#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
ZMYM6	9204	broad.mit.edu	37	1	35484994	35484994	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:35484994G>A	ENST00000357182.4	-	4	615	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	ZMYM6_ENST00000317538.5_Silent_p.L130L|ZMYM6_ENST00000373333.1_Silent_p.L130L|ZMYM6_ENST00000487874.1_Silent_p.L130L|ZMYM6_ENST00000373340.2_Silent_p.L130L|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	130					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGAGGTGGCAGGCAGGCAGGT	0.403																																						uc001byh.2		NA																	0				ovary(3)	3						c.(388-390)CTG>TTG		zinc finger protein 258							151.0	140.0	143.0					1																	35484994		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35484994G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.388C>T	1.37:g.35484994G>A						ZMYM6_uc001byf.1_Silent_p.L130L|ZMYM6_uc010oht.1_Silent_p.L33L|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Silent_p.L130L|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Silent_p.L130L|ZMYM6_uc001byi.2_Silent_p.L130L|ZMYM6_uc001byk.2_Silent_p.L130L	p.L130L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			4	616	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	130			MYM-type 1.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.388C>T	CCDS387.2																																																																																				0.403	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		14	42	0	0	0	0	14	42				
INADL	10207	broad.mit.edu	37	1	62263043	62263043	+	Missense_Mutation	SNP	C	C	G	rs145732252		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:62263043C>G	ENST00000371158.2	+	11	1459	c.1345C>G	c.(1345-1347)Cta>Gta	p.L449V	INADL_ENST00000316485.6_Missense_Mutation_p.L449V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	449	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACACCTAACCCTAGTTCGAAG	0.443																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(1345-1347)CTA>GTA		InaD-like							223.0	198.0	207.0					1																	62263043		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62263043C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1345C>G	1.37:g.62263043C>G	ENSP00000360200:p.Leu449Val					INADL_uc009waf.1_Missense_Mutation_p.L449V|INADL_uc001daa.2_Missense_Mutation_p.L449V|INADL_uc001dad.3_Missense_Mutation_p.L146V	p.L449V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			11	1459	+			449			PDZ 3.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1345C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	7.519	0.656261	0.14580	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.09723	2.95;2.95	4.96	3.1	0.35709	PDZ/DHR/GLGF (4);	0.000000	0.53938	D	0.000044	T	0.17662	0.0424	L	0.35542	1.07	0.33834	D	0.630617	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.85130	0.995;0.994;0.997	T	0.16837	-1.0389	10	0.45353	T	0.12	.	6.1725	0.20424	0.0:0.6214:0.0:0.3786	.	449;449;449	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	449	ENSP00000360200:L449V;ENSP00000326199:L449V	ENSP00000255202:L449V	L	+	1	2	INADL	62035631	0.765000	0.28485	0.052000	0.19188	0.015000	0.08874	1.279000	0.33191	0.694000	0.31654	-0.218000	0.12543	CTA		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		27	96	0	0	0	0	27	96				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	80	0	0	0	0	4	80				
ARHGEF2	9181	broad.mit.edu	37	1	155924729	155924729	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:155924729C>G	ENST00000361247.4	-	14	1846	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.E584Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E582Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.E628Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E555Q|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.E555Q	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	583					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCTGTCTCAATCAGGGGG	0.478																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NA																	0				ovary(1)	1						c.(1747-1749)GAG>CAG		Rho/Rac guanine nucleotide exchange factor 2							117.0	114.0	115.0					1																	155924729		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155924729C>G	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1747G>C	1.37:g.155924729C>G	ENSP00000354837:p.Glu583Gln					ARHGEF2_uc001fmr.2_Missense_Mutation_p.E555Q|ARHGEF2_uc001fms.2_Missense_Mutation_p.E582Q|ARHGEF2_uc001fmu.2_Missense_Mutation_p.E627Q	p.E583Q	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			14	1865	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		583					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1747G>C	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456430	0.96223	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.70631	-0.49;-0.37;-0.36;-0.49;-0.5	5.86	5.86	0.93980	Pleckstrin homology-type (1);	0.000000	0.48767	D	0.000176	T	0.81786	0.4896	M	0.77486	2.375	0.58432	D	0.999996	D;D;D	0.76494	0.989;0.999;0.994	P;D;D	0.80764	0.889;0.994;0.949	T	0.80491	-0.1359	10	0.44086	T	0.13	-34.5412	17.6957	0.88281	0.0:1.0:0.0:0.0	.	627;583;582	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	Q	555;583;584;555;582	ENSP00000315325:E555Q;ENSP00000354837:E583Q;ENSP00000357298:E584Q;ENSP00000357299:E555Q;ENSP00000314787:E582Q	ENSP00000314787:E582Q	E	-	1	0	ARHGEF2	154191353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.943000	0.75934	2.776000	0.95493	0.655000	0.94253	GAG		0.478	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		14	71	0	0	0	0	14	71				
KIF14	9928	broad.mit.edu	37	1	200550381	200550381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:200550381G>A	ENST00000367350.4	-	20	3721	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1095	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGGCTTCCTGAATCATCATT	0.338																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3283-3285)CAG>TAG		kinesin family member 14							100.0	103.0	102.0					1																	200550381		2203	4300	6503	SO:0001587	stop_gained	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200550381G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3283C>T	1.37:g.200550381G>A	ENSP00000356319:p.Gln1095*					KIF14_uc010ppj.1_Nonsense_Mutation_p.Q604*	p.Q1095*	NM_014875	NP_055690	Q15058	KIF14_HUMAN			20	3722	-			1095			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Nonsense_Mutation	SNP	ENST00000367350.4	37	c.3283C>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	45	11.924733	0.99618	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.6	5.6	0.85130	.	0.129503	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	14.347	0.66672	0.0:0.0:0.8158:0.1842	.	.	.	.	X	1095	.	ENSP00000356319:Q1095X	Q	-	1	0	KIF14	198817004	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.739000	0.55075	2.631000	0.89168	0.591000	0.81541	CAG		0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		9	68	0	0	0	0	9	68				
IKBKE	9641	broad.mit.edu	37	1	206649530	206649530	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:206649530G>A	ENST00000367120.3	+	6	738	c.365G>A	c.(364-366)gGc>gAc	p.G122D	IKBKE_ENST00000537984.1_Missense_Mutation_p.G37D	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.G122D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTGGCCGGCATGAACCAC	0.617																																						uc001hdz.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(364-366)GGC>GAC		IKK-related kinase epsilon							58.0	52.0	54.0					1																	206649530		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206649530G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.365G>A	1.37:g.206649530G>A	ENSP00000356087:p.Gly122Asp					IKBKE_uc009xbu.1_Missense_Mutation_p.G122D|IKBKE_uc009xbv.1_Missense_Mutation_p.G122D|IKBKE_uc001hea.1_Missense_Mutation_p.G37D	p.G122D	NM_014002	NP_054721	Q14164	IKKE_HUMAN			6	733	+	Breast(84;0.137)		122			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.365G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748348	0.89663	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.59906	0.23;1.13	5.41	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	H	0.98295	4.195	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.91713	0.5383	10	0.87932	D	0	.	16.4035	0.83650	0.0:0.132:0.868:0.0	.	37;122	Q3B754;Q14164	.;IKKE_HUMAN	D	122;37	ENSP00000356087:G122D;ENSP00000444529:G37D	ENSP00000356087:G122D	G	+	2	0	IKBKE	204716153	1.000000	0.71417	0.995000	0.50966	0.847000	0.48162	9.805000	0.99149	1.389000	0.46526	0.491000	0.48974	GGC		0.617	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			3	39	0	0	0	0	3	39				
LYST	1130	broad.mit.edu	37	1	235940477	235940477	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:235940477G>A	ENST00000389794.3	-	17	5520	c.5346C>T	c.(5344-5346)agC>agT	p.S1782S	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.S1782S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1782					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAATAAGATGCTCTGAACTT	0.378																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5344-5346)AGC>AGT		lysosomal trafficking regulator							179.0	182.0	181.0					1																	235940477		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235940477G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5346C>T	1.37:g.235940477G>A						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.S1782S	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		17	5521	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1782					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.5346C>T	CCDS31062.1																																																																																				0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			21	84	0	0	0	0	21	84				
PIK3C2A	5286	broad.mit.edu	37	11	17126756	17126756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:17126756C>T	ENST00000265970.7	-	22	3640	c.3641G>A	c.(3640-3642)tGg>tAg	p.W1214*	PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.W834*|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1214	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTCCTTAGCCACTCTGCAAG	0.398																																						uc001mmq.3		NA																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(3640-3642)TGG>TAG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						102.0	97.0	99.0					11																	17126756		2200	4293	6493	SO:0001587	stop_gained	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17126756C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3641G>A	11.37:g.17126756C>T	ENSP00000265970:p.Trp1214*					PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.W834*|PIK3C2A_uc001mmr.3_Intron	p.W1214*	NM_002645	NP_002636	O00443	P3C2A_HUMAN			22	3707	-			1214			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	ENST00000265970.7	37	c.3641G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	42	9.245635	0.99113	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0141	19.5	0.95090	0.0:1.0:0.0:0.0	.	.	.	.	X	1214;834	.	ENSP00000265970:W1214X	W	-	2	0	PIK3C2A	17083332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.705000	0.84606	2.605000	0.88082	0.561000	0.74099	TGG		0.398	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		6	27	0	0	0	0	6	27				
SERGEF	26297	broad.mit.edu	37	11	18028145	18028145	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:18028145C>A	ENST00000265965.5	-	3	496	c.345G>T	c.(343-345)atG>atT	p.M115I	SERGEF_ENST00000532265.1_Start_Codon_SNP_p.M1I|SERGEF_ENST00000528200.1_Missense_Mutation_p.M115I|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	115					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CACCTGTGAGCATAATCGTAA	0.468																																						uc001mnm.2		NA																	0				central_nervous_system(1)	1						c.(343-345)ATG>ATT		deafness locus associated putative guanine							79.0	81.0	80.0					11																	18028145		2200	4293	6493	SO:0001583	missense	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18028145C>A	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.345G>T	11.37:g.18028145C>A	ENSP00000265965:p.Met115Ile					SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Missense_Mutation_p.M115I|SERGEF_uc010rcz.1_Missense_Mutation_p.M1I|SERGEF_uc001mno.1_Missense_Mutation_p.M1I	p.M115I	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN			3	425	-			115			RCC1 2.		Q9UGK9	Missense_Mutation	SNP	ENST00000265965.5	37	c.345G>T	CCDS7828.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033780	0.35893	.	.	ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389	T;T;T;T;T;T	0.78816	-1.21;-1.21;2.88;1.57;1.67;2.95	6.17	-7.88	0.01178	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.543789	0.20519	N	0.090729	T	0.35278	0.0926	N	0.01109	-1.01	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.05037	-1.0910	10	0.40728	T	0.16	-1.9967	1.9505	0.03365	0.2887:0.3574:0.0928:0.2611	.	1;1;115;115	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8	.;.;.;SRGEF_HUMAN	I	115;115;1;1;1;1	ENSP00000265965:M115I;ENSP00000434188:M115I;ENSP00000431314:M1I;ENSP00000437297:M1I;ENSP00000436080:M1I;ENSP00000435898:M1I	ENSP00000265965:M115I	M	-	3	0	SERGEF	17984721	0.763000	0.28462	0.966000	0.40874	0.986000	0.74619	-0.591000	0.05753	-0.843000	0.04189	-0.238000	0.12139	ATG		0.468	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		14	86	1	0	2.62e-11	3.06e-11	14	86				
OR4X1	390113	broad.mit.edu	37	11	48285470	48285470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:48285470A>G	ENST00000320048.1	+	1	58	c.58A>G	c.(58-60)Agt>Ggt	p.S20G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	20						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCAGAATTGGAGTGAGCAGAG	0.453																																						uc010rht.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(58-60)AGT>GGT		olfactory receptor, family 4, subfamily X,							153.0	143.0	146.0					11																	48285470		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285470A>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.58A>G	11.37:g.48285470A>G	ENSP00000321506:p.Ser20Gly						p.S20G	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	58	+			20			Extracellular (Potential).		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.58A>G	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	2.669	-0.277896	0.05679	.	.	ENSG00000176567	ENST00000320048	T	0.00438	7.42	4.25	-2.66	0.06077	.	.	.	.	.	T	0.00178	0.0005	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	9	0.42905	T	0.14	.	6.4983	0.22153	0.6376:0.1512:0.2113:0.0	.	20	Q8NH49	OR4X1_HUMAN	G	20	ENSP00000321506:S20G	ENSP00000321506:S20G	S	+	1	0	OR4X1	48242046	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.884000	0.04166	-0.683000	0.05190	-0.468000	0.05107	AGT		0.453	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		3	55	0	0	0	0	3	55				
MS4A14	84689	broad.mit.edu	37	11	60183772	60183772	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:60183772A>T	ENST00000300187.6	+	5	1608	c.1331A>T	c.(1330-1332)aAc>aTc	p.N444I	MS4A14_ENST00000395005.2_Missense_Mutation_p.N427I|MS4A14_ENST00000531783.1_Missense_Mutation_p.N477I|MS4A14_ENST00000531787.1_Missense_Mutation_p.N332I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	444	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAACCAGAAAACACTGAACCT	0.413																																						uc001npj.2		NA																	0				breast(1)	1						c.(1330-1332)AAC>ATC		membrane-spanning 4-domains, subfamily A, member							72.0	73.0	73.0					11																	60183772		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183772A>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1331A>T	11.37:g.60183772A>T	ENSP00000300187:p.Asn444Ile					MS4A14_uc001npi.2_Missense_Mutation_p.N332I|MS4A14_uc001npn.2_Missense_Mutation_p.N182I|MS4A14_uc001npk.2_Missense_Mutation_p.N427I|MS4A14_uc001npl.2_Missense_Mutation_p.N182I|MS4A14_uc001npm.2_Missense_Mutation_p.N182I	p.N444I	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1896	+			444			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1331A>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763288	0.49574	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.56103	0.48;1.59;0.5;2.01	3.11	3.11	0.35812	.	.	.	.	.	T	0.63034	0.2477	L	0.50333	1.59	0.48762	D	0.999704	D;D	0.71674	0.998;0.997	D;D	0.73380	0.98;0.956	T	0.64706	-0.6344	9	0.72032	D	0.01	-8.618	9.9193	0.41455	1.0:0.0:0.0:0.0	.	427;444	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	332;444;427;477	ENSP00000437222:N332I;ENSP00000300187:N444I;ENSP00000378453:N427I;ENSP00000433761:N477I	ENSP00000300187:N444I	N	+	2	0	MS4A14	59940348	0.001000	0.12720	0.005000	0.12908	0.029000	0.11900	0.262000	0.18460	1.368000	0.46115	0.455000	0.32223	AAC		0.413	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			10	51	0	0	0	0	10	51				
