Mutation_p.R583C|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.R583C|ADCY7_ENST00000254235.3_Missense_Mutation_p.R583C			P51828	ADCY7_HUMAN	adenylate cyclase 7	583					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGGCTTTGAGCGCGAGGTGAG	0.677																																						uc002egd.1		NA																	0				skin(1)	1						c.(1747-1749)CGC>TGC		adenylate cyclase 7	Bromocriptine(DB01200)						47.0	45.0	46.0					16																	50339755		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339755C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1747C>T	16.37:g.50339755C>T	ENSP00000378187:p.Arg583Cys					ADCY7_uc002egc.1_Missense_Mutation_p.R583C	p.R583C	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	13	2015	+		all_cancers(37;0.0127)	583			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1747C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185383	0.78677	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.78126	-1.15;-1.15;-1.15	5.34	1.91	0.25777	.	0.581491	0.12396	U	0.472558	T	0.81479	0.4831	L	0.51422	1.61	0.80722	D	1	D;D	0.63880	0.967;0.993	P;P	0.58520	0.697;0.84	T	0.78336	-0.2243	10	0.48119	T	0.1	.	12.5143	0.56024	0.6876:0.3124:0.0:0.0	.	583;583	P51828;F5H4D1	ADCY7_HUMAN;.	C	583	ENSP00000445046:R583C;ENSP00000378187:R583C;ENSP00000254235:R583C	ENSP00000254235:R583C	R	+	1	0	ADCY7	48897256	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	2.566000	0.45948	0.553000	0.29044	0.591000	0.81541	CGC		0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			9	53	0	0	0	0	9	53				
DPEP3	64180	broad.mit.edu	37	16	68011603	68011603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:68011603C>T	ENST00000268793.4	-	6	1334	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	296					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGTCACACACAGCTCTGGCA	0.483																																						uc002evc.3		NA																	0				breast(3)	3						c.(961-963)GTG>ATG		dipeptidase 3 isoform a							59.0	51.0	54.0					16																	68011603		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68011603C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.961G>A	16.37:g.68011603C>T	ENSP00000268793:p.Val321Met					DPEP3_uc010cex.2_Missense_Mutation_p.V321M	p.V321M	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	6	1055	-		Ovarian(137;0.192)	296					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.961G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627182	0.28978	.	.	ENSG00000141096	ENST00000268793	T	0.26067	1.76	4.41	4.41	0.53225	.	0.291855	0.33712	N	0.004631	T	0.44726	0.1307	M	0.85777	2.775	0.09310	N	0.999998	D	0.56968	0.978	P	0.57720	0.826	T	0.46414	-0.9193	10	0.87932	D	0	-2.1305	6.1734	0.20431	0.0:0.7085:0.192:0.0995	.	296	Q9H4B8	DPEP3_HUMAN	M	321	ENSP00000268793:V321M	ENSP00000268793:V321M	V	-	1	0	DPEP3	66569104	0.000000	0.05858	0.034000	0.17996	0.247000	0.25773	-0.410000	0.07151	2.287000	0.76781	0.555000	0.69702	GTG		0.483	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		9	36	0	0	0	0	9	36				
PLCG2	5336	broad.mit.edu	37	16	81927341	81927341	+	Silent	SNP	C	C	T	rs200149635		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr16:81927341C>T	ENST00000359376.3	+	12	1228	c.1014C>T	c.(1012-1014)agC>agT	p.S338S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	338	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCGGAGCGAGTCGTCCC	0.617																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1012-1014)AGC>AGT		phospholipase C, gamma 2							60.0	63.0	62.0					16																	81927341		2162	4279	6441	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81927341C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1014C>T	16.37:g.81927341C>T						PLCG2_uc010chg.1_Silent_p.S338S	p.S338S	NM_002661	NP_002652	P16885	PLCG2_HUMAN			12	1166	+			338			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1014C>T	CCDS42204.1																																																																																				0.617	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			11	78	0	0	0	0	11	78				
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	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.(583-585)ATC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	89.0	93.0					17																	7578265		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.chr17:7578265A>G	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	p.I195T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	50	0	0	0	0	25	50				
ARSG	22901	broad.mit.edu	37	17	66366598	66366598	+	Silent	SNP	G	G	A	rs555265466		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:66366598G>A	ENST00000448504.2	+	8	1711	c.915G>A	c.(913-915)ccG>ccA	p.P305P	ARSG_ENST00000452479.2_Silent_p.P141P|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	305					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATGGCCCGTGGGCTCAGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18930	0.001		0.0	False		,,,				2504	0.0					uc002jhc.2		NA																	0				ovary(1)	1						c.(913-915)CCG>CCA		Arylsulfatase G precursor							105.0	91.0	96.0					17																	66366598		2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66366598G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.915G>A	17.37:g.66366598G>A						ARSG_uc002jhb.1_Silent_p.P141P	p.P305P	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	1711	+			305					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.915G>A	CCDS11676.1																																																																																				0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		10	61	0	0	0	0	10	61				
CASKIN2	57513	broad.mit.edu	37	17	73497569	73497569	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr17:73497569A>C	ENST00000321617.3	-	19	4084	c.3498T>G	c.(3496-3498)atT>atG	p.I1166M	CASKIN2_ENST00000433559.2_Missense_Mutation_p.I1084M	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1166						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTGGTGCCAATGCTCTTCT	0.647																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(3496-3498)ATT>ATG		cask-interacting protein 2 isoform a							73.0	83.0	79.0					17																	73497569		2189	4257	6446	SO:0001583	missense	57513					cytoplasm		g.chr17:73497569A>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3498T>G	17.37:g.73497569A>C	ENSP00000325355:p.Ile1166Met					CASKIN2_uc010wsc.1_Missense_Mutation_p.I1084M	p.I1166M	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	4048	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1166					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3498T>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255411	0.39896	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.78003	-1.14;-0.97	5.61	0.612	0.17591	.	0.000000	0.47455	D	0.000237	T	0.81541	0.4844	M	0.69823	2.125	0.39560	D	0.969114	D	0.67145	0.996	P	0.56700	0.804	T	0.81269	-0.1009	10	0.59425	D	0.04	.	10.5592	0.45135	0.6278:0.0:0.3722:0.0	.	1166	Q8WXE0	CSKI2_HUMAN	M	1166;1084	ENSP00000325355:I1166M;ENSP00000406963:I1084M	ENSP00000325355:I1166M	I	-	3	3	CASKIN2	71009164	0.008000	0.16893	0.410000	0.26471	0.262000	0.26303	0.082000	0.14847	0.090000	0.17273	-0.326000	0.08463	ATT		0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		24	146	0	0	0	0	24	146				
CEP192	55125	broad.mit.edu	37	18	13056573	13056573	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr18:13056573C>T	ENST00000325971.8	+	17	3789	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	CEP192_ENST00000506447.1_Silent_p.L1328L|CEP192_ENST00000430049.2_Silent_p.L853L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	732					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCTTCCCTCTGTAACCCAT	0.468																																						uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(3982-3984)CTC>CTT		centrosomal protein 192kDa							119.0	118.0	118.0					18																	13056573		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13056573C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2196C>T	18.37:g.13056573C>T						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L853L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.L1069L	p.L1328L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			19	4064	+			1328					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.3984C>T																																																																																					0.468	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	218	0	0	0	0	36	218				
POTEC	388468	broad.mit.edu	37	18	14542737	14542737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr18:14542737G>A	ENST00000358970.5	-	1	408	c.409C>T	c.(409-411)Cga>Tga	p.R137*	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	137								p.R137*(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGATCTTCTCGACGGACGTGG	0.602																																						uc010dln.2		NA																	1	Substitution - Nonsense(1)		skin(1)	skin(3)	3						c.(409-411)CGA>TGA		ANKRD26-like family B, member 2							41.0	53.0	49.0					18																	14542737		692	1590	2282	SO:0001587	stop_gained	388468							g.chr18:14542737G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.409C>T	18.37:g.14542737G>A	ENSP00000351856:p.Arg137*					POTEC_uc010xaj.1_RNA	p.R137*	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	863	-			137						Nonsense_Mutation	SNP	ENST00000358970.5	37	c.409C>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385105	0.95967	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	.	.	.	1.03	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.1578	0.31180	0.0:0.5593:0.4407:0.0	.	.	.	.	X	137	.	ENSP00000351856:R137X	R	-	1	2	POTEC	14532737	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.035000	0.03564	-1.720000	0.01380	-1.086000	0.02197	CGA		0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		28	159	0	0	0	0	28	159				
ZNF414	84330	broad.mit.edu	37	19	8577310	8577310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:8577310G>A	ENST00000255616.8	-	4	592	c.491C>T	c.(490-492)gCt>gTt	p.A164V	ZNF414_ENST00000393927.4_Missense_Mutation_p.A164V	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						TTTGCTGTGAGCCACCAGCTC	0.587																																						uc002mkf.2		NA																	0					0						c.(490-492)GCT>GTT		zinc finger protein 414 isoform 2							192.0	162.0	172.0					19																	8577310		2203	4300	6503	SO:0001583	missense	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8577310G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.491C>T	19.37:g.8577310G>A	ENSP00000255616:p.Ala164Val					ZNF414_uc002mke.3_Missense_Mutation_p.A164V|ZNF414_uc010dwf.2_Missense_Mutation_p.A153V	p.A164V	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN			4	609	-			164			C2H2-type 2.		A8MY94	Missense_Mutation	SNP	ENST00000255616.8	37	c.491C>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522513	0.85600	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	T;T	0.09163	3.01;3.01	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.237683	0.34959	N	0.003558	T	0.18759	0.0450	N	0.20357	0.565	0.34624	D	0.718898	D;D	0.64830	0.969;0.994	P;D	0.75020	0.795;0.985	T	0.18618	-1.0331	10	0.37606	T	0.19	-14.466	15.2043	0.73165	0.0:0.0:1.0:0.0	.	164;164	Q96IQ9;A8MY94	ZN414_HUMAN;.	V	164	ENSP00000377504:A164V;ENSP00000255616:A164V	ENSP00000255616:A164V	A	-	2	0	ZNF414	8483310	0.996000	0.38824	0.971000	0.41717	0.482000	0.33219	2.613000	0.46351	2.432000	0.82394	0.561000	0.74099	GCT		0.587	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		36	96	0	0	0	0	36	96				
CCDC97	90324	broad.mit.edu	37	19	41825480	41825480	+	Splice_Site	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:41825480G>A	ENST00000269967.3	+	3	626	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	168										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TCTGTGCAGGGGGCGAGTACT	0.572																																						uc002oqg.2		NA																	0					0						c.(502-504)GGG>GGA		coiled-coil domain containing 97							93.0	83.0	86.0					19																	41825480		2203	4300	6503	SO:0001630	splice_region_variant	90324							g.chr19:41825480G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.503-1G>A	19.37:g.41825480G>A						CYP2F1_uc010xvw.1_Intron	p.G168G	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			3	626	+			168					Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	c.504G>A	CCDS12578.1																																																																																				0.572	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848	Silent	23	176	0	0	0	0	23	176				
TPRX1	284355	broad.mit.edu	37	19	48305393	48305393	+	Missense_Mutation	SNP	C	C	A	rs376802611		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr19:48305393C>A	ENST00000322175.3	-	2	1030	c.875G>T	c.(874-876)cGg>cTg	p.R292L	TPRX1_ENST00000543508.1_Missense_Mutation_p.R282L|TPRX1_ENST00000535759.1_Missense_Mutation_p.R389L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	292	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCTTCGCATCCGGCCAGGACT	0.642																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NA																	0					0						c.(874-876)CGG>CTG		tetra-peptide repeat homeobox							25.0	26.0	26.0					19																	48305393		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305393C>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.875G>T	19.37:g.48305393C>A	ENSP00000323455:p.Arg292Leu						p.R292L	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	946	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	292			Gly-rich.		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.875G>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	c	3.107	-0.183483	0.06340	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.91740	-1.72;-2.9	0.938	-1.88	0.07713	.	.	.	.	.	T	0.78394	0.4276	N	0.08118	0	0.09310	N	1	B	0.27013	0.166	B	0.16289	0.015	T	0.59778	-0.7390	9	0.49607	T	0.09	.	3.6774	0.08297	0.0:0.2785:0.2061:0.5155	.	292	Q8N7U7	TPRX1_HUMAN	L	292;389;282	ENSP00000323455:R292L;ENSP00000438832:R389L	ENSP00000323455:R292L	R	-	2	0	TPRX1	52997205	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.687000	0.00104	-2.238000	0.00712	-1.174000	0.01732	CGG		0.642	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		37	53	1	0	6.97e-18	8.13e-18	37	53				
NTSR2	23620	broad.mit.edu	37	2	11802234	11802234	+	Missense_Mutation	SNP	G	G	A	rs148798482	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:11802234G>A	ENST00000306928.5	-	2	791	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	253					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGCTCCAGGCGGCTGGGGGTG	0.597																																						uc002rbq.3		NA																	0					0						c.(757-759)CGC>TGC		neurotensin receptor 2	Levocabastine(DB01106)						68.0	82.0	78.0					2																	11802234		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802234G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.757C>T	2.37:g.11802234G>A	ENSP00000303686:p.Arg253Cys						p.R253C	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	831	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		253			Cytoplasmic (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.757C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945073	0.53079	.	.	ENSG00000169006	ENST00000306928	T	0.74947	-0.89	4.32	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66915	0.2838	L	0.61036	1.89	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.57142	-0.7862	9	0.41790	T	0.15	-2.2314	5.5847	0.17267	0.2431:0.0:0.7569:0.0	.	253	O95665	NTR2_HUMAN	C	253	ENSP00000303686:R253C	ENSP00000303686:R253C	R	-	1	0	NTSR2	11719685	0.546000	0.26457	0.289000	0.24876	0.796000	0.44982	1.511000	0.35801	1.105000	0.41606	0.462000	0.41574	CGC		0.597	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			51	153	0	0	0	0	51	153				
ADCY3	109	broad.mit.edu	37	2	25059788	25059788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:25059788G>A	ENST00000260600.5	-	8	2511	c.1660C>T	c.(1660-1662)Cag>Tag	p.Q554*	ADCY3_ENST00000405392.1_Nonsense_Mutation_p.Q187*	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	554					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)					GCACATACCTGGGCATCCTGC	0.642																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(1660-1662)CAG>TAG		adenylate cyclase 3							48.0	45.0	46.0					2																	25059788		2203	4300	6503	SO:0001587	stop_gained	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.chr2:25059788G>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.1660C>T	2.37:g.25059788G>A	ENSP00000260600:p.Gln554*					ADCY3_uc002rfr.3_Nonsense_Mutation_p.Q187*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.Q554*	p.Q554*	NM_004036	NP_004027	O60266	ADCY3_HUMAN			8	1859	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		554			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Nonsense_Mutation	SNP	ENST00000260600.5	37	c.1660C>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372747	0.99151	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027	.	.	.	5.4	4.52	0.55395	.	0.285487	0.34088	N	0.004265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	9.1666	0.37054	0.0:0.1597:0.6747:0.1656	.	.	.	.	X	554;187;529;180	.	ENSP00000260600:Q554X	Q	-	1	0	ADCY3	24913292	1.000000	0.71417	0.999000	0.59377	0.122000	0.20287	1.719000	0.38011	1.266000	0.44231	0.650000	0.86243	CAG		0.642	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			9	78	0	0	0	0	9	78				
DNAJC27	51277	broad.mit.edu	37	2	25170613	25170613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:25170613C>T	ENST00000264711.2	-	7	883	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	DNAJC27_ENST00000534855.1_Missense_Mutation_p.E161K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	232	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATTGACTTCATCCCTGGGA	0.453																																						uc002rft.1		NA																	0				skin(1)	1						c.(694-696)GAA>AAA		DnaJ (Hsp40) homolog, subfamily C, member 27							129.0	117.0	121.0					2																	25170613		2203	4300	6503	SO:0001583	missense	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25170613C>T		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.694G>A	2.37:g.25170613C>T	ENSP00000264711:p.Glu232Lys					DNAJC27_uc010ykn.1_Missense_Mutation_p.E161K|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.*178*	p.E232K	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN			7	745	-			232			J.		Q5JV88|Q86Y24	Missense_Mutation	SNP	ENST00000264711.2	37	c.694G>A	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	C	36	5.685777	0.96784	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.28895	1.59;1.59	5.42	5.42	0.78866	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.58584	-0.7611	9	0.59425	D	0.04	-30.295	17.816	0.88634	0.0:1.0:0.0:0.0	.	232	Q9NZQ0	DJC27_HUMAN	K	232;161	ENSP00000264711:E232K;ENSP00000440086:E161K	ENSP00000264711:E232K	E	-	1	0	DNAJC27	25024117	1.000000	0.71417	0.993000	0.49108	0.934000	0.57294	7.127000	0.77210	2.542000	0.85734	0.655000	0.94253	GAA		0.453	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		21	100	0	0	0	0	21	100				
TTC7A	57217	broad.mit.edu	37	2	47278895	47278895	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:47278895G>A	ENST00000319190.5	+	18	2396	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R	TTC7A_ENST00000394850.2_Silent_p.R700R|TTC7A_ENST00000263737.6_Silent_p.R322R|TTC7A_ENST00000409245.1_Silent_p.R642R	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	676					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTCCCGGCGGGCTTCGTCCA	0.667																																						uc002rvo.2		NA																	0				breast(1)|skin(1)	2						c.(2026-2028)CGG>CGA		tetratricopeptide repeat domain 7A							46.0	49.0	48.0					2																	47278895		2184	4266	6450	SO:0001819	synonymous_variant	57217						binding	g.chr2:47278895G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2028G>A	2.37:g.47278895G>A						TTC7A_uc002rvm.2_Silent_p.R642R|TTC7A_uc010fbb.2_Silent_p.R700R|TTC7A_uc010fbc.2_Silent_p.R322R|TTC7A_uc002rvp.2_Silent_p.R557R|TTC7A_uc002rvq.2_Silent_p.R416R|TTC7A_uc002rvr.2_Silent_p.R125R	p.R676R	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2396	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	676					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.2028G>A	CCDS33193.1																																																																																				0.667	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		17	105	0	0	0	0	17	105				
STON1	11037	broad.mit.edu	37	2	48809175	48809175	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:48809175A>T	ENST00000406226.1	+	3	1598	c.1403A>T	c.(1402-1404)gAa>gTa	p.E468V	STON1_ENST00000309835.3_Missense_Mutation_p.E468V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E468V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E468V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E468V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E468V|STON1_ENST00000404752.1_Missense_Mutation_p.E468V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E468V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	468	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCGAGATGAATCCTATTAT	0.373																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1402-1404)GAA>GTA		stonin 1							116.0	122.0	120.0					2																	48809175		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809175A>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1403A>T	2.37:g.48809175A>T	ENSP00000384615:p.Glu468Val					STON1_uc002rwo.3_Missense_Mutation_p.E468V|STON1_uc010fbm.2_Missense_Mutation_p.E468V|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.E468V|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.E468V	p.E468V	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1450	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	468					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1403A>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	9.682	1.149465	0.21288	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.3	2.96	0.34315	Clathrin adaptor, mu subunit, C-terminal (3);	0.554178	0.21819	N	0.068646	T	0.24275	0.0588	L	0.43152	1.355	0.27913	N	0.938544	P;P;P	0.50710	0.938;0.876;0.917	P;B;P	0.52267	0.694;0.361;0.56	T	0.07712	-1.0758	10	0.87932	D	0	.	5.4882	0.16761	0.6915:0.1607:0.1478:0.0	.	468;468;468	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	V	468	ENSP00000385273:E468V;ENSP00000384615:E468V;ENSP00000310969:E468V;ENSP00000385499:E468V;ENSP00000385701:E468V;ENSP00000378236:E468V;ENSP00000311493:E468V;ENSP00000378234:E468V	ENSP00000310969:E468V	E	+	2	0	STON1-GTF2A1L;STON1	48662679	0.933000	0.31639	0.561000	0.28357	0.165000	0.22458	2.170000	0.42443	0.481000	0.27557	-0.331000	0.08364	GAA		0.373	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		32	197	0	0	0	0	32	197				
MYO7B	4648	broad.mit.edu	37	2	128387389	128387389	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:128387389G>A	ENST00000409816.2	+	33	4748	c.4716G>A	c.(4714-4716)tcG>tcA	p.S1572S	MYO7B_ENST00000389524.4_Silent_p.S1572S|MYO7B_ENST00000428314.1_Silent_p.S1572S|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Silent_p.S425S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1572						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTAAGCCCTCGGCACAGCTGC	0.642																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(4714-4716)TCG>TCA		myosin VIIB							52.0	60.0	57.0					2																	128387389		2084	4209	6293	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128387389G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4716G>A	2.37:g.128387389G>A						MYO7B_uc002tor.1_Silent_p.S425S	p.S1572S	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	34	4769	+	Colorectal(110;0.1)		1572					Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.4716G>A	CCDS46405.1																																																																																				0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		9	43	0	0	0	0	9	43				
XIRP2	129446	broad.mit.edu	37	2	168105922	168105922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:168105922G>A	ENST00000409195.1	+	9	8109	c.8020G>A	c.(8020-8022)Gaa>Aaa	p.E2674K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2452K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2674K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2499					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E2674K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAGCTTGCGAAATTAAACA	0.398																																						uc002udx.2		NA																	1	Substitution - Missense(1)		prostate(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8020-8022)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							59.0	57.0	58.0					2																	168105922		1867	4089	5956	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105922G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8020G>A	2.37:g.168105922G>A	ENSP00000386840:p.Glu2674Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2499K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2452K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E20K	p.E2674K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8038	+			2499					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8020G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715177	0.48622	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	6.07	4.25	0.50352	.	0.514845	0.20646	N	0.088317	T	0.04998	0.0134	M	0.63428	1.95	0.25573	N	0.98687	P;D;P	0.55605	0.952;0.972;0.777	B;P;B	0.45099	0.278;0.469;0.137	T	0.32322	-0.9911	10	0.49607	T	0.09	-13.2518	7.9312	0.29904	0.0907:0.2408:0.6685:0.0	.	2499;2499;2452	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2674;2674;2452;88	ENSP00000386840:E2674K;ENSP00000295237:E2674K;ENSP00000387255:E2452K	ENSP00000295237:E2674K	E	+	1	0	XIRP2	167814168	0.116000	0.22171	0.192000	0.23308	0.768000	0.43524	3.255000	0.51484	1.578000	0.49821	0.655000	0.94253	GAA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		38	121	0	0	0	0	38	121				