TBC1D10C	374403	broad.mit.edu	37	11	67176566	67176566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:67176566C>T	ENST00000542590.1	+	8	969	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.P254L|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.P319S			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	319					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCGAGCCATCCCCCCCGCGCA	0.692																																						uc001ola.2		NA																	0					0						c.(955-957)CCC>TCC		TBC1 domain family, member 10C							20.0	20.0	20.0					11																	67176566		2194	4291	6485	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67176566C>T	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.955C>T	11.37:g.67176566C>T	ENSP00000443654:p.Pro319Ser					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.P254L|TBC1D10C_uc001olb.2_RNA	p.P319S	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	984	+			319					G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.955C>T	CCDS8162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.20|11.20	1.569706|1.569706	0.28003|0.28003	.|.	.|.	ENSG00000175463|ENSG00000175463	ENST00000526387|ENST00000312390;ENST00000542590	.|T;T	.|0.08370	.|3.1;3.1	4.94|4.94	4.03|4.03	0.46877|0.46877	.|Rab-GAP/TBC domain (1);	0.000000|0.000000	0.45606|0.45606	D|D	0.000356|0.000356	T|T	0.08891|0.08891	0.0220|0.0220	L|L	0.46741|0.46741	1.465|1.465	0.33440|0.33440	D|D	0.582223|0.582223	B|B	0.10296|0.30114	0.003|0.269	B|B	0.08055|0.35550	0.003|0.205	T|T	0.07558|0.07558	-1.0766|-1.0766	9|10	0.87932|0.07482	D|T	0|0.82	.|.	12.5349|12.5349	0.56137|0.56137	0.0:0.9176:0.0:0.0824|0.0:0.9176:0.0:0.0824	.|.	254|319	G3V1D6|Q8IV04	.|TB10C_HUMAN	L|S	254|319	.|ENSP00000310193:P319S;ENSP00000443654:P319S	ENSP00000435543:P254L|ENSP00000310193:P319S	P|P	+|+	2|1	0|0	TBC1D10C|TBC1D10C	66933142|66933142	0.015000|0.015000	0.18098|0.18098	0.405000|0.405000	0.26409|0.26409	0.300000|0.300000	0.27592|0.27592	0.404000|0.404000	0.20999|0.20999	1.321000|1.321000	0.45227|0.45227	-0.254000|-0.254000	0.11334|0.11334	CCC|CCC		0.692	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		4	13	0	0	0	0	4	13				
TRPC6	7225	broad.mit.edu	37	11	101323814	101323814	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:101323814C>G	ENST00000344327.3	-	13	3092	c.2668G>C	c.(2668-2670)Gac>Cac	p.D890H	TRPC6_ENST00000360497.4_Missense_Mutation_p.D835H|TRPC6_ENST00000532133.1_Missense_Mutation_p.D812H|TRPC6_ENST00000348423.4_Missense_Mutation_p.D774H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	890					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGAGATGTCCTGCTTAATT	0.398																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2668-2670)GAC>CAC		transient receptor potential cation channel,							132.0	128.0	129.0					11																	101323814		2203	4300	6503	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323814C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2668G>C	11.37:g.101323814C>G	ENSP00000340913:p.Asp890His					TRPC6_uc009ywy.2_Missense_Mutation_p.D774H	p.D890H	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3093	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	890			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2668G>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831535	0.91036	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95466	0.8547	10	0.87932	D	0	-16.1111	19.7968	0.96490	0.0:1.0:0.0:0.0	.	774;890	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	H	890;812;774;835	ENSP00000340913:D890H;ENSP00000435574:D812H;ENSP00000343672:D774H;ENSP00000353687:D835H	ENSP00000340913:D890H	D	-	1	0	TRPC6	100829024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.679000	0.91253	0.650000	0.86243	GAC		0.398	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		8	61	0	0	0	0	8	61				
GUCY1A2	2977	broad.mit.edu	37	11	106810420	106810420	+	Silent	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:106810420A>G	ENST00000526355.2	-	4	1440	c.972T>C	c.(970-972)tgT>tgC	p.C324C	GUCY1A2_ENST00000347596.2_Silent_p.C324C|GUCY1A2_ENST00000282249.2_Silent_p.C324C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	324					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGAAGGCTCTACAGAAGGTGT	0.458																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(970-972)TGT>TGC		guanylate cyclase 1, soluble, alpha 2							83.0	73.0	76.0					11																	106810420		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810420A>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.972T>C	11.37:g.106810420A>G						GUCY1A2_uc010rvo.1_Silent_p.C324C|GUCY1A2_uc009yxn.1_Silent_p.C324C	p.C324C	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1362	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	324					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.972T>C	CCDS8335.1																																																																																				0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			9	25	0	0	0	0	9	25				
OPCML	4978	broad.mit.edu	37	11	132527154	132527154	+	Silent	SNP	G	G	A	rs142071206	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr11:132527154G>A	ENST00000331898.7	-	2	806	c.228C>T	c.(226-228)taC>taT	p.Y76Y	OPCML_ENST00000524381.1_Silent_p.Y69Y|OPCML_ENST00000541867.1_Silent_p.Y76Y|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.Y35Y	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	76	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATTCCCAGCGTAGAGGATGG	0.542																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(226-228)TAC>TAT		opioid binding protein/cell adhesion		G	,	2,4400	4.2+/-10.8	0,2,2199	182.0	132.0	149.0		207,228	-8.2	0.5	11	dbSNP_134	149	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,	69/339,76/346	132527154	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527154G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.228C>T	11.37:g.132527154G>A						OPCML_uc001qgu.2_Silent_p.Y69Y|OPCML_uc010sck.1_Silent_p.Y76Y|OPCML_uc001qgt.2_Silent_p.Y76Y|OPCML_uc010scl.1_Silent_p.Y35Y	p.Y76Y	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	278	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	76			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.228C>T	CCDS8492.1																																																																																				0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		12	71	0	0	0	0	12	71				
PLEKHA5	54477	broad.mit.edu	37	12	19413942	19413942	+	Silent	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:19413942C>G	ENST00000299275.6	+	7	603	c.597C>G	c.(595-597)ctC>ctG	p.L199L	PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Silent_p.L199L|PLEKHA5_ENST00000538714.1_Silent_p.L199L|PLEKHA5_ENST00000429027.2_Silent_p.L199L|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000424268.1_Silent_p.L91L|PLEKHA5_ENST00000317589.4_Silent_p.L199L|PLEKHA5_ENST00000359180.3_Silent_p.L199L|PLEKHA5_ENST00000355397.3_Silent_p.L199L|PLEKHA5_ENST00000543806.1_Silent_p.L91L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	199	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.L199L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCTTTGCCTCTTTTATTATA	0.303																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(595-597)CTC>CTG		pleckstrin homology domain containing, family A							209.0	211.0	211.0					12																	19413942		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19413942C>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.597C>G	12.37:g.19413942C>G						PLEKHA5_uc010sie.1_Silent_p.L199L|PLEKHA5_uc001rea.2_Silent_p.L199L|PLEKHA5_uc009zin.2_Intron|PLEKHA5_uc010sif.1_Silent_p.L91L|PLEKHA5_uc010sig.1_Silent_p.L91L|PLEKHA5_uc010sih.1_Silent_p.L91L	p.L199L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			7	683	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		199			PH.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.597C>G	CCDS8682.1																																																																																				0.303	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		21	123	0	0	0	0	21	123				
ADAMTS20	80070	broad.mit.edu	37	12	43944807	43944807	+	Missense_Mutation	SNP	C	C	T	rs549375197		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:43944807C>T	ENST00000389420.3	-	2	357	c.358G>A	c.(358-360)Gac>Aac	p.D120N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D120N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	120					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGCCCTGCGTCGCTCTCCCAG	0.662																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(358-360)GAC>AAC		a disintegrin-like and metalloprotease with							24.0	27.0	26.0					12																	43944807		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944807C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.358G>A	12.37:g.43944807C>T	ENSP00000374071:p.Asp120Asn						p.D120N	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	358	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	120					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.358G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	4.587	0.109123	0.08780	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05925	3.37;3.37	3.22	-4.2	0.03823	Peptidase M12B, propeptide (1);	1.175710	0.06479	N	0.732518	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.36535	0.557	B	0.25884	0.064	T	0.45440	-0.9261	10	0.21540	T	0.41	.	5.9006	0.18964	0.0:0.3776:0.137:0.4854	.	120	P59510	ATS20_HUMAN	N	120	ENSP00000374071:D120N;ENSP00000448341:D120N	ENSP00000374068:D120N	D	-	1	0	ADAMTS20	42231074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.717000	0.04986	-0.920000	0.03799	0.591000	0.81541	GAC		0.662	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	29	0	0	0	0	5	29				
MYBPC1	4604	broad.mit.edu	37	12	102028349	102028349	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:102028349C>T	ENST00000550270.1	+	7	499	c.499C>T	c.(499-501)Cca>Tca	p.P167S	MYBPC1_ENST00000536007.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P68S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P154S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P141S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P153S|MYBPC1_ENST00000549145.1_Missense_Mutation_p.P180S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P155S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	167					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGGGACTACTCCAAACATTGA	0.358																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(499-501)CCA>TCA		myosin binding protein C, slow type isoform 3							97.0	93.0	94.0					12																	102028349		2203	4299	6502	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102028349C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.499C>T	12.37:g.102028349C>T	ENSP00000449702:p.Pro167Ser					MYBPC1_uc001tif.1_Missense_Mutation_p.P180S|MYBPC1_uc001tig.2_Missense_Mutation_p.P192S|MYBPC1_uc010svq.1_Missense_Mutation_p.P154S|MYBPC1_uc001tih.2_Missense_Mutation_p.P192S|MYBPC1_uc001tij.2_Missense_Mutation_p.P167S|MYBPC1_uc010svr.1_Missense_Mutation_p.P167S|MYBPC1_uc010svs.1_Missense_Mutation_p.P167S|MYBPC1_uc010svt.1_Missense_Mutation_p.P155S|MYBPC1_uc010svu.1_Missense_Mutation_p.P167S|MYBPC1_uc001tik.2_Missense_Mutation_p.P141S	p.P167S	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			7	601	+			167					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.499C>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632688	0.29068	.	.	ENSG00000196091	ENST00000550514;ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.92099	-2.97;0.45;0.45;0.44;0.45;0.45;0.43;0.46;0.44;0.46;0.43;0.44;0.44;0.44;0.47;0.45	5.87	5.87	0.94306	.	0.000000	0.51477	D	0.000093	D	0.89632	0.6771	N	0.08118	0	0.48135	D	0.999597	P;P;B;P;P;B;P;P;B;P;P	0.39352	0.484;0.632;0.001;0.484;0.669;0.099;0.618;0.484;0.001;0.618;0.618	B;B;B;B;P;B;P;B;B;P;P	0.51833	0.29;0.29;0.002;0.29;0.681;0.12;0.483;0.35;0.005;0.483;0.553	D	0.86448	0.1771	10	0.18710	T	0.47	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	167;155;167;167;154;141;167;167;192;192;180	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	S	68;141;167;167;167;154;153;192;180;167;192;167;167;155;192;68;167	ENSP00000447404:P68S;ENSP00000448175:P141S;ENSP00000400908:P167S;ENSP00000388989:P167S;ENSP00000353822:P167S;ENSP00000376665:P154S;ENSP00000447362:P153S;ENSP00000354845:P192S;ENSP00000447660:P180S;ENSP00000447900:P167S;ENSP00000440034:P167S;ENSP00000446128:P167S;ENSP00000442847:P155S;ENSP00000354849:P192S;ENSP00000447116:P68S;ENSP00000449702:P167S	ENSP00000353822:P167S	P	+	1	0	MYBPC1	100552480	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.176000	0.77643	2.941000	0.99782	0.655000	0.94253	CCA		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			4	46	0	0	0	0	4	46				
ALKBH2	121642	broad.mit.edu	37	12	109530419	109530419	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:109530419C>T	ENST00000429722.2	-	2	536	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	ALKBH2_ENST00000343075.3_Missense_Mutation_p.R58Q|ALKBH2_ENST00000440112.2_Missense_Mutation_p.R58Q	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	58					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGAATGTGCCGCCAGCTAGG	0.547								Direct reversal of damage																														uc001tnx.2		NA																	0					0						c.(172-174)CGG>CAG	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						126.0	132.0	130.0					12																	109530419		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530419C>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.173G>A	12.37:g.109530419C>T	ENSP00000398181:p.Arg58Gln					ALKBH2_uc001tny.2_Missense_Mutation_p.R58Q|ALKBH2_uc010sxj.1_Missense_Mutation_p.R58Q|ALKBH2_uc009zvd.2_Missense_Mutation_p.R58Q|ALKBH2_uc010sxk.1_Missense_Mutation_p.R58Q	p.R58Q	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			2	566	-			58					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.173G>A	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035567	0.35893	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.21734	1.99;1.99	5.76	-5.89	0.02282	.	0.588268	0.19232	N	0.119388	T	0.07413	0.0187	N	0.11560	0.145	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.10450	0.005;0.0	T	0.37798	-0.9690	10	0.08599	T	0.76	-3.8088	10.8223	0.46612	0.102:0.1825:0.0:0.7155	.	58;58	A4PET2;Q6NS38	.;ALKB2_HUMAN	Q	58	ENSP00000398181:R58Q;ENSP00000343021:R58Q	ENSP00000343021:R58Q	R	-	2	0	ALKBH2	108014802	0.001000	0.12720	0.000000	0.03702	0.687000	0.40016	-1.459000	0.02370	-1.038000	0.03279	0.563000	0.77884	CGG		0.547	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		22	132	0	0	0	0	22	132				
RIMBP2	23504	broad.mit.edu	37	12	130927037	130927037	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:130927037G>A	ENST00000261655.4	-	8	972	c.809C>T	c.(808-810)cCa>cTa	p.P270L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P178L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P178L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	270					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TATGTGGGTTGGGGAGTGGAG	0.577																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(808-810)CCA>CTA		RIM-binding protein 2							218.0	187.0	198.0					12																	130927037		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130927037G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.809C>T	12.37:g.130927037G>A	ENSP00000261655:p.Pro270Leu					RIMBP2_uc001uim.2_Missense_Mutation_p.P178L|RIMBP2_uc001uin.1_5'UTR	p.P270L	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	973	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	270					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.809C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874233	0.33069	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20598	2.06;2.87;2.87	4.53	4.53	0.55603	.	0.322379	0.29699	N	0.011427	T	0.25938	0.0632	M	0.67953	2.075	0.80722	D	1	P;P	0.46706	0.604;0.883	B;B	0.40375	0.156;0.327	T	0.10291	-1.0636	10	0.28530	T	0.3	-16.1699	17.2843	0.87137	0.0:0.0:1.0:0.0	.	178;270	O15034-2;O15034	.;RIMB2_HUMAN	L	270;178;178;178	ENSP00000261655:P270L;ENSP00000440347:P178L;ENSP00000439159:P178L	ENSP00000261655:P270L	P	-	2	0	RIMBP2	129492990	1.000000	0.71417	0.011000	0.14972	0.079000	0.17450	4.969000	0.63735	2.053000	0.61076	0.561000	0.74099	CCA		0.577	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		15	110	0	0	0	0	15	110				
ZNF10	7556	broad.mit.edu	37	12	133732617	133732617	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr12:133732617A>T	ENST00000248211.6	+	5	1007	c.785A>T	c.(784-786)gAg>gTg	p.E262V	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.E262V|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	262				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATACATAGAGAGAAACCCTAT	0.398																																						uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(784-786)GAG>GTG		zinc finger protein 10							67.0	67.0	67.0					12																	133732617		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732617A>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.785A>T	12.37:g.133732617A>T	ENSP00000248211:p.Glu262Val					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.E262V	p.E262V	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1232	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	262	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.785A>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607860	0.66558	.	.	ENSG00000256223	ENST00000248211;ENST00000426665	T;T	0.06687	3.27;3.27	3.83	2.57	0.30868	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000848	T	0.14743	0.0356	L	0.56769	1.78	0.80722	D	1	P	0.52316	0.952	P	0.53593	0.73	T	0.01549	-1.1327	9	.	.	.	.	9.0121	0.36148	0.8344:0.0:0.0:0.1656	.	262	P21506	ZNF10_HUMAN	V	262	ENSP00000248211:E262V;ENSP00000393814:E262V	.	E	+	2	0	ZNF10	132242690	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.076000	0.57591	1.738000	0.51689	0.482000	0.46254	GAG		0.398	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		5	49	0	0	0	0	5	49				
POMP	51371	broad.mit.edu	37	13	29252224	29252224	+	Silent	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr13:29252224A>G	ENST00000380842.4	+	6	492	c.411A>G	c.(409-411)aaA>aaG	p.K137K	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	137					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TGGAATATAAACTTGGTTTAC	0.358																																						uc001usf.2		NA																	0					0						c.(409-411)AAA>AAG		proteasome maturation protein							237.0	215.0	222.0					13																	29252224		2203	4300	6503	SO:0001819	synonymous_variant	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29252224A>G	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.411A>G	13.37:g.29252224A>G							p.K137K	NM_015932	NP_057016	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	6	492	+		Lung SC(185;0.0367)	137					A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	ENST00000380842.4	37	c.411A>G	CCDS9331.1																																																																																				0.358	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		11	40	0	0	0	0	11	40				
TRPC4	7223	broad.mit.edu	37	13	38211559	38211559	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr13:38211559C>T	ENST00000379705.3	-	11	3272	c.2415G>A	c.(2413-2415)ccG>ccA	p.P805P	TRPC4_ENST00000338947.5_Silent_p.P632P|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Silent_p.P632P|TRPC4_ENST00000379681.3_Silent_p.P810P|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	805	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGCTGATCTCGGATGAATCA	0.443																																						uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2413-2415)CCG>CCA		transient receptor potential cation channel,							86.0	84.0	85.0					13																	38211559		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211559C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2415G>A	13.37:g.38211559C>T						TRPC4_uc010abv.2_Silent_p.P385P|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.P632P|TRPC4_uc010abx.2_Silent_p.P810P|TRPC4_uc010aby.2_Intron	p.P805P	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	2650	-			805			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2415G>A	CCDS9365.1																																																																																				0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	79	0	0	0	0	10	79				
RNF31	55072	broad.mit.edu	37	14	24629560	24629560	+	Missense_Mutation	SNP	C	C	T	rs201477229		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:24629560C>T	ENST00000324103.6	+	20	3429	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C	RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R512C|IRF9_ENST00000396864.3_5'Flank|IRF9_ENST00000557894.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.R886C|RNA5SP383_ENST00000362934.1_RNA|RNF31_ENST00000559275.1_Missense_Mutation_p.R886C	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	1037	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTGCACGTACGCCCCCAGCC	0.582											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wmn.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(3109-3111)CGC>TGC		ring finger protein 31		C	CYS/ARG	1,4051		0,1,2025	78.0	79.0	79.0		3109	3.3	0.0	14		79	0,8384		0,0,4192	no	missense	RNF31	NM_017999.4	180	0,1,6217	TT,TC,CC		0.0,0.0247,0.0080	possibly-damaging	1037/1073	24629560	1,12435	2026	4192	6218	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24629560C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.3109C>T	14.37:g.24629560C>T	ENSP00000315112:p.Arg1037Cys		OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	RNF31_uc001wml.1_Missense_Mutation_p.R886C|RNF31_uc010alg.1_Missense_Mutation_p.R796C|RNF31_uc001wmo.1_Missense_Mutation_p.R504C|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.R221C|IRF9_uc001wmq.2_5'Flank|IRF9_uc010alj.2_5'Flank	p.R1037C	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	20	3358	+			1037					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.3109C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320232	0.23994	2.47E-4	0.0	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.44482	0.92;0.92	5.13	3.27	0.37495	.	0.703524	0.15173	N	0.276512	T	0.25121	0.0610	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.46064	0.798;0.628;0.798;0.872	B;B;B;B	0.40101	0.109;0.163;0.109;0.319	T	0.10222	-1.0639	10	0.51188	T	0.08	-0.5972	3.9257	0.09262	0.1705:0.5783:0.1643:0.0869	.	1037;796;1037;886	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	C	470;1037;886	ENSP00000315112:R1037C;ENSP00000372134:R886C	ENSP00000315112:R1037C	R	+	1	0	RNF31	23699400	0.507000	0.26146	0.007000	0.13788	0.536000	0.34869	1.975000	0.40569	0.833000	0.34828	0.655000	0.94253	CGC		0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		24	111	0	0	0	0	24	111				
MDGA2	161357	broad.mit.edu	37	14	47351384	47351384	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:47351384T>C	ENST00000399232.2	-	11	2436	c.2072A>G	c.(2071-2073)aAt>aGt	p.N691S	MDGA2_ENST00000357362.3_Missense_Mutation_p.N462S|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.N760S|MDGA2_ENST00000426342.1_Missense_Mutation_p.N462S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	691	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AATATTCCCATTTATTTTAAT	0.373																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2071-2073)AAT>AGT		MAM domain containing 1 isoform 1							65.0	61.0	62.0					14																	47351384		1817	4079	5896	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351384T>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.2072A>G	14.37:g.47351384T>C	ENSP00000382178:p.Asn691Ser					MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.N462S|MDGA2_uc010ani.2_Missense_Mutation_p.N251S	p.N691S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			11	2268	-			691					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2072A>G		.	.	.	.	.	.	.	.	.	.	T	12.75	2.030825	0.35797	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.61980	0.22;0.43;0.06;0.43	5.4	4.05	0.47172	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.220198	0.28895	U	0.013786	T	0.42765	0.1217	N	0.22421	0.69	0.80722	D	1	B;B	0.22480	0.0;0.07	B;B	0.22753	0.002;0.041	T	0.25187	-1.0139	10	0.08599	T	0.76	.	10.761	0.46264	0.0:0.0899:0.0:0.9101	.	462;691	F6W3S7;Q7Z553	.;MDGA2_HUMAN	S	691;462;760;462	ENSP00000400011:N691S;ENSP00000405456:N462S;ENSP00000382178:N760S;ENSP00000349925:N462S	ENSP00000349925:N462S	N	-	2	0	MDGA2	46421134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.121000	0.50438	2.059000	0.61396	0.383000	0.25322	AAT		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		3	23	0	0	0	0	3	23				
NID2	22795	broad.mit.edu	37	14	52481904	52481904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:52481904C>T	ENST00000216286.5	-	15	3117	c.3118G>A	c.(3118-3120)Gtg>Atg	p.V1040M	NID2_ENST00000541773.1_Missense_Mutation_p.V939M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1040	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACTGGGGCACGTACTGGTCA	0.632																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3118-3120)GTG>ATG		nidogen 2 precursor							57.0	51.0	53.0					14																	52481904		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481904C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3118G>A	14.37:g.52481904C>T	ENSP00000216286:p.Val1040Met					NID2_uc010tqs.1_Missense_Mutation_p.V992M|NID2_uc010tqt.1_Missense_Mutation_p.V1040M|NID2_uc001wzp.2_Missense_Mutation_p.V1040M	p.V1040M	NM_007361	NP_031387	Q14112	NID2_HUMAN			15	3352	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1040			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3118G>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534523|3.534523	0.64972|0.64972	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.66460	.|-0.21;-0.21	5.67|5.67	4.76|4.76	0.60689|0.60689	.|Thyroglobulin type-1 (6);	.|0.307436	.|0.35870	.|N	.|0.002936	T|T	0.80747|0.80747	0.4682|0.4682	M|M	0.74389|0.74389	2.26|2.26	0.32173|0.32173	N|N	0.581438|0.581438	.|D;D;D;D	.|0.89917	.|0.977;1.0;1.0;0.997	.|P;D;D;P	.|0.91635	.|0.73;0.999;0.993;0.876	D|D	0.83392|0.83392	0.0018|0.0018	5|10	.|0.31617	.|T	.|0.26	.|.	16.0582|16.0582	0.80820|0.80820	0.0:0.8654:0.1346:0.0|0.0:0.8654:0.1346:0.0	.|.	.|634;939;1042;1040	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	H|M	308|1040;634;939;1042	.|ENSP00000216286:V1040M;ENSP00000443730:V939M	.|ENSP00000216286:V1040M	R|V	-|-	2|1	0|0	NID2|NID2	51551654|51551654	0.263000|0.263000	0.24083|0.24083	0.986000|0.986000	0.45419|0.45419	0.978000|0.978000	0.69477|0.69477	0.791000|0.791000	0.26915|0.26915	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.632	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			17	81	0	0	0	0	17	81				
RPS6KL1	83694	broad.mit.edu	37	14	75376271	75376271	+	Silent	SNP	G	G	A	rs200092346	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:75376271G>A	ENST00000555647.1	-	8	1532	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	RPS6KL1_ENST00000358328.4_Silent_p.P415P|RPS6KL1_ENST00000557413.1_Silent_p.P415P|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000354625.2_Silent_p.P384P			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCAGGTTCCCGGGGTGGAGGT	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16517	0.0		0.0	False		,,,				2504	0.0					uc010tux.1		NA																	0				ovary(1)|stomach(1)|central_nervous_system(1)	3						c.(1243-1245)CCC>CCT		ribosomal protein S6 kinase-like 1																																				SO:0001819	synonymous_variant	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75376271G>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1245C>T	14.37:g.75376271G>A						RPS6KL1_uc001xqx.1_Silent_p.P167P|RPS6KL1_uc001xqw.2_Silent_p.P384P|RPS6KL1_uc010asd.1_RNA	p.P415P	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	7	1773	-			415			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Silent	SNP	ENST00000555647.1	37	c.1245C>T	CCDS9834.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.144	0.785812	0.16189	.	.	ENSG00000198208	ENST00000556848	T	0.37411	1.2	4.5	-0.647	0.11468	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05386	-1.0888	6	.	.	.	-23.2288	3.5495	0.07841	0.3214:0.0:0.3944:0.2842	.	.	.	.	L	34	ENSP00000451795:P34L	.	P	-	2	0	RPS6KL1	74446024	0.129000	0.22400	0.904000	0.35570	0.773000	0.43773	0.082000	0.14847	-0.338000	0.08413	-0.448000	0.05591	CCG		0.672	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			12	45	0	0	0	0	12	45				
UNC79	57578	broad.mit.edu	37	14	94120290	94120290	+	Silent	SNP	G	G	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr14:94120290G>C	ENST00000393151.2	+	38	6318	c.6318G>C	c.(6316-6318)ggG>ggC	p.G2106G	UNC79_ENST00000256339.4_Silent_p.G1929G|UNC79_ENST00000553484.1_Silent_p.G2128G|UNC79_ENST00000555664.1_Silent_p.G2067G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2106					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCCAGATGGGACTTTTTTAC	0.483																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(5851-5853)GGG>GGC		hypothetical protein LOC57578							175.0	160.0	165.0					14																	94120290		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94120290G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6318G>C	14.37:g.94120290G>C						KIAA1409_uc001ybs.1_Silent_p.G1929G	p.G1951G	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	36	5936	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2106					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5853G>C																																																																																					0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	162	0	0	0	0	5	162				
ADAMTS7	11173	broad.mit.edu	37	15	79054873	79054873	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr15:79054873C>T	ENST00000388820.4	-	23	4985	c.4775G>A	c.(4774-4776)cGc>cAc	p.R1592H		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1592	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTTGACCAGGCGCCGCTGGAC	0.677																																						uc002bej.3		NA																	0					0						c.(4774-4776)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							23.0	20.0	21.0					15																	79054873		2192	4292	6484	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79054873C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4775G>A	15.37:g.79054873C>T	ENSP00000373472:p.Arg1592His						p.R1592H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			23	4986	-			1592			TSP type-1 8.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4775G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	31	5.070638	0.93950	.	.	ENSG00000136378	ENST00000388820	T	0.78707	-1.2	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.92149	0.7511	H	0.97440	4.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.81914	0.995	D	0.95058	0.8193	10	0.87932	D	0	.	15.9555	0.79884	0.0:1.0:0.0:0.0	.	1592	Q9UKP4	ATS7_HUMAN	H	1592	ENSP00000373472:R1592H	ENSP00000373472:R1592H	R	-	2	0	ADAMTS7	76841928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.538000	0.67193	2.082000	0.62665	0.472000	0.43445	CGC		0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	12	0	0	0	0	3	12				
PEX11A	8800	broad.mit.edu	37	15	90226612	90226612	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr15:90226612C>T	ENST00000300056.3	-	3	889	c.740G>A	c.(739-741)cGt>cAt	p.R247H	PEX11A_ENST00000561257.1_Missense_Mutation_p.R216H|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	247					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AACACCCTAACGGGTCTTCAG	0.443																																						uc002boi.2		NA																	0					0						c.(739-741)CGT>CAT		peroxisomal biogenesis factor 11 alpha							188.0	196.0	193.0					15																	90226612		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226612C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.740G>A	15.37:g.90226612C>T	ENSP00000300056:p.Arg247His					PEX11A_uc010upy.1_RNA	p.R247H	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	835	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		247			Cytoplasmic (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.740G>A	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844312	0.16963	.	.	ENSG00000166821	ENST00000300056	T	0.47528	0.84	5.22	-0.75	0.11080	.	1.118260	0.06651	N	0.762791	T	0.25606	0.0623	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	10	0.62326	D	0.03	.	4.5472	0.12087	0.1475:0.5035:0.0:0.3489	.	247	O75192	PX11A_HUMAN	H	247	ENSP00000300056:R247H	ENSP00000300056:R247H	R	-	2	0	PEX11A	88027616	0.000000	0.05858	0.002000	0.10522	0.248000	0.25809	-0.536000	0.06135	-0.324000	0.08589	-0.140000	0.14226	CGT		0.443	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		62	207	0	0	0	0	62	207				