TTN	7273	broad.mit.edu	37	2	179435824	179435824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:179435824C>T	ENST00000591111.1	-	276	70336	c.70112G>A	c.(70111-70113)cGg>cAg	p.R23371Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25012Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16139Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22444Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16072Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15947Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23371	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TGCCTCTGGCCGTCCTGGTGG	0.463																																						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.(67330-67332)CGG>CAG		titin isoform N2-A							122.0	126.0	125.0					2																	179435824		1981	4154	6135	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435824C>T	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.70112G>A	2.37:g.179435824C>T	ENSP00000465570:p.Arg23371Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16139Q|TTN_uc010zfi.1_Missense_Mutation_p.R16072Q|TTN_uc010zfj.1_Missense_Mutation_p.R15947Q	p.R22444Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67555	-			23371					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.67331G>A		.	.	.	.	.	.	.	.	.	.	C	11.96	1.793881	0.31777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.28	3.47	0.39725	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42154	0.1190	N	0.25789	0.76	0.32909	D	0.514258	D;D;D;P	0.53151	0.958;0.958;0.958;0.924	B;B;B;B	0.43809	0.432;0.432;0.432;0.413	T	0.56123	-0.8031	9	0.87932	D	0	.	11.4879	0.50365	0.0:0.8059:0.1253:0.0688	.	15947;16072;16139;23371	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	22444;15947;16139;16072;15945	ENSP00000343764:R22444Q;ENSP00000434586:R15947Q;ENSP00000340554:R16139Q;ENSP00000352154:R16072Q	ENSP00000340554:R16139Q	R	-	2	0	TTN	179144070	0.997000	0.39634	0.487000	0.27428	0.929000	0.56500	1.525000	0.35953	0.708000	0.31955	-0.143000	0.13931	CGG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	256	0	0	0	0	41	256				
CXCR2	3579	broad.mit.edu	37	2	219000234	219000234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:219000234C>T	ENST00000318507.2	+	3	1137	c.710C>T	c.(709-711)aCg>aTg	p.T237M		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	237					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACCCTGCGTACGCTGTTTAAG	0.577																																						uc002vgz.1		NA																	0				lung(1)|breast(1)	2						c.(709-711)ACG>ATG		interleukin 8 receptor beta							200.0	188.0	192.0					2																	219000234		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000234C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.710C>T	2.37:g.219000234C>T	ENSP00000319635:p.Thr237Met					CXCR2_uc002vha.1_Missense_Mutation_p.T237M|CXCR2_uc002vhb.1_Missense_Mutation_p.T237M	p.T237M	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	935	+			237			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.710C>T	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002706	0.35320	.	.	ENSG00000180871	ENST00000318507	T	0.40476	1.03	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.232421	0.42548	D	0.000684	T	0.57051	0.2027	M	0.90309	3.105	0.09310	N	0.999999	D	0.62365	0.991	P	0.54372	0.75	T	0.61608	-0.7028	9	.	.	.	.	3.9196	0.09237	0.1677:0.5833:0.1618:0.0873	.	237	P25025	CXCR2_HUMAN	M	237	ENSP00000319635:T237M	.	T	+	2	0	CXCR2	218708479	0.457000	0.25752	0.958000	0.39756	0.146000	0.21551	2.326000	0.43849	2.533000	0.85409	0.462000	0.41574	ACG		0.577	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		54	312	0	0	0	0	54	312				
ANKZF1	55139	broad.mit.edu	37	2	220098637	220098637	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr2:220098637C>T	ENST00000323348.5	+	8	1194	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	ANKZF1_ENST00000409849.1_Silent_p.L130L|ANKZF1_ENST00000410034.3_Silent_p.L340L|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	340						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTGTGCTCCATAAGCTGA	0.557																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(1018-1020)CTC>CTT		ankyrin repeat and zinc finger domain containing							38.0	40.0	39.0					2																	220098637		2012	4182	6194	SO:0001819	synonymous_variant	55139					intracellular	zinc ion binding	g.chr2:220098637C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1020C>T	2.37:g.220098637C>T						ANKZF1_uc010zkv.1_Silent_p.L284L|ANKZF1_uc010zkw.1_Silent_p.L130L|ANKZF1_uc002vkh.2_Silent_p.L130L|ANKZF1_uc002vki.2_Silent_p.L340L|ANKZF1_uc002vkj.1_Silent_p.L328L	p.L340L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1194	+		Renal(207;0.0474)	340					Q9NVZ4	Silent	SNP	ENST00000323348.5	37	c.1020C>T	CCDS42821.1																																																																																				0.557	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		12	61	0	0	0	0	12	61				
PTPRT	11122	broad.mit.edu	37	20	40713412	40713412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:40713412G>A	ENST00000373187.1	-	29	4045	c.4046C>T	c.(4045-4047)tCc>tTc	p.S1349F	PTPRT_ENST00000373201.1_Missense_Mutation_p.S1339F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1352F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S1359F|PTPRT_ENST00000373198.4_Missense_Mutation_p.S1368F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1348F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S1358F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1349	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGCGCTTGGAGGGGGGCGT	0.587																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(4045-4047)TCC>TTC		protein tyrosine phosphatase, receptor type, T							58.0	63.0	62.0					20																	40713412		2019	4168	6187	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713412G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4046C>T	20.37:g.40713412G>A	ENSP00000362283:p.Ser1349Phe					PTPRT_uc010ggj.2_Missense_Mutation_p.S1368F|PTPRT_uc010ggi.2_Missense_Mutation_p.S552F	p.S1349F	NM_007050	NP_008981	O14522	PTPRT_HUMAN			29	4230	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1349			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4046C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179145	0.78564	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.119994	0.64402	D	0.000018	T	0.38639	0.1048	M	0.93939	3.475	0.80722	D	1	B;B	0.14805	0.011;0.006	B;B	0.25614	0.037;0.062	T	0.46317	-0.9200	10	0.87932	D	0	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1371;1349	O14522-1;O14522	.;PTPRT_HUMAN	F	1348;1349;1352;1358;1371;1359;1339	ENSP00000362286:S1348F;ENSP00000362283:S1349F;ENSP00000362289:S1352F;ENSP00000348408:S1358F;ENSP00000362294:S1371F;ENSP00000362280:S1359F;ENSP00000362297:S1339F	ENSP00000348408:S1358F	S	-	2	0	PTPRT	40146826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.584000	0.98220	2.894000	0.99253	0.655000	0.94253	TCC		0.587	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			11	37	0	0	0	0	11	37				
CEBPB	1051	broad.mit.edu	37	20	48807602	48807602	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:48807602G>C	ENST00000303004.3	+	1	227	c.32G>C	c.(31-33)tGt>tCt	p.C11S		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	11	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GACCCAGCATGTCTCCCCCTG	0.721																																						uc002xvi.1		NA																	0					0						c.(31-33)TGT>TCT		CCAAT/enhancer binding protein beta							6.0	7.0	7.0					20																	48807602		1812	3614	5426	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807602G>C	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.32G>C	20.37:g.48807602G>C	ENSP00000305422:p.Cys11Ser					CEBPB_uc002xvh.2_RNA	p.C11S	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	227	+			11			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.32G>C	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806663	0.70682	.	.	ENSG00000172216	ENST00000303004	T	0.36340	1.26	3.23	3.23	0.37069	.	0.350509	0.19837	U	0.104959	T	0.46560	0.1399	L	0.29908	0.895	0.41831	D	0.990073	P	0.51653	0.947	D	0.67231	0.95	T	0.52268	-0.8598	10	0.66056	D	0.02	-6.2911	14.6086	0.68498	0.0:0.0:1.0:0.0	.	11	P17676	CEBPB_HUMAN	S	11	ENSP00000305422:C11S	ENSP00000305422:C11S	C	+	2	0	CEBPB	48241009	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.372000	0.44257	1.659000	0.50751	0.491000	0.48974	TGT		0.721	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		4	8	0	0	0	0	4	8				
CDH26	60437	broad.mit.edu	37	20	58587740	58587740	+	Intron	SNP	G	G	A	rs141182679		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr20:58587740G>A	ENST00000244047.5	+	15	2483				CDH26_ENST00000244049.3_Silent_p.A110A|CDH26_ENST00000350849.6_Silent_p.A151A|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.A818A			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCAAAAGCGACTCCGTTTG	0.458																																						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2452-2454)GCG>GCA		cadherin-like 26 isoform a		G	,	2,4404	4.2+/-10.8	0,2,2201	88.0	89.0	88.0		453,2454	-6.7	0.0	20	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH26	NM_021810.4,NM_177980.2	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	151/166,818/833	58587740	3,13003	2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587740G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5898G>A	20.37:g.58587740G>A						CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Silent_p.A309A|CDH26_uc002ybh.2_Silent_p.A151A|CDH26_uc002ybi.2_Silent_p.A110A	p.A818A	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2754	+	all_lung(29;0.00963)		Error:Variant_position_missing_in_Q8IXH8_after_alignment					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.2454G>A																																																																																					0.458	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		36	110	0	0	0	0	36	110				
KRTAP10-10	353333	broad.mit.edu	37	21	46057890	46057890	+	Missense_Mutation	SNP	C	C	T	rs199609167	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr21:46057890C>T	ENST00000380095.1	+	1	618	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	186	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCAGACCCTCCTCCTC	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		20380	0.0		0.0	False		,,,				2504	0.002					uc002zfq.2		NA																	0					0						c.(556-558)CCC>TCC		keratin associated protein 10-10							135.0	131.0	133.0					21																	46057890		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057890C>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.556C>T	21.37:g.46057890C>T	ENSP00000369438:p.Pro186Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P186S	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	618	+			186			15 X 5 AA repeats of C-C-X(3).|13.			Missense_Mutation	SNP	ENST00000380095.1	37	c.556C>T	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563701	0.27915	.	.	ENSG00000221859	ENST00000380095	T	0.04119	3.7	2.84	2.84	0.33178	.	.	.	.	.	T	0.16557	0.0398	L	0.58510	1.815	0.25119	N	0.990657	D	0.89917	1.0	D	0.97110	1.0	T	0.02431	-1.1160	9	0.56958	D	0.05	.	11.9284	0.52833	0.0:1.0:0.0:0.0	.	186	P60014	KR10A_HUMAN	S	186	ENSP00000369438:P186S	ENSP00000369438:P186S	P	+	1	0	KRTAP10-10	44882318	0.407000	0.25352	0.890000	0.34922	0.116000	0.19942	1.576000	0.36504	1.540000	0.49301	0.461000	0.40582	CCC		0.652	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		40	162	0	0	0	0	40	162				
UBE2L3	7332	broad.mit.edu	37	22	21975875	21975875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr22:21975875G>A	ENST00000342192.4	+	4	580	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	UBE2L3_ENST00000458578.2_Missense_Mutation_p.E186K|UBE2L3_ENST00000545681.1_Missense_Mutation_p.E96K	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	128					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					CCTAGCTGAAGAATACTCTAA	0.488																																						uc002zva.1		NA																	0					0						c.(382-384)GAA>AAA		ubiquitin-conjugating enzyme E2L 3							28.0	29.0	29.0					22																	21975875		2203	4300	6503	SO:0001583	missense	7332				cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr22:21975875G>A	AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.382G>A	22.37:g.21975875G>A	ENSP00000344259:p.Glu128Lys					UBE2L3_uc011aig.1_Missense_Mutation_p.E96K|UBE2L3_uc002zuz.1_3'UTR|UBE2L3_uc010gti.1_RNA	p.E128K	NM_003347	NP_003338	P68036	UB2L3_HUMAN			4	459	+	Colorectal(54;0.105)		128					B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	37	c.382G>A	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228266	0.95173	.	.	ENSG00000185651	ENST00000458578;ENST00000342192;ENST00000545681	T;T;T	0.72167	-0.63;-0.63;1.19	5.48	5.48	0.80851	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.91300	3.195	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.65010	0.921;0.931	D	0.88367	0.2992	10	0.51188	T	0.08	.	16.8386	0.85962	0.0:0.0:1.0:0.0	.	96;128	B4DDG1;P68036	.;UB2L3_HUMAN	K	186;128;96	ENSP00000400906:E186K;ENSP00000344259:E128K;ENSP00000445931:E96K	ENSP00000344259:E128K	E	+	1	0	UBE2L3	20305875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.848000	0.99507	2.578000	0.87016	0.561000	0.74099	GAA		0.488	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		9	45	0	0	0	0	9	45				