MVP	9961	broad.mit.edu	37	16	29848052	29848052	+	Missense_Mutation	SNP	C	C	T	rs150165807		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:29848052C>T	ENST00000357402.5	+	7	820	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	MVP_ENST00000395353.1_Missense_Mutation_p.H228Y|MVP_ENST00000452209.2_Missense_Mutation_p.A42V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	228					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACAGCCCTGCACCTCCGGGC	0.622																																						uc002dui.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(682-684)CAC>TAC		major vault protein		C	TYR/HIS,TYR/HIS	1,4393	2.1+/-5.4	0,1,2196	36.0	41.0	39.0		682,682	5.5	1.0	16	dbSNP_134	39	0,8600		0,0,4300	no	missense,missense	MVP	NM_005115.4,NM_017458.3	83,83	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	228/894,228/894	29848052	1,12993	2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29848052C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.682C>T	16.37:g.29848052C>T	ENSP00000349977:p.His228Tyr					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.H228Y|MVP_uc010vea.1_5'UTR	p.H228Y	NM_005115	NP_005106	Q14764	MVP_HUMAN			7	766	+			228			MVP 5.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.682C>T	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.373698|4.373698	0.82573|0.82573	2.28E-4|2.28E-4	0.0|0.0	ENSG00000013364|ENSG00000013364	ENST00000452209|ENST00000357402;ENST00000395353	.|T;T	.|0.36157	.|1.27;1.27	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63117|0.63117	0.2484|0.2484	M|M	0.82323|0.82323	2.585|2.585	0.29754|0.29754	N|N	0.836053|0.836053	.|D	.|0.76494	.|0.999	.|D	.|0.67103	.|0.949	T|T	0.64643|0.64643	-0.6359|-0.6359	6|10	0.87932|0.62326	D|D	0|0.03	-23.5517|-23.5517	17.1743|17.1743	0.86837|0.86837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|228	.|Q14764	.|MVP_HUMAN	V|Y	42|228	.|ENSP00000349977:H228Y;ENSP00000378760:H228Y	ENSP00000387916:A42V|ENSP00000349977:H228Y	A|H	+|+	2|1	0|0	MVP|MVP	29755553|29755553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.068000|6.068000	0.71201|0.71201	2.717000|2.717000	0.92951|0.92951	0.462000|0.462000	0.41574|0.41574	GCA|CAC		0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		4	46	0	0	0	0	4	46				
SRCAP	10847	broad.mit.edu	37	16	30750152	30750152	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:30750152C>T	ENST00000262518.4	+	34	9176	c.8791C>T	c.(8791-8793)Ctg>Ttg	p.L2931L	SRCAP_ENST00000395059.2_Silent_p.L2869L|SRCAP_ENST00000344771.4_Silent_p.L2773L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2931	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAATCCCCTCCTGTCACCTGT	0.572																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(8791-8793)CTG>TTG		Snf2-related CBP activator protein							98.0	98.0	98.0					16																	30750152		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750152C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8791C>T	16.37:g.30750152C>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L2726L	p.L2931L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9176	+			2931			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8791C>T	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		12	79	0	0	0	0	12	79				
ACD	65057	broad.mit.edu	37	16	67693460	67693460	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:67693460G>A	ENST00000393919.4	-	4	915	c.651C>T	c.(649-651)ccC>ccT	p.P217P	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Silent_p.P214P|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	217					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGTAGCCGGGGCTGCTCCG	0.677																																						uc002etq.3		NA																	0				pancreas(1)	1						c.(649-651)CCC>CCT		adrenocortical dysplasia homolog isoform 1							24.0	32.0	29.0					16																	67693460		2198	4299	6497	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693460G>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.651C>T	16.37:g.67693460G>A						ACD_uc002etp.3_Silent_p.P214P|ACD_uc002etr.3_Silent_p.P214P|ACD_uc010vjt.1_Missense_Mutation_p.P237S|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.P217P	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	988	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	217					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.651C>T	CCDS42181.1																																																																																				0.677	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		4	48	0	0	0	0	4	48				
NLRP1	22861	broad.mit.edu	37	17	5486116	5486116	+	Missense_Mutation	SNP	G	G	C	rs141118572		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:5486116G>C	ENST00000572272.1	-	2	321	c.322C>G	c.(322-324)Ccc>Gcc	p.P108A	NLRP1_ENST00000345221.3_Missense_Mutation_p.P108A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P108A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P108A|NLRP1_ENST00000262467.5_Missense_Mutation_p.P108A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.P108A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	108					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGGCTGGGAGACCCCAGG	0.602																																						uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(322-324)CCC>GCC		NLR family, pyrin domain containing 1 isoform 1		G	ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO,ALA/PRO	1,4405		0,1,2202	45.0	43.0	44.0		322,322,322,322,322	1.8	0.0	17	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	27,27,27,27,27	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	108/1376,108/1430,108/1474,108/1444,108/1400	5486116	1,13005	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5486116G>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.322C>G	17.37:g.5486116G>C	ENSP00000460475:p.Pro108Ala					NLRP1_uc002gcg.1_Missense_Mutation_p.P108A|NLRP1_uc002gck.2_Missense_Mutation_p.P108A|NLRP1_uc002gcj.2_Missense_Mutation_p.P108A|NLRP1_uc002gcl.2_Missense_Mutation_p.P108A|NLRP1_uc002gch.3_Missense_Mutation_p.P108A|NLRP1_uc010clh.2_Missense_Mutation_p.P108A	p.P108A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			2	877	-		Colorectal(1115;3.48e-05)	108					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.322C>G	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120159	0.20877	2.27E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.70986	-0.53;-0.53;-0.51;-0.49;-0.51	2.76	1.79	0.24919	.	.	.	.	.	T	0.55321	0.1913	L	0.27053	0.805	0.09310	N	1	P;P;P;P;P	0.46064	0.872;0.872;0.798;0.872;0.798	B;B;B;B;B	0.42692	0.395;0.395;0.221;0.395;0.221	T	0.43718	-0.9374	9	0.41790	T	0.15	.	5.717	0.17966	0.1528:0.0:0.8472:0.0	.	108;108;108;108;108	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	A	108	ENSP00000442029:P108A;ENSP00000262467:P108A;ENSP00000269280:P108A;ENSP00000346390:P108A;ENSP00000324366:P108A	ENSP00000262467:P108A	P	-	1	0	NLRP1	5426840	0.014000	0.17966	0.001000	0.08648	0.043000	0.13939	1.001000	0.29783	0.718000	0.32166	0.555000	0.69702	CCC		0.602	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		9	37	0	0	0	0	9	37				
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T	rs267605076		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:7578177C>T	ENST00000269305.4	-	6	861	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000420246.2_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000359597.4_Splice_Site_p.E224E	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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		61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(670-672)GAG>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	76.0	78.0					17																	7578177		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578177C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>A	17.37:g.7578177C>T		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_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E	p.E224E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	224		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (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	Silent	SNP	ENST00000269305.4	37	c.672G>A	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	4	24	0	0	0	0	4	24				
CNTROB	116840	broad.mit.edu	37	17	7842957	7842957	+	Missense_Mutation	SNP	C	C	T	rs141146363	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:7842957C>T	ENST00000563694.1	+	8	1979	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CNTROB_ENST00000380255.3_Missense_Mutation_p.R352W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R352W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R352W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	352					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGACTCTTCGGGCTGCCCT	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		18219	0.005		0.0	False		,,,				2504	0.0					uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1054-1056)CGG>TGG		centrobin, centrosomal BRCA2 interacting protein		C	TRP/ARG,TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	66.0	63.0	64.0		1054,1054	4.3	0.0	17	dbSNP_134	64	0,8600		0,0,4300	yes	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	101,101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging	352/926,352/904	7842957	3,13003	2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842957C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1054C>T	17.37:g.7842957C>T	ENSP00000456335:p.Arg352Trp					CNTROB_uc002gjp.2_Missense_Mutation_p.R352W|CNTROB_uc002gjr.2_Missense_Mutation_p.R254W|CNTROB_uc010vum.1_Missense_Mutation_p.R64W	p.R352W	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			9	1973	+		Prostate(122;0.173)	352			Potential.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1054C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977264	0.34848	6.81E-4	0.0	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.47528	1.06;0.84	5.26	4.28	0.50868	.	0.261285	0.27227	N	0.020325	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	P;P;D;P	0.54772	0.85;0.894;0.968;0.688	B;B;B;B	0.36186	0.052;0.219;0.219;0.022	T	0.10683	-1.0619	10	0.72032	D	0.01	-10.9153	11.9748	0.53085	0.3332:0.6668:0.0:0.0	.	352;352;352;352	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	352	ENSP00000369614:R352W;ENSP00000369605:R352W	ENSP00000369605:R352W	R	+	1	2	CNTROB	7783682	0.073000	0.21202	0.035000	0.18076	0.123000	0.20343	1.464000	0.35288	1.186000	0.42985	0.313000	0.20887	CGG		0.612	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		18	62	0	0	0	0	18	62				
ACACA	31	broad.mit.edu	37	17	35591984	35591984	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:35591984C>T	ENST00000394406.2	-	25	3231	c.3041G>A	c.(3040-3042)cGa>cAa	p.R1014Q	ACACA_ENST00000360679.3_Missense_Mutation_p.R956Q|ACACA_ENST00000353139.5_Missense_Mutation_p.R1051Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R936Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1014					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTCTCTTCTCGGAGGGCGAA	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3040-3042)CGA>CAA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						196.0	161.0	173.0					17																	35591984		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591984C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3041G>A	17.37:g.35591984C>T	ENSP00000377928:p.Arg1014Gln					ACACA_uc002hnk.2_Missense_Mutation_p.R936Q|ACACA_uc002hnl.2_Missense_Mutation_p.R956Q|ACACA_uc002hnn.2_Missense_Mutation_p.R1014Q|ACACA_uc002hno.2_Missense_Mutation_p.R1051Q|ACACA_uc010cuz.2_Missense_Mutation_p.R1014Q	p.R1014Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN			25	3232	-		Breast(25;0.00157)|Ovarian(249;0.15)	1014					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3041G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189406	0.94923	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.66	4.68	0.58851	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	M	0.87900	2.915	0.80722	D	1	D;B;B	0.61080	0.989;0.253;0.096	P;B;B	0.59761	0.863;0.059;0.035	T	0.81955	-0.0696	10	0.72032	D	0.01	-2.5059	15.6886	0.77430	0.0:0.8628:0.1372:0.0	.	1051;1014;956	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	1051;956;1014;1038;936	ENSP00000344789:R1051Q;ENSP00000353898:R956Q;ENSP00000377928:R1014Q;ENSP00000335323:R936Q	ENSP00000335323:R936Q	R	-	2	0	ACACA	32666097	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.770000	0.85390	1.392000	0.46585	0.655000	0.94253	CGA		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		11	49	0	0	0	0	11	49				
KRT38	8687	broad.mit.edu	37	17	39594347	39594347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:39594347G>T	ENST00000246646.3	-	6	1238	c.1239C>A	c.(1237-1239)tgC>tgA	p.C413*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	413	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACACGTACTTGCAGTCCTCGC	0.527																																						uc002hwq.1		NA																	0				skin(2)	2						c.(1237-1239)TGC>TGA		keratin 38							90.0	84.0	86.0					17																	39594347		2203	4300	6503	SO:0001587	stop_gained	8687					intermediate filament	structural molecule activity	g.chr17:39594347G>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1239C>A	17.37:g.39594347G>T	ENSP00000246646:p.Cys413*						p.C413*	NM_006771	NP_006762	O76015	KRT38_HUMAN			6	1662	-		Breast(137;0.000496)	413			Tail.		A2RRM5|Q6A164	Nonsense_Mutation	SNP	ENST00000246646.3	37	c.1239C>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.735972	0.89482	.	.	ENSG00000171360	ENST00000246646	.	.	.	4.63	4.63	0.57726	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2805	0.43537	0.0902:0.0:0.9098:0.0	.	.	.	.	X	413	.	ENSP00000246646:C413X	C	-	3	2	KRT38	36847873	0.904000	0.30761	1.000000	0.80357	0.871000	0.50021	1.316000	0.33620	2.418000	0.82041	0.655000	0.94253	TGC		0.527	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		8	54	1	0	0.000157383	0.000171931	8	54				
NAGS	162417	broad.mit.edu	37	17	42083545	42083545	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:42083545G>A	ENST00000293404.3	+	3	973	c.855G>A	c.(853-855)ctG>ctA	p.L285L	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	285	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAAGGCGCTGCGGCCCACCA	0.667																																						uc002ies.2		NA																	0					0						c.(853-855)CTG>CTA		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						28.0	29.0	28.0					17																	42083545		2200	4297	6497	SO:0001819	synonymous_variant	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42083545G>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.855G>A	17.37:g.42083545G>A						PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Silent_p.L285L|NAGS_uc002iet.2_5'UTR	p.L285L	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	855	+		Breast(137;0.00536)|Prostate(33;0.0724)	285					B2RAZ9|Q8IWR4	Silent	SNP	ENST00000293404.3	37	c.855G>A	CCDS11473.1																																																																																				0.667	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		11	38	0	0	0	0	11	38				
METTL2A	339175	broad.mit.edu	37	17	60501347	60501347	+	Silent	SNP	G	G	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr17:60501347G>T	ENST00000311506.5	+	1	120	c.84G>T	c.(82-84)ccG>ccT	p.P28P		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	28					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGAGAGATCCGGCGCGCGTCT	0.647											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002izv.2		NA																	0					0						c.(82-84)CCG>CCT		methyltransferase like 2A							67.0	80.0	76.0					17																	60501347		692	1591	2283	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60501347G>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.84G>T	17.37:g.60501347G>T			OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1046	METTL2A_uc002izw.2_5'UTR	p.P28P	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		1	102	+			28					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.84G>T	CCDS45752.1																																																																																				0.647	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		7	45	1	0	0.000157383	0.000171931	7	45				
LAMA3	3909	broad.mit.edu	37	18	21330961	21330961	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:21330961C>T	ENST00000313654.9	+	5	1005	c.764C>T	c.(763-765)gCa>gTa	p.A255V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A255V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	255	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTACCAAGGCAACAAACATC	0.473																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(763-765)GCA>GTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	117.0	118.0					18																	21330961		1887	4112	5999	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330961C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.764C>T	18.37:g.21330961C>T	ENSP00000324532:p.Ala255Val					LAMA3_uc010dlv.1_Missense_Mutation_p.A255V|LAMA3_uc002kur.2_Missense_Mutation_p.A255V	p.A255V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			5	850	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		255			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.764C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614515	0.96649	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000538801	T;T	0.76060	-0.99;-0.99	5.64	5.64	0.86602	Laminin, N-terminal (3);	.	.	.	.	D	0.85923	0.5810	M	0.76838	2.35	0.80722	D	1	D;D;P	0.64830	0.994;0.957;0.946	P;P;P	0.61533	0.886;0.89;0.809	D	0.87152	0.2209	9	0.87932	D	0	.	19.7075	0.96079	0.0:1.0:0.0:0.0	.	255;255;255	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	V	255	ENSP00000324532:A255V;ENSP00000382432:A255V	ENSP00000324532:A255V	A	+	2	0	LAMA3	19584959	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	5.743000	0.68655	2.643000	0.89663	0.655000	0.94253	GCA		0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		33	85	0	0	0	0	33	85				
ASXL3	80816	broad.mit.edu	37	18	31319491	31319491	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:31319491C>G	ENST00000269197.5	+	11	2123	c.2123C>G	c.(2122-2124)tCc>tGc	p.S708C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	708	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCACCAGTATCCAACTTACCT	0.393																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2122-2124)TCC>TGC		additional sex combs like 3							240.0	237.0	238.0					18																	31319491		1932	4145	6077	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319491C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2123C>G	18.37:g.31319491C>G	ENSP00000269197:p.Ser708Cys					ASXL3_uc002kxq.2_Missense_Mutation_p.S415C	p.S708C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2178	+			708			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2123C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351046	0.61183	.	.	ENSG00000141431	ENST00000269197	T	0.24538	1.85	6.03	6.03	0.97812	.	0.079174	0.56097	D	0.000030	T	0.54565	0.1866	M	0.71036	2.16	0.47778	D	0.999518	D	0.89917	1.0	D	0.85130	0.997	T	0.52487	-0.8569	10	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	708	Q9C0F0	ASXL3_HUMAN	C	708	ENSP00000269197:S708C	ENSP00000269197:S708C	S	+	2	0	ASXL3	29573489	1.000000	0.71417	0.994000	0.49952	0.880000	0.50808	5.114000	0.64648	2.868000	0.98415	0.557000	0.71058	TCC		0.393	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			37	204	0	0	0	0	37	204				
WDR7	23335	broad.mit.edu	37	18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(3688-3690)GCC>GTC		rabconnectin-3 beta isoform 1							206.0	187.0	193.0					18																	54591315		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591315C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3689C>T	18.37:g.54591315C>T	ENSP00000254442:p.Ala1230Val					WDR7_uc002lgl.1_Missense_Mutation_p.A1197V	p.A1230V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3900	+			1230					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3689C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362697	0.82353	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.67171	-0.25;1.47	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.42245	1.32	0.58432	D	0.999991	P;P	0.44627	0.839;0.751	P;B	0.46172	0.506;0.309	T	0.68108	-0.5496	10	0.52906	T	0.07	.	15.7022	0.77549	0.0:0.8624:0.1376:0.0	.	1197;1230	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1230;1197;555;1197	ENSP00000254442:A1230V;ENSP00000350187:A1197V	ENSP00000254442:A1230V	A	+	2	0	WDR7	52742313	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.489000	0.81451	1.256000	0.44068	0.591000	0.81541	GCC		0.438	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	135	0	0	0	0	4	135				
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	C	A	rs547807971	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:9066782C>A	ENST00000397910.4	-	3	20867	c.20664G>T	c.(20662-20664)gcG>gcT	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACATTAGTCGCTGCTGTGC	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20662-20664)GCG>GCT		mucin 16							240.0	228.0	232.0					19																	9066782		2122	4247	6369	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066782C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20664G>T	19.37:g.9066782C>A							p.A6888A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20868	-			6890			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20664G>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	177	1	0	6.53e-20	7.72e-20	37	177				
TSHZ3	57616	broad.mit.edu	37	19	31769049	31769049	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:31769049G>A	ENST00000240587.4	-	2	1977	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	550					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCGGCATGGATGCTGGGAT	0.552																																						uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1648-1650)ATC>ATT		zinc finger protein 537							120.0	120.0	120.0					19																	31769049		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769049G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1650C>T	19.37:g.31769049G>A							p.I550I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1715	-	Esophageal squamous(110;0.226)		550					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1650C>T	CCDS12421.2																																																																																				0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		12	130	0	0	0	0	12	130				
TMEM145	284339	broad.mit.edu	37	19	42818774	42818774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:42818774G>A	ENST00000301204.3	+	4	324	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	TMEM145_ENST00000598766.1_Missense_Mutation_p.A105T|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	95					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGACTGCCTGGCCAAGGAGTC	0.642																																						uc002otk.1		NA																	0					0						c.(283-285)GCC>ACC		transmembrane protein 145							105.0	107.0	107.0					19																	42818774		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42818774G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.283G>A	19.37:g.42818774G>A	ENSP00000301204:p.Ala95Thr						p.A95T	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			4	335	+		Prostate(69;0.00682)	95						Missense_Mutation	SNP	ENST00000301204.3	37	c.283G>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.128836	0.37533	.	.	ENSG00000167619	ENST00000301204	T	0.43688	0.94	4.9	3.87	0.44632	.	0.307447	0.31531	N	0.007494	T	0.25901	0.0631	N	0.25647	0.755	0.30901	N	0.729306	B	0.25105	0.118	B	0.19666	0.026	T	0.17107	-1.0380	10	0.24483	T	0.36	-22.5638	7.831	0.29342	0.1899:0.0:0.8101:0.0	.	95	Q8NBT3	TM145_HUMAN	T	95	ENSP00000301204:A95T	ENSP00000301204:A95T	A	+	1	0	TMEM145	47510614	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.653000	0.46691	1.225000	0.43566	0.557000	0.71058	GCC		0.642	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		14	131	0	0	0	0	14	131				
C5AR1	728	broad.mit.edu	37	19	47823557	47823557	+	Missense_Mutation	SNP	C	C	T	rs141160351	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:47823557C>T	ENST00000355085.3	+	2	545	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	175					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTTCCTGTACCGGGTGGTCCG	0.632																																						uc002pgj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(523-525)CGG>TGG		complement component 5 receptor 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	79.0	79.0		523	5.0	0.1	19	dbSNP_134	79	0,8600		0,0,4300	no	missense	C5AR1	NM_001736.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	175/351	47823557	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823557C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.523C>T	19.37:g.47823557C>T	ENSP00000347197:p.Arg175Trp						p.R175W	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	572	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	175			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355085.3	37	c.523C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	c	16.03	3.008050	0.54361	2.27E-4	0.0	ENSG00000197405	ENST00000355085	T	0.35789	1.29	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.477230	0.21674	U	0.070840	T	0.60971	0.2310	M	0.81802	2.56	0.46981	D	0.999278	D	0.89917	1.0	D	0.91635	0.999	T	0.65446	-0.6166	10	0.87932	D	0	.	12.1462	0.54024	0.1715:0.8285:0.0:0.0	.	175	P21730	C5AR_HUMAN	W	175	ENSP00000347197:R175W	ENSP00000347197:R175W	R	+	1	2	C5AR1	52515397	0.732000	0.28121	0.088000	0.20740	0.356000	0.29392	1.182000	0.32029	2.280000	0.76307	0.472000	0.43445	CGG		0.632	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		29	133	0	0	0	0	29	133				
ZNF649	65251	broad.mit.edu	37	19	52394087	52394087	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:52394087C>A	ENST00000354957.3	-	5	1586	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	ZNF577_ENST00000301399.5_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.E406D|ZNF577_ENST00000420592.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTCTCACACTCATCACAGC	0.438																																						uc002pxy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1300-1302)GAG>GAT		zinc finger protein 649							157.0	154.0	155.0					19																	52394087		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394087C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1302G>T	19.37:g.52394087C>A	ENSP00000347043:p.Glu434Asp					ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_RNA	p.E434D	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1570	-		all_neural(266;0.0602)	434			C2H2-type 10.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1302G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	5.243	0.230299	0.09969	.	.	ENSG00000198093	ENST00000354957	T	0.07444	3.19	2.63	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.49778	1.585	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.39396	-0.9616	9	0.42905	T	0.14	.	4.2261	0.10580	0.0:0.3495:0.3248:0.3258	.	434	Q9BS31	ZN649_HUMAN	D	434	ENSP00000347043:E434D	ENSP00000347043:E434D	E	-	3	2	ZNF649	57085899	0.000000	0.05858	0.095000	0.20976	0.337000	0.28794	-9.771000	0.00009	-0.430000	0.07318	0.404000	0.27445	GAG		0.438	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		27	145	1	0	3.01e-09	3.48e-09	27	145				
ZNF761	388561	broad.mit.edu	37	19	53958193	53958193	+	RNA	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:53958193T>C	ENST00000454407.1	+	0	885							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GATCAAGCTTTCATTCGCATC	0.393																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(430-432)TTT>TTC		zinc finger protein 761							112.0	112.0	112.0					19																	53958193		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958193T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958193T>C						ZNF761_uc010ydy.1_Silent_p.F90F|ZNF761_uc002qbt.1_Silent_p.F90F	p.F144F	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	890	+			144					Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.432T>C																																																																																					0.393	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		17	108	0	0	0	0	17	108				
KIR3DL2	3812	broad.mit.edu	37	19	55378185	55378185	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:55378185A>G	ENST00000326321.3	+	9	1400	c.1367A>G	c.(1366-1368)tAg>tGg	p.*456W	RNU6-222P_ENST00000362438.1_RNA|KIR3DL2_ENST00000270442.5_Nonstop_Mutation_p.*439W|KIR3DL1_ENST00000402254.2_Nonstop_Mutation_p.*456W	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	0					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGGGTTTTCTAGGGAGACAAC	0.527																																						uc002qhl.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1366-1368)TAG>TGG		SubName: Full=KIR3DS1;							141.0	144.0	143.0					19																	55378185		2203	4300	6503	SO:0001578	stop_lost	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55378185A>G	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1367A>G	19.37:g.55378185A>G	ENSP00000325525:p.*456Trpext*15					KIR3DL2_uc010esh.2_Nonstop_Mutation_p.*439W|KIR3DL2_uc002qho.3_Nonstop_Mutation_p.*456W	p.*456W			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1430	+			456					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Nonstop_Mutation	SNP	ENST00000326321.3	37	c.1367A>G	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.292034	0.01375	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	.	.	.	0.879	-0.388	0.12459	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5505	0.07844	0.5771:0.4229:0.0:0.0	.	.	.	.	W	456;456;439	.	.	X	+	2	0	KIR3DL1;KIR3DL2	60069997	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.348000	0.07740	-0.184000	0.10567	0.324000	0.21423	TAG		0.527	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			3	180	0	0	0	0	3	180				
ZNF471	57573	broad.mit.edu	37	19	57037304	57037304	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:57037304G>C	ENST00000308031.5	+	5	2001	c.1868G>C	c.(1867-1869)gGa>gCa	p.G623A	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTCATACTGGAGAAGAACCT	0.403																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1867-1869)GGA>GCA		zinc finger protein 471							71.0	73.0	72.0					19																	57037304		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037304G>C	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1868G>C	19.37:g.57037304G>C	ENSP00000309161:p.Gly623Ala						p.G623A	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	2001	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	623					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1868G>C	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399293	0.25291	.	.	ENSG00000196263	ENST00000308031	T	0.02103	4.45	3.9	3.9	0.45041	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.81614	2.55	0.33542	D	0.595007	B	0.19935	0.04	B	0.10450	0.005	T	0.01136	-1.1440	9	0.87932	D	0	.	13.4163	0.60970	0.0:0.0:1.0:0.0	.	623	Q9BX82	ZN471_HUMAN	A	623	ENSP00000309161:G623A	ENSP00000309161:G623A	G	+	2	0	ZNF471	61729116	0.107000	0.21998	0.015000	0.15790	0.010000	0.07245	2.020000	0.41010	2.005000	0.58758	0.462000	0.41574	GGA		0.403	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		9	45	0	0	0	0	9	45				
ZNF548	147694	broad.mit.edu	37	19	57911175	57911175	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr19:57911175C>G	ENST00000366197.5	+	3	1770	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	ZNF548_ENST00000336128.7_Missense_Mutation_p.S519C|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTGTGTGCTCCATGAATGTG	0.408																																						uc002qom.2		NA																	0				breast(1)	1						c.(1519-1521)TCC>TGC		zinc finger protein 548							65.0	64.0	64.0					19																	57911175		1968	4203	6171	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57911175C>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1520C>G	19.37:g.57911175C>G	ENSP00000379482:p.Ser507Cys					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S510C	p.S507C	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1770	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	507					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1520C>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	0.229	-1.022668	0.02061	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05996	3.36;3.39	2.71	0.47	0.16747	.	.	.	.	.	T	0.01592	0.0051	N	0.01352	-0.895	0.09310	N	1	P;P	0.49447	0.924;0.875	B;B	0.40982	0.345;0.187	T	0.17868	-1.0355	9	0.02654	T	1	.	4.1644	0.10300	0.0:0.5643:0.1981:0.2377	.	519;507	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	C	519;507	ENSP00000337555:S519C;ENSP00000379482:S507C	ENSP00000337555:S519C	S	+	2	0	ZNF548	62602987	0.111000	0.22076	0.000000	0.03702	0.659000	0.38960	0.937000	0.28951	0.208000	0.20626	0.655000	0.94253	TCC		0.408	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		9	44	0	0	0	0	9	44				