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3004-3006)GAA>AAA		CAP-binding protein complex interacting protein							250.0	219.0	230.0					22																	43985982		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43985982C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3004G>A	22.37:g.43985982C>T	ENSP00000262726:p.Glu1002Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K	p.E1002K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			24	3219	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1002					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3004G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271387	0.40194	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.83335	-1.71;-1.71	4.73	3.7	0.42460	EF-hand-like domain (1);	0.249758	0.31577	N	0.007417	T	0.80166	0.4573	L	0.59436	1.845	0.09310	N	0.999999	D;P	0.61697	0.99;0.945	P;P	0.51170	0.661;0.536	T	0.69300	-0.5181	10	0.22109	T	0.4	-16.3336	4.7128	0.12880	0.1539:0.6109:0.1494:0.0857	.	850;1002	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	850;1002	ENSP00000379533:E850K;ENSP00000262726:E1002K	ENSP00000262726:E1002K	E	-	1	0	EFCAB6	42317315	0.031000	0.19500	0.053000	0.19242	0.027000	0.11550	0.602000	0.24134	2.346000	0.79739	0.555000	0.69702	GAA		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		84	99	0	0	0	0	84	99				
CNTN4	152330	broad.mit.edu	37	3	2924854	2924854	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:2924854A>T	ENST00000397461.1	+	8	1062	c.678A>T	c.(676-678)aaA>aaT	p.K226N	CNTN4_ENST00000358480.3_Missense_Mutation_p.K7N|CNTN4_ENST00000427331.1_Missense_Mutation_p.K226N|CNTN4_ENST00000418658.1_Missense_Mutation_p.K226N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	226	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGAGCCCAAAATAGAAGTGC	0.383																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(676-678)AAA>AAT		contactin 4 isoform a precursor							81.0	82.0	82.0					3																	2924854		1879	4145	6024	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2924854A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.678A>T	3.37:g.2924854A>T	ENSP00000380602:p.Lys226Asn					CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Missense_Mutation_p.K226N	p.K226N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	8	899	+		Ovarian(110;0.156)	226			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.678A>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706873	0.68615	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	4.85	2.45	0.29901	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	D	0.94473	0.7686	10	0.52906	T	0.07	.	7.9983	0.30282	0.8219:0.0:0.1781:0.0	.	226;226	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	N	226;226;226;7	ENSP00000396010:K226N;ENSP00000380602:K226N;ENSP00000413642:K226N;ENSP00000351267:K7N	ENSP00000351267:K7N	K	+	3	2	CNTN4	2899854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.779000	0.38624	0.802000	0.34089	0.533000	0.62120	AAA		0.383	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			9	40	0	0	0	0	9	40				
TTC21A	199223	broad.mit.edu	37	3	39170768	39170768	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:39170768T>G	ENST00000431162.2	+	15	2257	c.2123T>G	c.(2122-2124)cTc>cGc	p.L708R	TTC21A_ENST00000301819.6_Missense_Mutation_p.L709R|TTC21A_ENST00000440121.1_Missense_Mutation_p.L660R			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	708										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGCAGACCCTCAGAGACAGG	0.517																																						uc003cjc.2		NA																	0				ovary(1)	1						c.(2122-2124)CTC>CGC		tetratricopeptide repeat domain 21A isoform 2							120.0	122.0	121.0					3																	39170768		2099	4242	6341	SO:0001583	missense	199223						binding	g.chr3:39170768T>G	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2123T>G	3.37:g.39170768T>G	ENSP00000398211:p.Leu708Arg					TTC21A_uc003cje.2_Missense_Mutation_p.L709R|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L660R	p.L708R	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	15	2300	+			708					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.2123T>G	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	T	2.981	-0.210271	0.06140	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.56941	0.43;0.43;0.53	5.85	2.98	0.34508	Tetratricopeptide-like helical (1);	0.260977	0.29508	N	0.011941	T	0.12817	0.0311	N	0.00140	-2.01	0.25272	N	0.989504	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31888	-0.9927	10	0.09338	T	0.73	-4.0965	7.0477	0.25055	0.158:0.0:0.7016:0.1404	.	660;709;708	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	R	709;691;708;660	ENSP00000301819:L709R;ENSP00000398211:L708R;ENSP00000410882:L660R	ENSP00000301819:L709R	L	+	2	0	TTC21A	39145772	0.424000	0.25490	0.997000	0.53966	0.865000	0.49528	2.141000	0.42168	0.336000	0.23639	-0.168000	0.13345	CTC		0.517	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		24	157	0	0	0	0	24	157				
BSN	8927	broad.mit.edu	37	3	49691010	49691010	+	Missense_Mutation	SNP	C	C	T	rs142305207		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:49691010C>T	ENST00000296452.4	+	5	4135	c.4021C>T	c.(4021-4023)Cgt>Tgt	p.R1341C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1341					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCCGATGTCCGTGTCACTCA	0.612																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4021-4023)CGT>TGT		bassoon protein		C	CYS/ARG	0,4406		0,0,2203	72.0	72.0	72.0		4021	4.4	1.0	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1341/3927	49691010	1,13005	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691010C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4021C>T	3.37:g.49691010C>T	ENSP00000296452:p.Arg1341Cys						p.R1341C	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4135	+			1341					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4021C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426842	0.43020	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.25250	1.81	5.25	4.36	0.52297	.	0.059112	0.64402	D	0.000004	T	0.46964	0.1420	M	0.64997	1.995	0.58432	D	0.999994	D	0.89917	1.0	D	0.71184	0.972	T	0.49082	-0.8976	10	0.87932	D	0	.	13.8273	0.63359	0.277:0.723:0.0:0.0	.	1341	Q9UPA5	BSN_HUMAN	C	1341	ENSP00000296452:R1341C	ENSP00000296452:R1341C	R	+	1	0	BSN	49666014	0.050000	0.20438	0.989000	0.46669	0.964000	0.63967	0.496000	0.22499	1.197000	0.43143	0.462000	0.41574	CGT		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		50	90	0	0	0	0	50	90				
ITIH3	3699	broad.mit.edu	37	3	52841096	52841096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:52841096G>C	ENST00000449956.2	+	19	2242	c.2236G>C	c.(2236-2238)Gac>Cac	p.D746H	ITIH3_ENST00000416872.2_Missense_Mutation_p.D554H	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	746					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCTGGCTGGACACAGTCAC	0.552																																						uc003dfv.2		NA																	0				ovary(2)|liver(1)	3						c.(2236-2238)GAC>CAC		inter-alpha (globulin) inhibitor H3							27.0	29.0	28.0					3																	52841096		2017	4169	6186	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52841096G>C		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2236G>C	3.37:g.52841096G>C	ENSP00000415769:p.Asp746His					ITIH3_uc011bek.1_Missense_Mutation_p.D554H	p.D746H	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	19	2272	+			746					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2236G>C	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038814	0.75617	.	.	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.13089	2.62;2.62	5.09	5.09	0.68999	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.187453	0.45126	D	0.000384	T	0.43545	0.1252	M	0.87180	2.865	0.42707	D	0.993639	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.51301	-0.8723	10	0.72032	D	0.01	-37.0562	15.4294	0.75081	0.0:0.0:1.0:0.0	.	554;746	E7ET33;Q06033	.;ITIH3_HUMAN	H	741;554;746	ENSP00000413922:D554H;ENSP00000415769:D746H	ENSP00000273291:D741H	D	+	1	0	ITIH3	52816136	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	4.427000	0.59888	2.374000	0.81015	0.555000	0.69702	GAC		0.552	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		3	12	0	0	0	0	3	12				
CD200R1L	344807	broad.mit.edu	37	3	112548233	112548233	+	Splice_Site	SNP	T	T	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:112548233T>C	ENST00000398214.1	-	2	272		c.e2-2		CD200R1L_ENST00000488794.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TACTTGAAGCTAGAAAACATT	0.373																																						uc003dzi.1		NA																	0				ovary(1)	1						c.e2-1		CD200 cell surface glycoprotein receptor 2							120.0	111.0	114.0					3																	112548233		2019	4240	6259	SO:0001630	splice_region_variant	344807					integral to membrane	receptor activity	g.chr3:112548233T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.47-2A>G	3.37:g.112548233T>C						CD200R1L_uc011bhw.1_Splice_Site|CD200R1L_uc010hqf.1_Splice_Site	p.A16_splice	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			2	273	-								Q6WHB7	Splice_Site	SNP	ENST00000398214.1	37	c.47_splice	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.488921	0.26686	.	.	ENSG00000206531	ENST00000398214	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1023	0.25344	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD200R1L	114030923	0.942000	0.31987	0.632000	0.29296	0.169000	0.22640	1.788000	0.38714	1.443000	0.47586	0.379000	0.24179	.		0.373	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	Intron	31	75	0	0	0	0	31	75				
KALRN	8997	broad.mit.edu	37	3	124418822	124418822	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:124418822C>A	ENST00000291478.5	+	23	3010	c.2847C>A	c.(2845-2847)aaC>aaA	p.N949K	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Missense_Mutation_p.N917K|KALRN_ENST00000360013.3_Missense_Mutation_p.N2646K	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2645					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGCCAGTAACCCCTGGGGAA	0.582																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7936-7938)AAC>AAA		kalirin, RhoGEF kinase isoform 1							183.0	163.0	170.0					3																	124418822		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418822C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2847C>A	3.37:g.124418822C>A	ENSP00000291478:p.Asn949Lys					KALRN_uc003ehk.2_Missense_Mutation_p.N949K	p.N2646K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			56	8065	+			2645			Fibronectin type-III.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.7938C>A	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.277499|4.277499	0.80580|0.80580	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	6.02|6.02	3.29|3.29	0.37713|0.37713	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78735|0.78735	0.4330|0.4330	M|M	0.90650|0.90650	3.135|3.135	0.38231|0.38231	D|D	0.941048|0.941048	D;D|.	0.69078|.	0.997;0.991|.	D;D|.	0.81914|.	0.995;0.988|.	T|T	0.82220|0.82220	-0.0565|-0.0565	10|5	0.87932|.	D|.	0|.	.|.	12.0733|12.0733	0.53628|0.53628	0.0:0.82:0.0:0.18|0.0:0.82:0.0:0.18	.|.	949;2645|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	K|N	2646;949;917|2615	ENSP00000353109:N2646K;ENSP00000291478:N949K;ENSP00000402419:N917K|.	ENSP00000291478:N949K|.	N|T	+|+	3|2	2|0	KALRN|KALRN	125901512|125901512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.005000|1.005000	0.29834|0.29834	0.442000|0.442000	0.26555|0.26555	-0.136000|-0.136000	0.14681|0.14681	AAC|ACC		0.582	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		73	238	1	0	1.52e-38	1.81e-38	73	238				
EIF2A	83939	broad.mit.edu	37	3	150289839	150289839	+	Silent	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:150289839C>T	ENST00000460851.1	+	10	1015	c.906C>T	c.(904-906)ttC>ttT	p.F302F	EIF2A_ENST00000406576.3_Silent_p.F241F|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000383043.3_Silent_p.F88F|EIF2A_ENST00000273435.5_Silent_p.F297F|EIF2A_ENST00000487799.1_Silent_p.F277F|SERP1_ENST00000490945.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	302					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGACAATTTTCAACTTGAAAT	0.378																																						uc003eya.2		NA																	0					0						c.(904-906)TTC>TTT		eukaryotic translation initiation factor 2A							96.0	90.0	92.0					3																	150289839		1846	4102	5948	SO:0001819	synonymous_variant	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150289839C>T	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.906C>T	3.37:g.150289839C>T						SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.F175F|EIF2A_uc003eyc.2_Silent_p.F175F|EIF2A_uc011bnv.1_Silent_p.F277F|EIF2A_uc011bnw.1_Silent_p.F241F|EIF2A_uc003eyd.2_Silent_p.F77F|uc003eye.1_Intron	p.F302F	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	922	+		Melanoma(1037;0.0575)	302					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	c.906C>T	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999073	0.19121	.	.	ENSG00000144895	ENST00000465535	.	.	.	6.07	5.2	0.72013	.	.	.	.	.	T	0.60805	0.2297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59526	-0.7438	4	.	.	.	-16.918	9.7448	0.40440	0.0:0.7807:0.0:0.2193	.	.	.	.	L	76	.	.	S	+	2	0	EIF2A	151772529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.087000	0.50167	1.550000	0.49438	0.655000	0.94253	TCA		0.378	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		12	68	0	0	0	0	12	68				