DPYSL5	56896	broad.mit.edu	37	2	27121505	27121505	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:27121505C>T	ENST00000288699.6	+	2	296	c.138C>T	c.(136-138)ggC>ggT	p.G46G	DPYSL5_ENST00000401478.1_Silent_p.G46G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G46G(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCCTGGCGGGGCCAAGG	0.592																																						uc002rhu.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)	2						c.(136-138)GGC>GGT		dihydropyrimidinase-like 5							97.0	82.0	87.0					2																	27121505		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121505C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.138C>T	2.37:g.27121505C>T						DPYSL5_uc002rhv.3_Silent_p.G46G	p.G46G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			2	296	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		46					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.138C>T	CCDS1730.1																																																																																				0.592	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		14	57	0	0	0	0	14	57				
CCDC85A	114800	broad.mit.edu	37	2	56420319	56420319	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:56420319C>T	ENST00000407595.2	+	2	1486	c.984C>T	c.(982-984)caC>caT	p.H328H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	328	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCCTGAACACGCCAGGCACA	0.662																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(982-984)CAC>CAT		coiled-coil domain containing 85A							57.0	67.0	63.0					2																	56420319		2044	4189	6233	SO:0001819	synonymous_variant	114800							g.chr2:56420319C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.984C>T	2.37:g.56420319C>T							p.H328H	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1486	+			328			His-rich.			Silent	SNP	ENST00000407595.2	37	c.984C>T	CCDS46290.1																																																																																				0.662	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			11	112	0	0	0	0	11	112				
POLR1B	84172	broad.mit.edu	37	2	113331325	113331325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:113331325C>T	ENST00000263331.5	+	14	3038	c.2458C>T	c.(2458-2460)Cag>Tag	p.Q820*	POLR1B_ENST00000537335.1_Nonsense_Mutation_p.Q609*|POLR1B_ENST00000417433.2_Nonsense_Mutation_p.Q764*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.Q637*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.Q858*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	820					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGCAAAACTGCAGTACGGAGA	0.448																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	0				ovary(1)	1						c.(2458-2460)CAG>TAG		RNA polymerase I polypeptide B isoform 1							148.0	153.0	151.0					2																	113331325		2203	4300	6503	SO:0001587	stop_gained	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113331325C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2458C>T	2.37:g.113331325C>T	ENSP00000263331:p.Gln820*					POLR1B_uc010fkn.2_Nonsense_Mutation_p.Q764*|POLR1B_uc002thx.2_Nonsense_Mutation_p.Q681*|POLR1B_uc010fko.2_Nonsense_Mutation_p.Q637*|POLR1B_uc010fkp.2_Nonsense_Mutation_p.Q259*|POLR1B_uc010yxn.1_Nonsense_Mutation_p.Q858*|POLR1B_uc002thy.2_Nonsense_Mutation_p.Q681*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.Q597*	p.Q820*	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			14	3038	+			820					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Nonsense_Mutation	SNP	ENST00000263331.5	37	c.2458C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630984	0.98399	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	.	.	.	5.7	1.24	0.21308	.	0.459883	0.26620	N	0.023370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.8999	11.504	0.50454	0.3456:0.5467:0.1078:0.0	.	.	.	.	X	820;858;637;609;764;205;179	.	ENSP00000263331:Q820X	Q	+	1	0	POLR1B	113047796	0.633000	0.27181	0.120000	0.21714	0.979000	0.70002	1.135000	0.31454	0.302000	0.22762	0.555000	0.69702	CAG		0.448	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		19	105	0	0	0	0	19	105				
CPO	130749	broad.mit.edu	37	2	207824389	207824389	+	Missense_Mutation	SNP	G	G	A	rs371902561		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:207824389G>A	ENST00000272852.3	+	5	453	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TCAAGTATACGCAAGCTCCTT	0.353																																						uc002vby.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(406-408)CGC>CAC		carboxypeptidase O precursor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	128.0	129.0		407	-1.0	0.0	2		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPO	NM_173077.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	136/375	207824389	2,13004	2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207824389G>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.407G>A	2.37:g.207824389G>A	ENSP00000272852:p.Arg136His						p.R136H	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	5	453	+			136					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.407G>A	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	3.861	-0.029903	0.07543	2.27E-4	1.16E-4	ENSG00000144410	ENST00000272852	T	0.11385	2.78	5.03	-1.0	0.10196	Peptidase M14, carboxypeptidase A (2);	0.831951	0.11639	N	0.544001	T	0.11707	0.0285	M	0.72624	2.21	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.27872	-1.0061	10	0.49607	T	0.09	.	5.1261	0.14886	0.4759:0.0:0.3841:0.14	.	136	Q8IVL8	CBPO_HUMAN	H	136	ENSP00000272852:R136H	ENSP00000272852:R136H	R	+	2	0	CPO	207532634	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.328000	0.19681	-0.413000	0.07507	-1.020000	0.02445	CGC		0.353	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		4	46	0	0	0	0	4	46				
ERBB4	2066	broad.mit.edu	37	2	212495211	212495211	+	Silent	SNP	G	G	A	rs541175676		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:212495211G>A	ENST00000342788.4	-	17	2365	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ERBB4_ENST00000436443.1_Silent_p.A685A|ERBB4_ENST00000402597.1_Silent_p.A675A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	685					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATCTTCTCAAGGCTCTTTTCT	0.393										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2053-2055)GCC>GCT		v-erb-a erythroblastic leukemia viral oncogene							130.0	141.0	137.0					2																	212495211		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212495211G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2055C>T	2.37:g.212495211G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.A685A|ERBB4_uc010zji.1_Silent_p.A675A|ERBB4_uc010zjj.1_Silent_p.A675A|ERBB4_uc010fut.1_Silent_p.A685A	p.A685A	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	17	2153	-		Renal(323;0.06)|Lung NSC(271;0.197)	685			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.2055C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236977	0.22711	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.86	0.583	0.17417	.	.	.	.	.	T	0.40522	0.1120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	.	0.767	0.01017	0.2649:0.1088:0.2948:0.3316	.	.	.	.	L	675	.	.	P	-	2	0	ERBB4	212203456	0.240000	0.23847	1.000000	0.80357	0.997000	0.91878	-0.103000	0.10940	0.339000	0.23719	0.585000	0.79938	CCT		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		14	80	0	0	0	0	14	80				
TNS1	7145	broad.mit.edu	37	2	218713727	218713727	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:218713727C>T	ENST00000171887.4	-	17	1590	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	TNS1_ENST00000430930.1_Missense_Mutation_p.G380R|TNS1_ENST00000419504.1_Missense_Mutation_p.G380R|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	380					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTAACAGCCCCGGTGCTGCCG	0.607																																						uc002vgt.2		NA																	0				ovary(3)|breast(1)	4						c.(1138-1140)GGG>AGG		tensin							159.0	153.0	155.0					2																	218713727		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713727C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1138G>A	2.37:g.218713727C>T	ENSP00000171887:p.Gly380Arg					TNS1_uc002vgr.2_Missense_Mutation_p.G380R|TNS1_uc002vgs.2_Missense_Mutation_p.G380R|TNS1_uc010zjv.1_Missense_Mutation_p.G380R|TNS1_uc010fvj.1_Missense_Mutation_p.G448R|TNS1_uc010fvk.1_Missense_Mutation_p.G505R|TNS1_uc010fvi.1_Missense_Mutation_p.G67R	p.G380R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1536	-		Renal(207;0.0483)|Lung NSC(271;0.213)	380					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1138G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362609	0.41902	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.96011	-3.05;-3.05;-3.05;-3.51;-3.88	5.17	5.17	0.71159	.	0.471163	0.24580	N	0.037320	D	0.96482	0.8852	L	0.54323	1.7	0.80722	D	1	D;P;P;D;D	0.89917	1.0;0.757;0.924;1.0;1.0	D;B;B;P;P	0.74348	0.983;0.128;0.144;0.88;0.88	D	0.96092	0.9062	10	0.66056	D	0.02	.	12.2059	0.54353	0.0:0.9223:0.0:0.0776	.	380;434;380;380;380	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	R	380;380;380;505;448	ENSP00000171887:G380R;ENSP00000408724:G380R;ENSP00000406016:G380R;ENSP00000405460:G505R;ENSP00000400383:G448R	ENSP00000171887:G380R	G	-	1	0	TNS1	218421972	0.858000	0.29795	0.518000	0.27811	0.866000	0.49608	1.243000	0.32767	2.684000	0.91462	0.655000	0.94253	GGG		0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		41	163	0	0	0	0	41	163				
C2orf83	56918	broad.mit.edu	37	2	228476326	228476326	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:228476326C>T	ENST00000264387.4	-	3	323	c.237G>A	c.(235-237)agG>agA	p.R79R	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	79					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CGGTAAGTTTCCTCATCCCTG	0.468																																						uc002vph.2		NA																	0					0						c.(235-237)AGG>AGA		hypothetical protein LOC56918 isoform 1							87.0	92.0	91.0					2																	228476326		2203	4300	6503	SO:0001819	synonymous_variant	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476326C>T		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.237G>A	2.37:g.228476326C>T						C2orf83_uc010zlu.1_3'UTR	p.R79R	NM_020161	NP_064546	Q53S99	CB083_HUMAN			3	472	-			79					A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	c.237G>A	CCDS33388.1																																																																																				0.468	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		18	65	0	0	0	0	18	65				
SP140L	93349	broad.mit.edu	37	2	231264899	231264899	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:231264899G>A	ENST00000415673.2	+	15	1341	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	SP140L_ENST00000396563.4_Missense_Mutation_p.D384N|SP140L_ENST00000243810.6_Missense_Mutation_p.D419N|SP140L_ENST00000444636.1_Missense_Mutation_p.D419N	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	419						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GTTCTGTTGCGACACTTGTTC	0.498																																						uc010fxm.1		NA																	0				central_nervous_system(1)	1						c.(1255-1257)GAC>AAC		SP140 nuclear body protein-like							182.0	188.0	186.0					2																	231264899		2100	4245	6345	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264899G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1255G>A	2.37:g.231264899G>A	ENSP00000397911:p.Asp419Asn					SP140L_uc010fxo.1_Missense_Mutation_p.D191N	p.D419N	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			15	1346	+			419			PHD-type; degenerate.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1255G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921021	0.33908	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	3.33	1.46	0.22682	.	.	.	.	.	D	0.95544	0.8552	H	0.95712	3.71	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.86479	0.1790	9	0.52906	T	0.07	.	3.9071	0.09186	0.1309:0.0:0.6329:0.2362	.	384;419	Q9H930-2;Q9H930-4	.;.	N	419;419;419;384	ENSP00000395195:D419N;ENSP00000397911:D419N;ENSP00000243810:D419N;ENSP00000379811:D384N	ENSP00000243810:D419N	D	+	1	0	SP140L	230973143	0.000000	0.05858	0.079000	0.20413	0.247000	0.25773	0.586000	0.23894	0.229000	0.21039	0.313000	0.20887	GAC		0.498	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		21	79	0	0	0	0	21	79				
KLHL30	377007	broad.mit.edu	37	2	239049729	239049729	+	Missense_Mutation	SNP	C	C	T	rs200853211	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr2:239049729C>T	ENST00000409223.1	+	2	441	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	KLHL30_ENST00000305959.4_Missense_Mutation_p.R94C			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	112										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CACGGCTGCGCGCCTGCACTT	0.667													C|||	13	0.00259585	0.0091	0.0	5008	,	,		16733	0.0		0.001	False		,,,				2504	0.0					uc002vxr.1		NA																	0					0						c.(280-282)CGC>TGC		kelch-like 30		C	CYS/ARG	28,4284		0,28,2128	38.0	46.0	44.0		334	4.9	0.7	2		44	0,8474		0,0,4237	yes	missense	KLHL30	NM_198582.3	180	0,28,6365	TT,TC,CC		0.0,0.6494,0.219	probably-damaging	112/579	239049729	28,12758	2156	4237	6393	SO:0001583	missense	377007							g.chr2:239049729C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.334C>T	2.37:g.239049729C>T	ENSP00000386389:p.Arg112Cys						p.R94C	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	1	313	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	112					Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.280C>T	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339402	0.60963	0.006494	0.0	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.72051	-0.62;-0.62	5.75	4.87	0.63330	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.146635	0.48767	D	0.000161	T	0.76681	0.4021	M	0.72479	2.2	0.48696	D	0.999695	D	0.89917	1.0	P	0.62885	0.908	T	0.82208	-0.0571	10	0.87932	D	0	.	15.0085	0.71530	0.1439:0.8561:0.0:0.0	.	112	Q0D2K2	KLH30_HUMAN	C	112;94	ENSP00000386389:R112C;ENSP00000302386:R94C	ENSP00000302386:R94C	R	+	1	0	KLHL30	238714468	1.000000	0.71417	0.726000	0.30738	0.276000	0.26787	5.961000	0.70356	1.412000	0.46977	0.655000	0.94253	CGC		0.667	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		18	81	0	0	0	0	18	81				
PREX1	57580	broad.mit.edu	37	20	47296246	47296246	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr20:47296246G>A	ENST00000371941.3	-	12	1504	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	PREX1_ENST00000396220.1_Silent_p.F494F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	494	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTCGTAGCGGAAGCGATACA	0.612																																						uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(1480-1482)TTC>TTT		phosphatidylinositol-3,4,							180.0	137.0	151.0					20																	47296246		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47296246G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1482C>T	20.37:g.47296246G>A							p.F494F	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		12	1505	-			494			DEP 1.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1482C>T	CCDS13410.1																																																																																				0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		16	95	0	0	0	0	16	95				
PTGIS	5740	broad.mit.edu	37	20	48130868	48130868	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr20:48130868G>A	ENST00000244043.4	-	7	949	c.920C>T	c.(919-921)gCt>gTt	p.A307V	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	307					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCGGACAGCAGCCAGGGCTTC	0.577																																						uc002xut.2		NA																	0		p.A307S(1)		skin(2)|ovary(1)	3						c.(919-921)GCT>GTT		prostaglandin I2 synthase	Phenylbutazone(DB00812)						53.0	49.0	50.0					20																	48130868		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48130868G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.920C>T	20.37:g.48130868G>A	ENSP00000244043:p.Ala307Val					PTGIS_uc010zyi.1_Missense_Mutation_p.A168V	p.A307V	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		7	974	-			307					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.920C>T	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689198	0.29962	.	.	ENSG00000124212	ENST00000244043	T	0.01430	4.9	4.1	3.13	0.36017	.	0.327620	0.27640	N	0.018461	T	0.01800	0.0057	L	0.60957	1.885	0.38186	D	0.939775	P	0.50066	0.931	B	0.35510	0.204	T	0.60994	-0.7152	10	0.62326	D	0.03	-17.051	11.2931	0.49263	0.0:0.0:0.817:0.183	.	307	Q16647	PTGIS_HUMAN	V	307	ENSP00000244043:A307V	ENSP00000244043:A307V	A	-	2	0	PTGIS	47564275	0.187000	0.23238	0.694000	0.30210	0.700000	0.40528	0.849000	0.27723	0.813000	0.34350	0.561000	0.74099	GCT		0.577	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			8	57	0	0	0	0	8	57				
PRDM15	63977	broad.mit.edu	37	21	43287419	43287419	+	Silent	SNP	C	C	T	rs137957423		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr21:43287419C>T	ENST00000269844.3	-	5	719	c.609G>A	c.(607-609)gcG>gcA	p.A203A	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCCTCCGTTCGCAATCTTCC	0.532																																						uc002yzq.1		NA																	0					0						c.(607-609)GCG>GCA		PR domain containing 15 isoform 1		C	,	1,4405	2.1+/-5.4	0,1,2202	114.0	115.0	115.0		,609	0.9	0.0	21	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	,203/1508	43287419	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43287419C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.609G>A	21.37:g.43287419C>T						PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	p.A203A	NM_022115	NP_071398	P57071	PRD15_HUMAN			5	720	-			203					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.609G>A	CCDS13676.1																																																																																				0.532	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		20	119	0	0	0	0	20	119				
PLA2G3	50487	broad.mit.edu	37	22	31535944	31535944	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:31535944C>T	ENST00000215885.3	-	1	649	c.397G>A	c.(397-399)Gca>Aca	p.A133T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	133					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCCCTGCTGCTCGCTTCTTC	0.632																																						uc003aka.2		NA																	0					0						c.(397-399)GCA>ACA		phospholipase A2, group III precursor							81.0	75.0	77.0					22																	31535944		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535944C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.397G>A	22.37:g.31535944C>T	ENSP00000215885:p.Ala133Thr						p.A133T	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			1	526	-			133					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.397G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536421	0.27475	.	.	ENSG00000100078	ENST00000215885	T	0.12672	2.66	5.35	2.02	0.26589	.	1.547840	0.03653	N	0.241390	T	0.11410	0.0278	L	0.52573	1.65	0.09310	N	1	P	0.46277	0.875	B	0.35859	0.212	T	0.30357	-0.9981	10	0.18710	T	0.47	-0.0232	4.1994	0.10458	0.1626:0.5938:0.1571:0.0866	.	133	Q9NZ20	PA2G3_HUMAN	T	133	ENSP00000215885:A133T	ENSP00000215885:A133T	A	-	1	0	PLA2G3	29865944	0.001000	0.12720	0.006000	0.13384	0.463000	0.32649	0.028000	0.13644	0.227000	0.20999	-0.282000	0.10007	GCA		0.632	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		6	77	0	0	0	0	6	77				
MKL1	57591	broad.mit.edu	37	22	40825661	40825661	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:40825661C>T	ENST00000355630.3	-	7	840	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	MKL1_ENST00000396617.3_Missense_Mutation_p.V84M|MKL1_ENST00000407029.1_Missense_Mutation_p.V84M|MKL1_ENST00000402630.1_Missense_Mutation_p.V84M|MKL1_ENST00000402042.1_Missense_Mutation_p.V84M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	84	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TTCTTCTCCACCAGCTCCATG	0.572			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(250-252)GTG>ATG		megakaryoblastic leukemia 1 protein							125.0	109.0	114.0					22																	40825661		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40825661C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.250G>A	22.37:g.40825661C>T	ENSP00000347847:p.Val84Met					MKL1_uc003ayw.1_Missense_Mutation_p.V84M|MKL1_uc010gye.1_Missense_Mutation_p.V84M|MKL1_uc010gyf.1_Missense_Mutation_p.V84M	p.V84M	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			4	457	-			84			RPEL 2.|Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.250G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667899	0.88348	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630	D;D;D;D;D	0.99845	-7.12;-7.12;-7.12;-7.12;-7.12	5.25	5.25	0.73442	.	0.084944	0.47093	D	0.000257	D	0.99816	0.9919	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.97063	0.9772	10	0.87932	D	0	-22.5719	19.2381	0.93869	0.0:1.0:0.0:0.0	.	84;84;84	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	M	84	ENSP00000347847:V84M;ENSP00000379861:V84M;ENSP00000385584:V84M;ENSP00000385835:V84M;ENSP00000385076:V84M	ENSP00000347847:V84M	V	-	1	0	MKL1	39155607	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.730000	0.62015	2.633000	0.89246	0.467000	0.42956	GTG		0.572	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		6	68	0	0	0	0	6	68				
SMC1B	27127	broad.mit.edu	37	22	45782901	45782901	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr22:45782901C>T	ENST00000357450.4	-	11	1756	c.1757G>A	c.(1756-1758)aGg>aAg	p.R586K	SMC1B_ENST00000404354.3_Missense_Mutation_p.R586K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	586	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTAAGCTCCCTTAGTCTTTC	0.328																																						uc003bgc.2		NA																	0				ovary(2)	2						c.(1756-1758)AGG>AAG		SMC1 structural maintenance of chromosomes							151.0	143.0	146.0					22																	45782901		1854	4107	5961	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45782901C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1757G>A	22.37:g.45782901C>T	ENSP00000350036:p.Arg586Lys					SMC1B_uc003bgd.2_Missense_Mutation_p.R586K|SMC1B_uc003bge.1_Missense_Mutation_p.R369K	p.R586K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	11	1809	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	586			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1757G>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623705	0.87460	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86097	-2.07;-2.07	5.43	4.41	0.53225	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000011	D	0.90827	0.7119	M	0.67625	2.065	0.58432	D	0.999999	P;D;D	0.89917	0.603;1.0;0.999	P;D;D	0.91635	0.75;0.995;0.999	D	0.89735	0.3929	10	0.33940	T	0.23	.	15.5838	0.76465	0.1388:0.8612:0.0:0.0	.	586;586;586	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	K	586	ENSP00000350036:R586K;ENSP00000385902:R586K	ENSP00000350036:R586K	R	-	2	0	SMC1B	44161565	0.998000	0.40836	0.367000	0.25926	0.958000	0.62258	5.699000	0.68310	1.259000	0.44117	0.591000	0.81541	AGG		0.328	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		34	93	0	0	0	0	34	93				
TCAIM	285343	broad.mit.edu	37	3	44399311	44399311	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:44399311G>C	ENST00000342649.4	+	3	535	c.108G>C	c.(106-108)ttG>ttC	p.L36F	TCAIM_ENST00000383746.3_Missense_Mutation_p.L36F|TCAIM_ENST00000396078.3_Missense_Mutation_p.L36F|TCAIM_ENST00000417237.1_Missense_Mutation_p.L36F	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	36						mitochondrion (GO:0005739)											TCAATGCCTTGAGGCCTTTCT	0.388																																						uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(106-108)TTG>TTC		hypothetical protein LOC285343 isoform 1							120.0	117.0	118.0					3																	44399311		2203	4300	6503	SO:0001583	missense	285343					mitochondrion		g.chr3:44399311G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.108G>C	3.37:g.44399311G>C	ENSP00000341539:p.Leu36Phe					C3orf23_uc003cnd.3_Missense_Mutation_p.L36F|C3orf23_uc003cne.3_5'UTR|C3orf23_uc003cnb.3_Missense_Mutation_p.L36F|C3orf23_uc003cnc.3_Missense_Mutation_p.L36F	p.L36F	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	353	+			36					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.108G>C	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783159	0.70222	.	.	ENSG00000179152	ENST00000383746;ENST00000417237;ENST00000396078;ENST00000342649	T;T;T;T	0.73363	-0.74;-0.5;-0.74;-0.5	5.44	0.406	0.16366	.	0.000000	0.64402	D	0.000001	D	0.82944	0.5147	M	0.82823	2.61	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79752	-0.1671	10	0.87932	D	0	.	5.9856	0.19432	0.3388:0.2354:0.4257:0.0	.	36;36	Q8N3R3;Q8N3R3-3	CC023_HUMAN;.	F	36	ENSP00000373252:L36F;ENSP00000402581:L36F;ENSP00000379388:L36F;ENSP00000341539:L36F	ENSP00000341539:L36F	L	+	3	2	C3orf23	44374315	0.989000	0.36119	0.983000	0.44433	0.994000	0.84299	0.225000	0.17757	0.012000	0.14892	0.557000	0.71058	TTG		0.388	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		6	24	0	0	0	0	6	24				
TMEM115	11070	broad.mit.edu	37	3	50392907	50392907	+	Missense_Mutation	SNP	T	T	C	rs374140891		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:50392907T>C	ENST00000266025.3	-	2	1469	c.923A>G	c.(922-924)gAt>gGt	p.D308G	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	308					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCATCATCATCCATGCTGGG	0.607																																						uc003dan.1		NA																	0					0						c.(922-924)GAT>GGT		PL6 protein							72.0	68.0	69.0					3																	50392907		2203	4300	6503	SO:0001583	missense	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50392907T>C	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.923A>G	3.37:g.50392907T>C	ENSP00000266025:p.Asp308Gly						p.D308G	NM_007024	NP_008955	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1368	-			308					A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	37	c.923A>G	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419678	0.62622	.	.	ENSG00000126062	ENST00000266025	.	.	.	5.17	5.17	0.71159	.	0.101026	0.64402	D	0.000003	T	0.48995	0.1531	L	0.43152	1.355	0.80722	D	1	P	0.34522	0.455	B	0.32465	0.146	T	0.46133	-0.9213	9	0.27082	T	0.32	-1.3701	14.8408	0.70223	0.0:0.0:0.0:1.0	.	308	Q12893	TM115_HUMAN	G	308	.	ENSP00000266025:D308G	D	-	2	0	TMEM115	50367911	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.745000	0.85046	2.171000	0.68590	0.460000	0.39030	GAT		0.607	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		9	36	0	0	0	0	9	36				
EPHA3	2042	broad.mit.edu	37	3	89478308	89478308	+	Silent	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:89478308T>C	ENST00000336596.2	+	12	2352	c.2127T>C	c.(2125-2127)agT>agC	p.S709S	EPHA3_ENST00000494014.1_Silent_p.S709S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTTGGATAGTTTCCTACGTG	0.323										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2125-2127)AGT>AGC		ephrin receptor EphA3 isoform a precursor							99.0	104.0	102.0					3																	89478308		2203	4299	6502	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478308T>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2127T>C	3.37:g.89478308T>C		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.S709S	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	12	2352	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	709			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2127T>C	CCDS2922.1																																																																																				0.323	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		12	34	0	0	0	0	12	34				
EPHA6	285220	broad.mit.edu	37	3	96706230	96706230	+	Silent	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:96706230A>G	ENST00000389672.5	+	3	545	c.507A>G	c.(505-507)gtA>gtG	p.V169V	EPHA6_ENST00000470610.2_Silent_p.V169V|EPHA6_ENST00000542517.1_Silent_p.V75V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	75	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATACCAGGTATGTAATGTAA	0.378																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(505-507)GTA>GTG		EPH receptor A6 isoform a							105.0	103.0	104.0					3																	96706230		1875	4106	5981	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706230A>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.507A>G	3.37:g.96706230A>G						EPHA6_uc003drp.1_Silent_p.V169V	p.V169V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	550	+			74			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.507A>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	8.653	0.898649	0.17686	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	1.85	0.25348	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21965	-1.0230	4	.	.	.	.	1.8811	0.03228	0.4894:0.2493:0.141:0.1202	.	.	.	.	V	114	.	.	M	+	1	0	EPHA6	98188920	0.071000	0.21146	0.999000	0.59377	0.996000	0.88848	-0.601000	0.05687	0.060000	0.16281	0.533000	0.62120	ATG		0.378	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		16	127	0	0	0	0	16	127				
PIK3CA	5290	broad.mit.edu	37	3	178921549	178921549	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:178921549T>G	ENST00000263967.3	+	5	1188	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344G(8)|p.V344A(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GCAACCTACGTGAATGTAAAT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		13	Substitution - Missense(13)	p.V344A(1)|p.V344G(1)	endometrium(6)|large_intestine(4)|cervix(2)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1030-1032)GTG>GGG		phosphoinositide-3-kinase, catalytic, alpha							68.0	67.0	67.0					3																	178921549		1808	4073	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921549T>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1031T>G	3.37:g.178921549T>G	ENSP00000263967:p.Val344Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.V344G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1188	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		344					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1031T>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391827	0.83011	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.84581	0.0661	10	0.49607	T	0.09	-22.945	15.721	0.77710	0.0:0.0:0.0:1.0	.	344	P42336	PK3CA_HUMAN	G	344	ENSP00000263967:V344G	ENSP00000263967:V344G	V	+	2	0	PIK3CA	180404243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	2.166000	0.68216	0.402000	0.26972	GTG		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	44	0	0	0	0	9	44				
MCF2L2	23101	broad.mit.edu	37	3	183041051	183041051	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr3:183041051C>T	ENST00000328913.3	-	6	872	c.575G>A	c.(574-576)cGc>cAc	p.R192H	MCF2L2_ENST00000414362.2_Missense_Mutation_p.R192H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R192H|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R192H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	192	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGACCGTGGCGATATTCCAA	0.488																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(574-576)CGC>CAC		Rho family guanine-nucleotide exchange factor							125.0	122.0	123.0					3																	183041051		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041051C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.575G>A	3.37:g.183041051C>T	ENSP00000328118:p.Arg192His					MCF2L2_uc003flj.1_Missense_Mutation_p.R192H|MCF2L2_uc003flp.1_Missense_Mutation_p.R227H	p.R192H	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		6	665	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		192			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.575G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098873	0.56183	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.56	3.7	0.42460	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.315698	0.35067	N	0.003471	T	0.51719	0.1691	L	0.38531	1.155	0.25144	N	0.990474	B;B;B	0.29378	0.243;0.178;0.068	B;B;B	0.32677	0.097;0.15;0.019	T	0.49000	-0.8984	10	0.56958	D	0.05	.	9.764	0.40550	0.1397:0.7854:0.0:0.0749	.	192;192;192	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	H	192	ENSP00000328118:R192H;ENSP00000420070:R192H;ENSP00000388190:R192H;ENSP00000414131:R192H	ENSP00000328118:R192H	R	-	2	0	MCF2L2	184523745	1.000000	0.71417	0.983000	0.44433	0.834000	0.47266	1.412000	0.34714	0.653000	0.30826	0.655000	0.94253	CGC		0.488	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		23	79	0	0	0	0	23	79				