DRD5	1816	broad.mit.edu	37	4	9783799	9783799	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr4:9783799T>A	ENST00000304374.2	+	1	542	c.146T>A	c.(145-147)cTa>cAa	p.L49Q		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	49					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)			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)	CTGCTGACCCTACTCATCATC	0.677																																						uc003gmb.3		NA																	0				skin(1)	1						c.(145-147)CTA>CAA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						22.0	19.0	20.0					4																	9783799		2202	4298	6500	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.chr4:9783799T>A	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.146T>A	4.37:g.9783799T>A	ENSP00000306129:p.Leu49Gln						p.L49Q	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	542	+			49			Helical; Name=1; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.146T>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	16.81	3.225420	0.58668	.	.	ENSG00000169676	ENST00000304374	T	0.44083	0.93	3.87	3.87	0.44632	.	0.000000	0.64402	D	0.000001	T	0.56485	0.1988	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.59700	-0.7405	10	0.66056	D	0.02	.	12.0202	0.53340	0.0:0.0:0.0:1.0	.	49	P21918	DRD5_HUMAN	Q	49	ENSP00000306129:L49Q	ENSP00000306129:L49Q	L	+	2	0	DRD5	9392897	1.000000	0.71417	0.991000	0.47740	0.545000	0.35147	4.633000	0.61318	1.614000	0.50241	0.254000	0.18369	CTA		0.677	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	23	0	0	0	0	7	23				
MUC7	4589	broad.mit.edu	37	4	71346528	71346528	+	Nonsense_Mutation	SNP	C	C	T	rs546576850		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr4:71346528C>T	ENST00000304887.5	+	3	257	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.R23*|MUC7_ENST00000413702.1_Nonsense_Mutation_p.R23*	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	23					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAGTGAAGGTCGAGAAAGGGA	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21609	0.0		0.0	False		,,,				2504	0.0					uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(67-69)CGA>TGA		mucin 7, secreted precursor							117.0	116.0	116.0					4																	71346528		2203	4300	6503	SO:0001587	stop_gained	4589					extracellular region	protein binding	g.chr4:71346528C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.67C>T	4.37:g.71346528C>T	ENSP00000302021:p.Arg23*					MUC7_uc011cau.1_Nonsense_Mutation_p.R23*|MUC7_uc003hfj.2_Nonsense_Mutation_p.R23*	p.R23*	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	355	+			23					Q9UCD7|Q9UCD8	Nonsense_Mutation	SNP	ENST00000304887.5	37	c.67C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414742	0.62511	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	.	.	.	3.85	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0037	5.1951	0.15232	0.0:0.6125:0.2637:0.1238	.	.	.	.	X	23	.	ENSP00000302021:R23X	R	+	1	2	MUC7	71381117	0.258000	0.24033	0.685000	0.30070	0.266000	0.26442	0.268000	0.18571	0.588000	0.29660	0.655000	0.94253	CGA		0.403	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		20	162	0	0	0	0	20	162				
BTF3	689	broad.mit.edu	37	5	72798376	72798376	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:72798376C>G	ENST00000335895.8	+	3	284	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	BTF3_ENST00000380591.3_Missense_Mutation_p.Q89E|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAAAAAACTTCAGTTCTCCTT	0.383																																						uc003kcr.1		NA																	0					0						c.(265-267)CAG>GAG		basic transcription factor 3 isoform A							52.0	52.0	52.0					5																	72798376		2203	4300	6503	SO:0001583	missense	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72798376C>G	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.133C>G	5.37:g.72798376C>G	ENSP00000338516:p.Gln45Glu					BTF3_uc003kcq.1_Missense_Mutation_p.Q45E|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	p.Q89E	NM_001037637	NP_001032726	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	3	508	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	89	Missing (in Ref. 2; AAA58398).		NAC-A/B.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000335895.8	37	c.265C>G	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990505	0.74589	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	Nascent polypeptide-associated complex NAC (2);	0.000000	0.85682	U	0.000000	D	0.82893	0.5136	H	0.96048	3.76	0.80722	D	1	B	0.19935	0.04	B	0.26969	0.075	T	0.82981	-0.0187	9	0.72032	D	0.01	-3.1696	19.8764	0.96873	0.0:1.0:0.0:0.0	.	89	P20290	BTF3_HUMAN	E	45;89	.	ENSP00000338516:Q45E	Q	+	1	0	BTF3	72834132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.768000	0.95171	0.655000	0.94253	CAG		0.383	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	NM_001207		6	35	0	0	0	0	6	35				
FAM172A	83989	broad.mit.edu	37	5	93300198	93300198	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:93300198C>G	ENST00000395965.3	-	5	482	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	FAM172A_ENST00000509163.1_Missense_Mutation_p.E68Q|FAM172A_ENST00000505869.1_Missense_Mutation_p.E68Q|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_Missense_Mutation_p.E31Q	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	114						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAATCCTTTTCCAGGAGCTCA	0.264																																						uc010jbd.2		NA																	0					0						c.(340-342)GAA>CAA		hypothetical protein LOC83989 isoform 1							31.0	31.0	31.0					5																	93300198		2188	4274	6462	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93300198C>G		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.340G>C	5.37:g.93300198C>G	ENSP00000379294:p.Glu114Gln					FAM172A_uc011cuf.1_Missense_Mutation_p.E68Q|FAM172A_uc011cug.1_Missense_Mutation_p.E68Q|FAM172A_uc011cuh.1_Missense_Mutation_p.E31Q|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.E114Q	p.E114Q	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			5	547	-			114					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.340G>C	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541800	0.85917	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T	0.45668	0.89;0.89;0.89	5.72	5.72	0.89469	Arb2 domain (1);	0.047432	0.85682	D	0.000000	T	0.52273	0.1724	M	0.78456	2.415	0.58432	D	0.999996	B;B;B;P	0.51537	0.06;0.06;0.075;0.946	B;B;B;P	0.46253	0.032;0.082;0.062;0.509	T	0.55276	-0.8166	10	0.41790	T	0.15	-22.2267	16.8278	0.85936	0.0:0.8718:0.1282:0.0	.	31;68;114;114	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	Q	114;68;31;68	ENSP00000379294:E114Q;ENSP00000426284:E68Q;ENSP00000423841:E68Q	ENSP00000379294:E114Q	E	-	1	0	FAM172A	93325954	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.173000	0.58249	2.689000	0.91719	0.591000	0.81541	GAA		0.264	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		3	19	0	0	0	0	3	19				
KCNN2	3781	broad.mit.edu	37	5	113798815	113798815	+	Silent	SNP	C	C	G	rs555115644		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr5:113798815C>G	ENST00000512097.3	+	5	2089	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.L9L|KCNN2_ENST00000264773.3_Silent_p.L357L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	357					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TAACTTTTCTCTCCATTGGTT	0.383																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(1069-1071)CTC>CTG		small conductance calcium-activated potassium							298.0	261.0	274.0					5																	113798815		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113798815C>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1071C>G	5.37:g.113798815C>G						KCNN2_uc003kqp.2_Silent_p.L9L|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron	p.L357L	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1528	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	357					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1071C>G	CCDS4114.1																																																																																				0.383	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		30	247	0	0	0	0	30	247				
MICB	4277	broad.mit.edu	37	6	31477569	31477569	+	Silent	SNP	C	C	T	rs575841894	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:31477569C>T	ENST00000252229.6	+	6	1114	c.1035C>T	c.(1033-1035)agC>agT	p.S345S	MICB_ENST00000399150.3_Silent_p.S302S|MICB_ENST00000538442.1_Silent_p.S313S	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						AGCTTGTGAGCCTGCAGGTCC	0.522													c|||	3	0.000599042	0.0	0.0	5008	,	,		19058	0.0		0.0	False		,,,				2504	0.0031					uc003ntn.3		NA																	0					0						c.(1033-1035)AGC>AGT		MHC class I polypeptide-related sequence B							124.0	121.0	122.0					6																	31477569		1250	2580	3830	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31477569C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1035C>T	6.37:g.31477569C>T						MICB_uc011dnm.1_Silent_p.S313S|MICB_uc003nto.3_Silent_p.S302S	p.S345S	NM_005931	NP_005922	Q29980	MICB_HUMAN			6	1151	+			345			Cytoplasmic (Potential).			Silent	SNP	ENST00000252229.6	37	c.1035C>T	CCDS43449.1																																																																																				0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		32	166	0	0	0	0	32	166				
ZFAND3	60685	broad.mit.edu	37	6	38084398	38084398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:38084398G>A	ENST00000287218.4	+	5	859	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E116K	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	138							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						ACGACTACTTGAGAATACGGA	0.498																																						uc003onx.2		NA																	0				ovary(1)	1						c.(412-414)GAG>AAG		zinc finger, AN1-type domain 3							135.0	114.0	121.0					6																	38084398		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38084398G>A	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.412G>A	6.37:g.38084398G>A	ENSP00000287218:p.Glu138Lys						p.E138K	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			5	827	+			138					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.412G>A	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676271	0.88445	.	.	ENSG00000156639	ENST00000287218;ENST00000373391;ENST00000474522	T	0.54675	0.56	5.28	5.28	0.74379	.	0.364802	0.32655	N	0.005819	T	0.19765	0.0475	N	0.08118	0	0.58432	D	0.999998	B	0.23735	0.09	B	0.21708	0.036	T	0.10520	-1.0626	10	0.15499	T	0.54	-2.8383	19.2682	0.93998	0.0:0.0:1.0:0.0	.	138	Q9H8U3	ZFAN3_HUMAN	K	138;116;169	ENSP00000420240:E169K	ENSP00000287218:E138K	E	+	1	0	ZFAND3	38192376	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.784000	0.91818	2.615000	0.88500	0.650000	0.86243	GAG		0.498	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		18	116	0	0	0	0	18	116				
DEFB113	245927	broad.mit.edu	37	6	49937338	49937338	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:49937338T>C	ENST00000398718.1	-	1	0	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	1					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					AGTATCTTCATTGCTGATGCA	0.343																																						uc011dwq.1		NA																	0					0						c.(1-3)ATG>GTG		beta-defensin 113 precursor							94.0	94.0	94.0					6																	49937338		1861	4089	5950	SO:0001582	initiator_codon_variant	245927				defense response to bacterium	extracellular region		g.chr6:49937338T>C	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.1A>G	6.37:g.49937338T>C	ENSP00000381703:p.Met1Val						p.M1V	NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN			1	1	-	Lung NSC(77;0.042)		1						Missense_Mutation	SNP	ENST00000398718.1	37	c.1A>G	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	T	7.633	0.679215	0.14907	.	.	ENSG00000214642	ENST00000398718	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	T	0.62889	0.2465	.	.	.	.	.	.	D	0.63880	0.993	D	0.70935	0.971	T	0.66412	-0.5930	5	.	.	.	-18.4666	9.5878	0.39528	0.0:0.0:0.0:1.0	.	1	Q30KQ7	DB113_HUMAN	V	1	.	.	M	-	1	0	DEFB113	50045297	0.977000	0.34250	0.992000	0.48379	0.139000	0.21198	0.511000	0.22739	1.834000	0.53371	0.482000	0.46254	ATG		0.343	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		Missense_Mutation	16	89	0	0	0	0	16	89				
KLHL31	401265	broad.mit.edu	37	6	53519101	53519101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:53519101G>A	ENST00000407079.1	-	1	969	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	KLHL31_ENST00000370905.3_Missense_Mutation_p.R324C			Q9H511	KLH31_HUMAN	kelch-like family member 31	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AGGCCTGGGCGTCCCCCAACA	0.478																																						uc003pcb.3		NA																	0				ovary(1)	1						c.(970-972)CGC>TGC		kelch repeat and BTB (POZ) domain containing 1							111.0	104.0	107.0					6																	53519101		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519101G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.970C>T	6.37:g.53519101G>A	ENSP00000384644:p.Arg324Cys						p.R324C	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			2	1111	-	Lung NSC(77;0.0158)		324			Kelch 1.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.970C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792151	0.70452	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.66460	-0.21;-0.21	5.49	5.49	0.81192	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.75481	0.3855	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76022	-0.3111	10	0.56958	D	0.05	.	19.4094	0.94662	0.0:0.0:1.0:0.0	.	324	Q9H511	KLH31_HUMAN	C	324	ENSP00000359942:R324C;ENSP00000384644:R324C	ENSP00000359942:R324C	R	-	1	0	KLHL31	53627060	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	9.869000	0.99810	2.583000	0.87209	0.561000	0.74099	CGC		0.478	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		54	116	0	0	0	0	54	116				
DST	667	broad.mit.edu	37	6	56426989	56426989	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:56426989A>G	ENST00000361203.3	-	52	13389	c.13382T>C	c.(13381-13383)gTa>gCa	p.V4461A	DST_ENST00000370769.4_Missense_Mutation_p.V4463A|DST_ENST00000370754.5_Missense_Mutation_p.V4641A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V2375A|DST_ENST00000421834.2_Missense_Mutation_p.V2375A|DST_ENST00000244364.6_Missense_Mutation_p.V2049A|DST_ENST00000446842.2_Missense_Mutation_p.V4137A			Q03001	DYST_HUMAN	dystonin	4461					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATTTAATACTGCTCCACC	0.303																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(7657-7659)GTA>GCA		dystonin isoform 2							56.0	49.0	51.0					6																	56426989		1816	4050	5866	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426989A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13382T>C	6.37:g.56426989A>G	ENSP00000354508:p.Val4461Ala					DST_uc003pcz.3_Missense_Mutation_p.V2375A|DST_uc011dxj.1_Missense_Mutation_p.V2404A|DST_uc011dxk.1_Missense_Mutation_p.V2415A|DST_uc003pcy.3_Missense_Mutation_p.V2049A	p.V2553A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		50	7686	-	Lung NSC(77;0.103)		4461					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.7658T>C		.	.	.	.	.	.	.	.	.	.	A	11.77	1.738457	0.30774	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65916	1.04;-0.12;-0.13;-0.0;0.82;-0.05;-0.18	5.92	4.76	0.60689	.	0.624679	0.14982	N	0.287202	T	0.31071	0.0785	L	0.46157	1.445	0.21762	N	0.999552	B;B;B;B;B	0.34181	0.189;0.136;0.44;0.0;0.0	B;B;B;B;B	0.34038	0.024;0.08;0.174;0.001;0.003	T	0.07770	-1.0755	9	0.07813	T	0.8	.	10.5229	0.44929	0.927:0.0:0.073:0.0	.	2375;4463;4641;4461;2049	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	A	2049;4641;4463;2375;4137;2375;4461	ENSP00000244364:V2049A;ENSP00000359790:V4641A;ENSP00000359805:V4463A;ENSP00000400883:V2375A;ENSP00000393645:V4137A;ENSP00000359824:V2375A;ENSP00000354508:V4461A	ENSP00000244364:V2049A	V	-	2	0	DST	56534948	0.896000	0.30565	0.977000	0.42913	0.940000	0.58332	4.155000	0.58131	1.062000	0.40625	0.477000	0.44152	GTA		0.303	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		2	5	0	0	0	0	2	5				
OSTM1	28962	broad.mit.edu	37	6	108395463	108395463	+	Silent	SNP	T	T	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:108395463T>A	ENST00000193322.3	-	1	478	c.393A>T	c.(391-393)cgA>cgT	p.R131R		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	131					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CCCCCGCGGCTCGGCTGATGT	0.637																																					Melanoma(162;1427 1909 3096 17430 21396)	uc003psd.2		NA																	0				central_nervous_system(1)	1						c.(391-393)CGA>CGT		osteopetrosis associated transmembrane protein 1							21.0	24.0	23.0					6																	108395463		2193	4281	6474	SO:0001819	synonymous_variant	28962					integral to membrane		g.chr6:108395463T>A	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.393A>T	6.37:g.108395463T>A							p.R131R	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	1	479	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	131			Extracellular (Potential).		E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Silent	SNP	ENST00000193322.3	37	c.393A>T	CCDS5062.1																																																																																				0.637	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		8	23	0	0	0	0	8	23				
MICAL1	64780	broad.mit.edu	37	6	109774946	109774946	+	Missense_Mutation	SNP	G	G	A	rs540868259		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:109774946G>A	ENST00000358807.3	-	3	672	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	MICAL1_ENST00000368952.4_Missense_Mutation_p.R140C|MICAL1_ENST00000358577.3_Missense_Mutation_p.R121C|MICAL1_ENST00000483856.1_5'Flank	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	121	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACGTTGTGGCGAGAGAACTTG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17493	0.0		0.0	False		,,,				2504	0.001					uc003ptj.2		NA																	0				breast(2)|ovary(1)	3						c.(361-363)CGC>TGC		microtubule associated monoxygenase, calponin							81.0	61.0	68.0					6																	109774946		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109774946G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.361C>T	6.37:g.109774946G>A	ENSP00000351664:p.Arg121Cys					MICAL1_uc003ptk.2_Missense_Mutation_p.R121C|MICAL1_uc010kdr.2_Missense_Mutation_p.R121C|MICAL1_uc011eaq.1_Missense_Mutation_p.R140C	p.R121C	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	2	615	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	121					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.361C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052614	0.75960	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.41	4.51	0.55191	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.54938	-0.8218	10	0.87932	D	0	.	12.8751	0.57986	0.0:0.0:0.8306:0.1694	.	140;121;121	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	C	121;140;121;121	ENSP00000351664:R121C;ENSP00000357948:R140C;ENSP00000351385:R121C;ENSP00000407075:R121C	ENSP00000351385:R121C	R	-	1	0	MICAL1	109881639	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.329000	0.52060	1.456000	0.47831	0.561000	0.74099	CGC		0.662	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		10	51	0	0	0	0	10	51				
LAMA2	3908	broad.mit.edu	37	6	129468119	129468119	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:129468119A>G	ENST00000421865.2	+	6	884	c.835A>G	c.(835-837)Aag>Gag	p.K279E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	279	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTACTCGGTCAAGGATATTTC	0.403																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(835-837)AAG>GAG		laminin alpha 2 subunit isoform a precursor							213.0	195.0	201.0					6																	129468119		2203	4299	6502	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129468119A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.835A>G	6.37:g.129468119A>G	ENSP00000400365:p.Lys279Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.K279E	p.K279E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	6	940	+			279			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.835A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778740	0.90195	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75938	-0.98	5.76	5.76	0.90799	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.992;0.996	D	0.90362	0.4374	10	0.87932	D	0	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	279;279	A6NF00;P24043	.;LAMA2_HUMAN	E	279	ENSP00000400365:K279E	ENSP00000346769:K279E	K	+	1	0	LAMA2	129509812	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.229000	0.95273	2.323000	0.78572	0.528000	0.53228	AAG		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			31	227	0	0	0	0	31	227				
LAMA2	3908	broad.mit.edu	37	6	129774131	129774131	+	Splice_Site	SNP	A	A	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:129774131A>C	ENST00000421865.2	+	46	6478		c.e46-1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTTTTTTAAAGATCAAAGTA	0.343																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.e45-2		laminin alpha 2 subunit isoform a precursor							74.0	73.0	73.0					6																	129774131		2203	4299	6502	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129774131A>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6430-1A>C	6.37:g.129774131A>C						LAMA2_uc003qbo.2_Splice_Site_p.I2144_splice	p.I2144_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	45	6535	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	c.6430_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937294	0.73557	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.195	0.73081	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129815824	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	8.962000	0.93254	2.054000	0.61138	0.533000	0.62120	.		0.343	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	13	65	0	0	0	0	13	65				
RAB32	10981	broad.mit.edu	37	6	146865133	146865133	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr6:146865133C>G	ENST00000367495.3	+	1	305	c.126C>G	c.(124-126)atC>atG	p.I42M		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	42					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		CCAGCATCATCAAGCGCTACG	0.677																																						uc003qln.1		NA																	0					0						c.(124-126)ATC>ATG		RAB32, member RAS oncogene family							67.0	57.0	60.0					6																	146865133		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865133C>G	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.126C>G	6.37:g.146865133C>G	ENSP00000356465:p.Ile42Met						p.I42M	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	306	+		Ovarian(120;0.142)	42						Missense_Mutation	SNP	ENST00000367495.3	37	c.126C>G	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793552	0.90453	.	.	ENSG00000118508	ENST00000367495	T	0.77620	-1.11	4.7	3.83	0.44106	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78981	-0.1989	10	0.37606	T	0.19	-18.2428	12.7949	0.57555	0.0:0.9199:0.0:0.0801	.	42	Q13637	RAB32_HUMAN	M	42	ENSP00000356465:I42M	ENSP00000356465:I42M	I	+	3	3	RAB32	146906826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.993000	0.49425	0.969000	0.38237	0.650000	0.86243	ATC		0.677	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		13	36	0	0	0	0	13	36				
DGKB	1607	broad.mit.edu	37	7	14622703	14622703	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:14622703G>A	ENST00000403951.2	-	18	1915	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	DGKB_ENST00000444700.2_Missense_Mutation_p.T480I|DGKB_ENST00000407950.1_Missense_Mutation_p.T491I|DGKB_ENST00000258767.5_Missense_Mutation_p.T499I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.T499I|DGKB_ENST00000406247.3_Missense_Mutation_p.T499I|DGKB_ENST00000402815.1_Missense_Mutation_p.T498I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	499	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.T499N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCAGCCCACGGTTCCATCTCC	0.398																																						uc003ssz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1495-1497)ACC>ATC		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						75.0	76.0	75.0					7																	14622703		2035	4222	6257	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14622703G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1496C>T	7.37:g.14622703G>A	ENSP00000385780:p.Thr499Ile					DGKB_uc011jxt.1_Missense_Mutation_p.T480I|DGKB_uc003sta.2_Missense_Mutation_p.T499I|DGKB_uc011jxu.1_Missense_Mutation_p.T498I	p.T499I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			17	1683	-			499			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1496C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017922	0.93404	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.44	5.44	0.79542	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.997	D;D;D;D	0.78314	0.984;0.984;0.991;0.97	D	0.90052	0.4150	10	0.87932	D	0	.	19.2574	0.93951	0.0:0.0:1.0:0.0	.	498;480;499;499	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	I	499;499;499;498;491;480;499	ENSP00000385780:T499I;ENSP00000382260:T499I;ENSP00000258767:T499I;ENSP00000384909:T498I;ENSP00000385031:T491I;ENSP00000388451:T480I;ENSP00000386066:T499I	ENSP00000258767:T499I	T	-	2	0	DGKB	14589228	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.796000	0.99103	2.545000	0.85829	0.591000	0.81541	ACC		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		8	55	0	0	0	0	8	55				
BAZ1B	9031	broad.mit.edu	37	7	72865288	72865288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:72865288G>A	ENST00000339594.4	-	14	3807	c.3469C>T	c.(3469-3471)Cgg>Tgg	p.R1157W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R1157W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1157					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAGCTTCCCGGATTGCTGTC	0.488																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(3469-3471)CGG>TGG		bromodomain adjacent to zinc finger domain, 1B							96.0	87.0	90.0					7																	72865288		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72865288G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3469C>T	7.37:g.72865288G>A	ENSP00000342434:p.Arg1157Trp						p.R1157W	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			14	3814	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1157					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3469C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734080	0.89482	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.31510	1.49;1.49	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.40534	-0.9558	10	0.72032	D	0.01	-16.9475	19.2088	0.93746	0.0:0.0:1.0:0.0	.	1157	Q9UIG0	BAZ1B_HUMAN	W	1157	ENSP00000342434:R1157W;ENSP00000385442:R1157W	ENSP00000342434:R1157W	R	-	1	2	BAZ1B	72503224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.088000	0.76901	2.790000	0.95986	0.591000	0.81541	CGG		0.488	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		31	114	0	0	0	0	31	114				
SEMA3E	9723	broad.mit.edu	37	7	83014715	83014715	+	Silent	SNP	A	A	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:83014715A>T	ENST00000307792.3	-	16	2237	c.1770T>A	c.(1768-1770)gcT>gcA	p.A590A	SEMA3E_ENST00000427262.1_Silent_p.A530A	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	590	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTATGCCATAAGCCAGATGTT	0.373																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(1768-1770)GCT>GCA		semaphorin 3E precursor							193.0	170.0	178.0					7																	83014715		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014715A>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1770T>A	7.37:g.83014715A>T							p.A590A	NM_012431	NP_036563	O15041	SEM3E_HUMAN			16	2236	-		Medulloblastoma(109;0.109)	590			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1770T>A	CCDS34674.1																																																																																				0.373	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		29	281	0	0	0	0	29	281				
PARP12	64761	broad.mit.edu	37	7	139741627	139741627	+	Silent	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr7:139741627A>G	ENST00000263549.3	-	6	1872	c.999T>C	c.(997-999)tcT>tcC	p.S333S	PARP12_ENST00000470515.1_5'Flank	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	333	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGGCTGACTCAGAGCACAGGA	0.527																																						uc003vvl.1		NA																	0				ovary(3)	3						c.(997-999)TCT>TCC		poly ADP-ribose polymerase 12							114.0	105.0	108.0					7																	139741627		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139741627A>G	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.999T>C	7.37:g.139741627A>G						PARP12_uc003vvk.1_Silent_p.S119S|PARP12_uc010lnf.1_RNA	p.S333S	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			6	1873	-	Melanoma(164;0.0142)		333			WWE 1.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.999T>C	CCDS5857.1																																																																																				0.527	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		56	111	0	0	0	0	56	111				
CSMD3	114788	broad.mit.edu	37	8	113812428	113812428	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr8:113812428T>A	ENST00000297405.5	-	13	2179	c.1935A>T	c.(1933-1935)gaA>gaT	p.E645D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E645D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E605D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	645	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCAACACTTTCGTCCGTTT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1933-1935)GAA>GAT		CUB and Sushi multiple domains 3 isoform 1							141.0	126.0	131.0					8																	113812428		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113812428T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1935A>T	8.37:g.113812428T>A	ENSP00000297405:p.Glu645Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E605D|CSMD3_uc011lhx.1_Missense_Mutation_p.E541D	p.E645D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			13	2094	-			645			Extracellular (Potential).|CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1935A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725913	0.69074	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.83	3.43	0.39272	CUB (5);	0.000000	0.64402	D	0.000001	T	0.13713	0.0332	N	0.02830	-0.485	0.28059	N	0.933042	D;D;P	0.69078	0.997;0.996;0.463	D;D;B	0.85130	0.967;0.997;0.355	T	0.16660	-1.0395	10	0.11485	T	0.65	.	7.6974	0.28602	0.1254:0.0676:0.0:0.807	.	541;645;605	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	605;645;541;645	ENSP00000345799:E605D;ENSP00000297405:E645D;ENSP00000412263:E541D;ENSP00000343124:E645D	ENSP00000297405:E645D	E	-	3	2	CSMD3	113881604	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.536000	0.45693	0.459000	0.27016	0.454000	0.30748	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	90	0	0	0	0	37	90				
KCNV2	169522	broad.mit.edu	37	9	2717793	2717793	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:2717793G>A	ENST00000382082.3	+	1	292	c.54G>A	c.(52-54)acG>acA	p.T18T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	18					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CCTGGAACACGACGGAGAATG	0.607																																						uc003zho.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(52-54)ACG>ACA		potassium channel, subfamily V, member 2							84.0	85.0	85.0					9																	2717793		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2717793G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.54G>A	9.37:g.2717793G>A							p.T18T	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	268	+			18			Cytoplasmic (Potential).		Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.54G>A	CCDS6447.1																																																																																				0.607	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		74	158	0	0	0	0	74	158				
ORM1	5004	broad.mit.edu	37	9	117087155	117087155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:117087155G>C	ENST00000259396.8	+	4	492	c.414G>C	c.(412-414)aaG>aaC	p.K138N	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	138					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	ACGATGAGAAGAACTGGGGGC	0.567																																						uc004bik.3		NA																	0					0						c.(412-414)AAG>AAC		orosomucoid 1 precursor	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						144.0	153.0	150.0					9																	117087155		2203	4300	6503	SO:0001583	missense	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117087155G>C		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.414G>C	9.37:g.117087155G>C	ENSP00000259396:p.Lys138Asn					ORM1_uc011lxo.1_Missense_Mutation_p.K138N	p.K138N	NM_000607	NP_000598	P02763	A1AG1_HUMAN			4	525	+		Myeloproliferative disorder(63;0.163)	138					B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	c.414G>C	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467918	0.26335	.	.	ENSG00000229314	ENST00000259396	T	0.08008	3.14	4.24	2.31	0.28768	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.271440	0.05305	N	0.523672	T	0.05823	0.0152	L	0.29908	0.895	0.09310	N	1	P	0.39404	0.672	B	0.29598	0.104	T	0.38478	-0.9659	10	0.30854	T	0.27	-5.2119	5.6978	0.17865	0.1072:0.0:0.7006:0.1922	.	138	P02763	A1AG1_HUMAN	N	138	ENSP00000259396:K138N	ENSP00000259396:K138N	K	+	3	2	ORM1	116126976	0.007000	0.16637	0.001000	0.08648	0.046000	0.14306	0.098000	0.15189	0.459000	0.27016	0.205000	0.17691	AAG		0.567	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			10	73	0	0	0	0	10	73				
TLR4	7099	broad.mit.edu	37	9	120470945	120470945	+	Silent	SNP	G	G	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:120470945G>A	ENST00000355622.6	+	2	299	c.198G>A	c.(196-198)ctG>ctA	p.L66L	TLR4_ENST00000394487.4_Silent_p.L26L|TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	66					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTAATCCCCTGAGGCATTTAG	0.438																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(196-198)CTG>CTA		toll-like receptor 4 precursor							153.0	156.0	155.0					9																	120470945		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470945G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.198G>A	9.37:g.120470945G>A						TLR4_uc004bka.2_Silent_p.L26L|TLR4_uc004bkb.2_Intron	p.L66L	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	489	+			66			LRR 1.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.198G>A	CCDS6818.1																																																																																				0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		29	212	0	0	0	0	29	212				
PHF19	26147	broad.mit.edu	37	9	123629194	123629194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:123629194C>T	ENST00000373896.3	-	7	916	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PHF19_ENST00000419155.1_Missense_Mutation_p.E13K|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	222					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGCAGGCCTCGTGGAACCAC	0.607																																						uc004bks.1		NA																	0				ovary(1)|breast(1)	2						c.(664-666)GAG>AAG		PHD finger protein 19 isoform a							96.0	77.0	83.0					9																	123629194		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123629194C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.664G>A	9.37:g.123629194C>T	ENSP00000363003:p.Glu222Lys					PHF19_uc011lyf.1_Missense_Mutation_p.E13K|PHF19_uc004bkr.2_RNA	p.E222K	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			7	917	-			222			PHD-type 2.		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.664G>A	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	36	5.748345	0.96882	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868;ENST00000439674	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70215	-0.4933	10	0.72032	D	0.01	-23.5059	17.8211	0.88651	0.0:1.0:0.0:0.0	.	222	Q5T6S3	PHF19_HUMAN	K	222;222;13;13;13	ENSP00000363003:E222K;ENSP00000407433:E13K;ENSP00000395938:E13K;ENSP00000404655:E13K	ENSP00000363003:E222K	E	-	1	0	PHF19	122669015	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.620000	0.83070	2.439000	0.82584	0.563000	0.77884	GAG		0.607	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		18	92	0	0	0	0	18	92				
GOLGA1	2800	broad.mit.edu	37	9	127685430	127685430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:127685430C>T	ENST00000373555.4	-	8	838	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	169					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCATCCATTTCATCTCTCCTT	0.348																																						uc004bpc.2		NA																	0				ovary(1)	1						c.(505-507)GAA>AAA		golgin 97							170.0	156.0	161.0					9																	127685430		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127685430C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.505G>A	9.37:g.127685430C>T	ENSP00000362656:p.Glu169Lys					GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.E144K	p.E169K	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			8	847	-			169			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.505G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514935	0.96402	.	.	ENSG00000136935	ENST00000373555	T	0.17854	2.25	5.42	5.42	0.78866	.	0.000000	0.45606	U	0.000350	T	0.38081	0.1027	L	0.53249	1.67	0.58432	D	0.999995	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.01675	-1.1298	10	0.33141	T	0.24	-14.9968	18.2181	0.89893	0.0:1.0:0.0:0.0	.	68;169	Q59HA1;Q92805	.;GOGA1_HUMAN	K	169	ENSP00000362656:E169K	ENSP00000362656:E169K	E	-	1	0	GOLGA1	126725251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.153000	0.77428	2.553000	0.86117	0.591000	0.81541	GAA		0.348	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		34	182	0	0	0	0	34	182				
SNAPC4	6621	broad.mit.edu	37	9	139272877	139272877	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:139272877C>A	ENST00000298532.2	-	21	3770	c.3402G>T	c.(3400-3402)tgG>tgT	p.W1134C		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGGGGCTGCCAAGAGCTGC	0.687																																						uc004chh.2		NA																	0					0						c.(3400-3402)TGG>TGT		small nuclear RNA activating complex,							14.0	18.0	16.0					9																	139272877		2172	4270	6442	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139272877C>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3402G>T	9.37:g.139272877C>A	ENSP00000298532:p.Trp1134Cys						p.W1134C	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	3411	-		Myeloproliferative disorder(178;0.0511)	1134			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.3402G>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	c	9.495	1.101679	0.20632	.	.	ENSG00000165684	ENST00000298532	T	0.21932	1.98	3.09	-4.24	0.03777	.	6.519030	0.00166	N	0.000003	T	0.14960	0.0361	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26538	-1.0100	10	0.45353	T	0.12	.	4.4961	0.11837	0.3925:0.3633:0.0:0.2442	.	1134	Q5SXM2	SNPC4_HUMAN	C	1134	ENSP00000298532:W1134C	ENSP00000298532:W1134C	W	-	3	0	SNAPC4	138392698	0.000000	0.05858	0.026000	0.17262	0.122000	0.20287	-0.692000	0.05127	-0.576000	0.05974	0.401000	0.26515	TGG		0.687	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	17	1	0	5.94e-07	6.6e-07	5	17				
IL1RAPL1	11141	broad.mit.edu	37	X	29938080	29938080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:29938080A>G	ENST00000378993.1	+	8	1599	c.926A>G	c.(925-927)cAt>cGt	p.H309R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.H309R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	309	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTAAGGAGCATCTTGGGGAA	0.363																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(925-927)CAT>CGT		interleukin 1 receptor accessory protein-like 1							208.0	176.0	187.0					X																	29938080		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938080A>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.926A>G	X.37:g.29938080A>G	ENSP00000368278:p.His309Arg						p.H309R	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1434	+			309			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.926A>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.668751	0.67814	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.66280	-0.2;-0.2	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051852	0.85682	D	0.000000	T	0.77018	0.4069	M	0.70595	2.14	0.54753	D	0.999989	D	0.67145	0.996	D	0.66847	0.947	T	0.77659	-0.2505	9	.	.	.	.	15.3142	0.74059	1.0:0.0:0.0:0.0	.	309	Q9NZN1	IRPL1_HUMAN	R	309	ENSP00000368278:H309R;ENSP00000305200:H309R	.	H	+	2	0	IL1RAPL1	29848001	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.962000	0.93254	2.000000	0.58554	0.425000	0.28330	CAT		0.363	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		42	107	0	0	0	0	42	107				
TEX11	56159	broad.mit.edu	37	X	69749731	69749731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:69749731C>T	ENST00000395889.2	-	30	2839	c.2684G>A	c.(2683-2685)cGt>cAt	p.R895H	TEX11_ENST00000374333.2_Missense_Mutation_p.R880H|TEX11_ENST00000344304.3_Missense_Mutation_p.R895H|TEX11_ENST00000374320.2_Missense_Mutation_p.R570H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	895					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GTTAAGGAAACGCAAGGCCAG	0.498																																						uc004dyl.2		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(2683-2685)CGT>CAT		testis expressed sequence 11 isoform 1							119.0	84.0	96.0					X																	69749731		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69749731C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2684G>A	X.37:g.69749731C>T	ENSP00000379226:p.Arg895His					TEX11_uc004dyk.2_Missense_Mutation_p.R570H|TEX11_uc004dym.2_Missense_Mutation_p.R880H	p.R895H	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			30	2846	-	Renal(35;0.156)		895					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2684G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310837	0.23821	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.49432	1.36;1.37;0.78;1.37	4.33	-0.647	0.11468	.	1.154960	0.06404	N	0.719285	T	0.42944	0.1225	L	0.52573	1.65	0.09310	N	1	P;P	0.51653	0.947;0.912	B;B	0.43052	0.406;0.229	T	0.39440	-0.9614	9	.	.	.	3.2695	8.508	0.33199	0.0:0.5233:0.0:0.4767	.	880;895	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	880;895;570;895	ENSP00000363453:R880H;ENSP00000379226:R895H;ENSP00000363440:R570H;ENSP00000340995:R895H	.	R	-	2	0	TEX11	69666456	0.996000	0.38824	0.000000	0.03702	0.413000	0.31143	0.541000	0.23207	-0.591000	0.05859	0.500000	0.49745	CGT		0.498	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			7	59	0	0	0	0	7	59				
TCEAL5	340543	broad.mit.edu	37	X	102528984	102528984	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:102528984A>C	ENST00000372680.1	-	3	802	c.508T>G	c.(508-510)Tgg>Ggg	p.W170G		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CTTTGCATCCAATGAAAACCA	0.512																																						uc004ejz.1		NA																	0				lung(1)|breast(1)	2						c.(508-510)TGG>GGG		transcription elongation factor A (SII)-like 5							140.0	129.0	132.0					X																	102528984		2203	4299	6502	SO:0001583	missense	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528984A>C		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.508T>G	X.37:g.102528984A>C	ENSP00000361765:p.Trp170Gly						p.W170G	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	803	-			170					A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	c.508T>G	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.188918	0.38707	.	.	ENSG00000204065	ENST00000372680	T	0.12879	2.64	2.16	2.16	0.27623	.	0.000000	0.36482	N	0.002563	T	0.32436	0.0829	M	0.80422	2.495	0.34556	D	0.711819	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.72032	D	0.01	.	5.6264	0.17485	1.0:0.0:0.0:0.0	.	170	Q5H9L2	TCAL5_HUMAN	G	170	ENSP00000361765:W170G	ENSP00000361765:W170G	W	-	1	0	TCEAL5	102415640	1.000000	0.71417	0.912000	0.35992	0.933000	0.57130	1.891000	0.39738	1.108000	0.41662	0.242000	0.17961	TGG		0.512	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		43	106	0	0	0	0	43	106				
MID2	11043	broad.mit.edu	37	X	107170195	107170195	+	Silent	SNP	C	C	A			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:107170195C>A	ENST00000262843.6	+	10	2648	c.2100C>A	c.(2098-2100)atC>atA	p.I700I	MID2_ENST00000443968.2_Silent_p.I670I|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	700	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCCTAATGATCCTGTCTGGCT	0.443																																						uc004enl.2		NA																	0				ovary(1)	1						c.(2098-2100)ATC>ATA		midline 2 isoform 1							131.0	106.0	114.0					X																	107170195		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107170195C>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.2100C>A	X.37:g.107170195C>A						MID2_uc004enk.2_Silent_p.I670I	p.I700I	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			10	2673	+			700			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.2100C>A	CCDS14532.2																																																																																				0.443	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		36	94	1	0	9.73e-26	1.15e-25	36	94				
LUZP4	51213	broad.mit.edu	37	X	114536558	114536558	+	Splice_Site	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:114536558C>T	ENST00000371920.3	+	2	100	c.93C>T	c.(91-93)gaC>gaT	p.D31D	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	31						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTAATACAGACGACATTATAA	0.299																																						uc004eqa.2		NA																	0		p.D31Y(1)		ovary(2)	2						c.(91-93)GAC>GAT		leucine zipper protein 4							62.0	62.0	62.0					X																	114536558		2203	4298	6501	SO:0001630	splice_region_variant	51213					nucleus		g.chrX:114536558C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.92-1C>T	X.37:g.114536558C>T						LUZP4_uc004eqb.2_Translation_Start_Site	p.D31D	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			2	127	+			31					B3KSD6	Silent	SNP	ENST00000371920.3	37	c.93C>T	CCDS14567.1																																																																																				0.299	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	Silent	17	36	0	0	0	0	17	36				
MAP7D3	79649	broad.mit.edu	37	X	135314215	135314215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chrX:135314215C>T	ENST00000316077.9	-	8	1121	c.901G>A	c.(901-903)Gca>Aca	p.A301T	MAP7D3_ENST00000370661.1_Missense_Mutation_p.A266T|MAP7D3_ENST00000370663.5_Missense_Mutation_p.A283T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	301					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCCACACTTGCCTTGGGAGGT	0.517																																						uc004ezt.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(901-903)GCA>ACA		MAP7 domain containing 3							185.0	177.0	179.0					X																	135314215		1990	4150	6140	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314215C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.901G>A	X.37:g.135314215C>T	ENSP00000318086:p.Ala301Thr					MAP7D3_uc004ezs.2_Missense_Mutation_p.A265T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A283T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A259T	p.A301T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			8	992	-	Acute lymphoblastic leukemia(192;0.000127)		301					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.901G>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310945	0.23821	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.67	-1.81	0.07882	.	.	.	.	.	T	0.02929	0.0087	N	0.05351	-0.065	0.09310	N	1	B;B;B;B	0.24721	0.067;0.046;0.027;0.11	B;B;B;B	0.18871	0.023;0.023;0.015;0.018	T	0.44221	-0.9342	9	0.20519	T	0.43	-1.3945	1.5908	0.02653	0.1175:0.3548:0.2266:0.3011	.	283;260;301;266	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	T	266;301;283;260	ENSP00000359695:A266T;ENSP00000318086:A301T;ENSP00000359697:A283T;ENSP00000359694:A260T	ENSP00000318086:A301T	A	-	1	0	MAP7D3	135141881	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.130000	0.10498	-0.738000	0.04817	-0.269000	0.10298	GCA		0.517	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			72	239	0	0	0	0	72	239				
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1066-1071)AAAGAGfs		calcium channel, voltage-dependent, R type,			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	p.K356fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1233_1234	+			356_357			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	157	NA	NA	NA	NA	8	157	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23451267	23451268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr14:23451267_23451268insG	ENST00000262713.2	-	1	583_584	c.208_209insC	c.(208-210)ctgfs	p.L70fs	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.L70fs|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	70	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CTCAGCGTCCAGGGAACCTTGC	0.693																																						uc001whz.2		NA																	0					0						c.(208-210)CTGfs		ajuba isoform 1																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451267_23451268insG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.209dupC	14.37:g.23451270_23451270dupG	ENSP00000262713:p.Leu70fs						p.L70fs	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	584_585	-	all_cancers(95;4.6e-05)		70			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.208_209insC	CCDS9581.1																																																																																				0.693	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			12	14	NA	NA	NA	NA	12	14	---	---	---	---
LINS	55180	broad.mit.edu	37	15	101120736	101120737	+	Frame_Shift_Ins	INS	-	-	AATA	rs61741890	byFrequency	TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr15:101120736_101120737insAATA	ENST00000314742.8	-	2	533_534	c.311_312insTATT	c.(310-312)ttgfs	p.L104fs	LINS_ENST00000561308.1_Frame_Shift_Ins_p.L104fs|LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	104										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTTGACAGACAATATCCGGGT	0.406																																						uc002bwe.2		NA																	0					0						c.(310-312)TTGfs		lines homolog 1																																				SO:0001589	frameshift_variant	55180							g.chr15:101120736_101120737insAATA	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.308_311dupTATT	15.37:g.101120737_101120740dupAATA	ENSP00000318423:p.Leu104fs					LINS1_uc002bwf.2_Frame_Shift_Ins_p.L104fs|LINS1_uc002bwg.2_Frame_Shift_Ins_p.L104fs|LINS1_uc002bwh.2_Frame_Shift_Ins_p.L104fs|LINS1_uc010usa.1_Intron|LINS1_uc002bwi.2_Frame_Shift_Ins_p.L104fs	p.L104fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		3	602_603	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		104					Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	37	c.311_312insTATT	CCDS10385.1																																																																																				0.406	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		12	122	NA	NA	NA	NA	12	122	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101476041	101476042	+	Splice_Site	INS	-	-	T			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr3:101476041_101476042insT	ENST00000341893.3	+	8	1779		c.e8+1		CEP97_ENST00000327230.4_Splice_Site|CEP97_ENST00000494050.1_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa						cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGGAAAGTGGTAAGAAATGAA	0.371																																						uc003dvk.1		NA																	0				ovary(2)	2						c.e8+1		centrosomal protein 97kDa																																				SO:0001630	splice_region_variant	79598					centrosome|nucleus	protein binding	g.chr3:101476041_101476042insT	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1027+1->T	3.37:g.101476042_101476042dupT						CEP97_uc010hpm.1_Splice_Site_p.E309_splice|CEP97_uc011bhf.1_Splice_Site_p.E343_splice|CEP97_uc003dvl.1_Splice_Site_p.E39_splice|CEP97_uc003dvm.1_Splice_Site_p.E181_splice	p.E343_splice	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			8	1054	+								B5MDY8|Q8NA71|Q9H5T9	Splice_Site	INS	ENST00000341893.3	37	c.1027_splice	CCDS2944.1																																																																																				0.371	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	Intron	33	200	NA	NA	NA	NA	33	200	---	---	---	---
DOLK	22845	broad.mit.edu	37	9	131708357	131708357	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5431-01A-01D-1512-08	TCGA-CV-5431-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f1a234f0-8890-4cf3-891f-c7a7423b1e75	9fd15bac-b77c-4246-b8d7-895e9cd0e4d3	g.chr9:131708357delA	ENST00000372586.3	-	1	1541	c.1226delT	c.(1225-1227)atcfs	p.I409fs	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	409					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GAGCAGGTAGATGTGTGTCAG	0.577																																						uc004bwr.2		NA																	0					0						c.(1225-1227)ATCfs		dolichol kinase							115.0	109.0	111.0					9																	131708357		2203	4300	6503	SO:0001589	frameshift_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708357delA	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1226delT	9.37:g.131708357delA	ENSP00000361667:p.Ile409fs					NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.I409fs	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			1	1656	-			409			Helical; (Potential).		Q5SRE6	Frame_Shift_Del	DEL	ENST00000372586.3	37	c.1226delT	CCDS6915.1																																																																																				0.577	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		20	91	NA	NA	NA	NA	20	91	---	---	---	---