JAKMIP1	152789	broad.mit.edu	37	4	6058428	6058428	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:6058428T>C	ENST00000282924.5	-	12	2188	c.1703A>G	c.(1702-1704)gAa>gGa	p.E568G	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E403G|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E568G|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E568G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E383G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	568	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACGCACCTTTTCCAGCAAGTC	0.542																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1702-1704)GAA>GGA		janus kinase and microtubule interacting protein							154.0	131.0	139.0					4																	6058428		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6058428T>C	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1703A>G	4.37:g.6058428T>C	ENSP00000282924:p.Glu568Gly					JAKMIP1_uc010idb.1_Missense_Mutation_p.E568G|JAKMIP1_uc010idc.1_Missense_Mutation_p.E383G|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E403G|JAKMIP1_uc003giv.3_Missense_Mutation_p.E568G|JAKMIP1_uc010ide.2_Missense_Mutation_p.E568G	p.E568G	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			12	1979	-			568			Mediates interaction with TYK2 and GABBR1.|Potential.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1703A>G	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560780	0.65538	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.38722	1.62;1.21;1.54;1.54;1.12	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000002	T	0.60261	0.2255	M	0.77820	2.39	0.49213	D	0.999766	P;P;P;D	0.63880	0.728;0.782;0.884;0.993	B;B;B;P	0.58210	0.297;0.325;0.366;0.835	T	0.65973	-0.6038	10	0.62326	D	0.03	.	13.9543	0.64137	0.0:0.0:0.0:1.0	.	403;383;568;568	B4DHZ8;Q96N16-5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	G	568;383;460;568;568;403	ENSP00000386711:E568G;ENSP00000387042:E383G;ENSP00000282924:E568G;ENSP00000386925:E568G;ENSP00000386745:E403G	ENSP00000282924:E568G	E	-	2	0	JAKMIP1	6109329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.334000	0.79224	1.891000	0.54761	0.460000	0.39030	GAA		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		18	72	0	0	0	0	18	72				
YTHDC1	91746	broad.mit.edu	37	4	69203343	69203343	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:69203343G>A	ENST00000344157.4	-	3	741	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R136W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R136W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	136					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCCTTTTCCGGACACAGGTT	0.403																																						uc003hdx.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(406-408)CGG>TGG		splicing factor YT521-B isoform 1							78.0	76.0	77.0					4																	69203343		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69203343G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.406C>T	4.37:g.69203343G>A	ENSP00000339245:p.Arg136Trp					YTHDC1_uc003hdy.2_Missense_Mutation_p.R136W	p.R136W	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			3	759	-			136					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.406C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039544	0.55003	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30714	1.79;1.52	5.38	3.4	0.38934	.	0.169936	0.48286	D	0.000191	T	0.41971	0.1182	L	0.29908	0.895	0.42717	D	0.993667	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.973	T	0.41197	-0.9522	10	0.72032	D	0.01	.	12.9374	0.58322	0.0:0.0:0.5488:0.4511	.	136;136	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	W	136	ENSP00000339245:R136W;ENSP00000347888:R136W	ENSP00000339245:R136W	R	-	1	2	YTHDC1	68885938	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	1.924000	0.40065	1.203000	0.43233	0.585000	0.79938	CGG		0.403	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		5	43	0	0	0	0	5	43				
SLC4A4	8671	broad.mit.edu	37	4	72215743	72215743	+	Silent	SNP	A	A	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:72215743A>T	ENST00000264485.5	+	5	621	c.504A>T	c.(502-504)ggA>ggT	p.G168G	SLC4A4_ENST00000351898.6_Silent_p.G168G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.G124G|SLC4A4_ENST00000340595.3_Silent_p.G124G|SLC4A4_ENST00000425175.1_Silent_p.G168G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	168					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGGAGAAAGGATCCATCATGC	0.453																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(502-504)GGA>GGT		solute carrier family 4, sodium bicarbonate							188.0	174.0	179.0					4																	72215743		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72215743A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.504A>T	4.37:g.72215743A>T						SLC4A4_uc010iic.2_Silent_p.G168G|SLC4A4_uc010iib.2_Silent_p.G168G|SLC4A4_uc003hfz.2_Silent_p.G168G|SLC4A4_uc003hgc.3_Silent_p.G124G|SLC4A4_uc003hga.2_Silent_p.G46G|SLC4A4_uc003hgb.3_Silent_p.G124G	p.G168G	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		5	621	+			168			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.504A>T	CCDS43236.1																																																																																				0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		15	70	0	0	0	0	15	70				
PRSS12	8492	broad.mit.edu	37	4	119219987	119219987	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:119219987T>C	ENST00000296498.3	-	9	2020	c.1738A>G	c.(1738-1740)Atc>Gtc	p.I580V	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	580	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTTGCTTGATACAGTCAGCC	0.448																																						uc003ica.1		NA																	0				skin(1)	1						c.(1738-1740)ATC>GTC		neurotrypsin precursor							173.0	154.0	161.0					4																	119219987		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119219987T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1738A>G	4.37:g.119219987T>C	ENSP00000296498:p.Ile580Val						p.I580V	NM_003619	NP_003610	P56730	NETR_HUMAN			9	1785	-			580			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1738A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433840	0.25813	.	.	ENSG00000164099	ENST00000296498	T	0.43294	0.95	5.55	-1.1	0.09872	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.262404	0.44285	N	0.000464	T	0.18299	0.0439	N	0.11255	0.115	0.30385	N	0.781554	B	0.10296	0.003	B	0.16289	0.015	T	0.08597	-1.0714	10	0.29301	T	0.29	.	6.1338	0.20219	0.0:0.2596:0.1236:0.6168	.	580	P56730	NETR_HUMAN	V	580	ENSP00000296498:I580V	ENSP00000296498:I580V	I	-	1	0	PRSS12	119439435	1.000000	0.71417	0.910000	0.35882	0.996000	0.88848	1.132000	0.31418	-0.394000	0.07727	0.482000	0.46254	ATC		0.448	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			12	63	0	0	0	0	12	63				
FAT4	79633	broad.mit.edu	37	4	126242740	126242740	+	Splice_Site	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:126242740A>G	ENST00000394329.3	+	1	5187	c.5174A>G	c.(5173-5175)gAg>gGg	p.E1725G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1725	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGAGCAGAGGTAATGATT	0.353																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5173-5175)GAG>GGG		FAT tumor suppressor homolog 4 precursor							45.0	42.0	43.0					4																	126242740		1842	4095	5937	SO:0001630	splice_region_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242740A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5175+1A>G	4.37:g.126242740A>G							p.E1725G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	5174	+			1725			Cadherin 16.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5174A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560814	0.65538	.	.	ENSG00000196159	ENST00000394329	T	0.38560	1.13	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.34676	U	0.003761	T	0.46405	0.1391	L	0.39467	1.215	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.30563	-0.9974	10	0.29301	T	0.29	.	15.2098	0.73214	1.0:0.0:0.0:0.0	.	1725	Q6V0I7	FAT4_HUMAN	G	1725	ENSP00000377862:E1725G	ENSP00000377862:E1725G	E	+	2	0	FAT4	126462190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.052000	0.93855	1.997000	0.58415	0.533000	0.62120	GAG		0.353	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	Missense_Mutation	8	28	0	0	0	0	8	28				
FAT4	79633	broad.mit.edu	37	4	126412581	126412581	+	Silent	SNP	C	C	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:126412581C>A	ENST00000394329.3	+	17	14617	c.14604C>A	c.(14602-14604)ccC>ccA	p.P4868P	FAT4_ENST00000335110.5_Silent_p.P3109P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4868				P -> S (in Ref. 4; BAB15534). {ECO:0000305}.	branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATGCCCAAATTATCTC	0.458																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14602-14604)CCC>CCA		FAT tumor suppressor homolog 4 precursor							67.0	67.0	67.0					4																	126412581		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412581C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14604C>A	4.37:g.126412581C>A						FAT4_uc011cgp.1_Silent_p.P3109P|FAT4_uc003ifi.1_Silent_p.P2345P	p.P4868P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14604	+			4868	P -> S (in Ref. 4; BAB15534).		Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.14604C>A	CCDS3732.3																																																																																				0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	46	1	0	3.53e-06	3.94e-06	17	46				
GZMK	3003	broad.mit.edu	37	5	54320494	54320494	+	Missense_Mutation	SNP	A	A	T	rs368325767		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:54320494A>T	ENST00000231009.2	+	2	141	c.71A>T	c.(70-72)aAt>aTt	p.N24I	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	24						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTAGGTTTCAATATGGAAATT	0.383																																						uc003jpl.1		NA																	0					0						c.(70-72)AAT>ATT		granzyme K precursor							49.0	51.0	50.0					5																	54320494		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54320494A>T	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.71A>T	5.37:g.54320494A>T	ENSP00000231009:p.Asn24Ile						p.N24I	NM_002104	NP_002095	P49863	GRAK_HUMAN			2	115	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	24					B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.71A>T	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959838	0.34565	.	.	ENSG00000113088	ENST00000231009	D	0.89050	-2.46	5.11	-6.12	0.02124	Peptidase cysteine/serine, trypsin-like (1);	1.181070	0.06039	N	0.654573	T	0.77651	0.4162	N	0.17379	0.485	0.09310	N	1	B	0.34103	0.437	B	0.31390	0.129	T	0.68622	-0.5360	10	0.66056	D	0.02	.	9.736	0.40388	0.2234:0.2323:0.5443:0.0	.	24	P49863	GRAK_HUMAN	I	24	ENSP00000231009:N24I	ENSP00000231009:N24I	N	+	2	0	GZMK	54356251	0.000000	0.05858	0.004000	0.12327	0.898000	0.52572	-0.477000	0.06583	-1.210000	0.02627	-0.435000	0.05868	AAT		0.383	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		7	19	0	0	0	0	7	19				
FSTL4	23105	broad.mit.edu	37	5	132652310	132652310	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:132652310C>T	ENST00000265342.7	-	5	693	c.444G>A	c.(442-444)ttG>ttA	p.L148L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	148						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGACATTCTTCAAGCGGGCGT	0.547											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003kyn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(442-444)TTG>TTA		follistatin-like 4 precursor							71.0	75.0	74.0					5																	132652310		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132652310C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.444G>A	5.37:g.132652310C>T			OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1597		p.L148L	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	662	-		all_cancers(142;0.244)	148					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.444G>A	CCDS34238.1																																																																																				0.547	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		9	80	0	0	0	0	9	80				
PCDHGB1	56104	broad.mit.edu	37	5	140731697	140731697	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr5:140731697A>C	ENST00000523390.1	+	1	1870	c.1870A>C	c.(1870-1872)Aca>Cca	p.T624P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	624	Cadherin 6. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGTGCGCACAGCGCGTGC	0.706																																						uc003ljo.1		NA																	0					0						c.(1870-1872)ACA>CCA		protocadherin gamma subfamily B, 1 isoform 1							14.0	15.0	15.0					5																	140731697		1841	3998	5839	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731697A>C	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1870A>C	5.37:g.140731697A>C	ENSP00000429273:p.Thr624Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.T624P	p.T624P	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1870	+			624			Extracellular (Potential).|Cadherin 6.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1870A>C	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	16.61	3.170289	0.57584	.	.	ENSG00000254221	ENST00000523390	T	0.56776	0.44	5.22	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79902	0.4526	H	0.96015	3.755	0.31175	N	0.702752	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.982	T	0.83297	-0.0030	9	0.87932	D	0	.	12.0671	0.53594	0.8557:0.1443:0.0:0.0	.	624;624	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	P	624	ENSP00000429273:T624P	ENSP00000429273:T624P	T	+	1	0	PCDHGB1	140711881	1.000000	0.71417	0.958000	0.39756	0.603000	0.37013	9.043000	0.93799	0.894000	0.36317	0.459000	0.35465	ACA		0.706	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		9	57	0	0	0	0	9	57				
HIST1H2BI	8346	broad.mit.edu	37	6	26273547	26273547	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:26273547G>A	ENST00000377733.2	+	1	404	c.344G>A	c.(343-345)gGc>gAc	p.G115D	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	115					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GTGTCGGAGGGCACCAAGGCG	0.567																																						uc003nhk.2		NA																	0					0						c.(343-345)GGC>GAC		histone cluster 1, H2bi							42.0	44.0	43.0					6																	26273547		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273547G>A	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.344G>A	6.37:g.26273547G>A	ENSP00000366962:p.Gly115Asp					HIST1H3G_uc003nhi.2_5'Flank	p.G115D	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	344	+			115					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.344G>A	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.249660	0.39797	.	.	ENSG00000168242	ENST00000377733	T	0.61627	0.09	4.36	3.49	0.39957	.	0.000000	0.42172	U	0.000749	T	0.78033	0.4220	H	0.99104	4.43	0.29149	N	0.878521	.	.	.	.	.	.	T	0.77341	-0.2624	8	0.87932	D	0	.	10.9248	0.47185	0.0935:0.0:0.9065:0.0	.	.	.	.	D	115	ENSP00000366962:G115D	ENSP00000366962:G115D	G	+	2	0	HIST1H2BI	26381526	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	6.297000	0.72757	0.831000	0.34780	-0.253000	0.11424	GGC		0.567	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		15	55	0	0	0	0	15	55				
MAPK14	1432	broad.mit.edu	37	6	36020563	36020563	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:36020563C>T	ENST00000229794.4	+	2	592	c.204C>T	c.(202-204)acC>acT	p.T68T	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000229795.3_Silent_p.T68T|MAPK14_ENST00000310795.4_Silent_p.T68T	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CGAAAAGAACCTACAGAGAAC	0.378																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NA																	0				ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(202-204)ACC>ACT		mitogen-activated protein kinase 14 isoform 1							103.0	98.0	99.0					6																	36020563		2203	4300	6503	SO:0001819	synonymous_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36020563C>T	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.204C>T	6.37:g.36020563C>T						MAPK14_uc011dth.1_Silent_p.T68T|MAPK14_uc003olo.2_Silent_p.T68T|MAPK14_uc003olq.2_Silent_p.T68T|MAPK14_uc003olr.2_Silent_p.T68T|MAPK14_uc011dti.1_5'UTR	p.T68T	NM_001315	NP_001306	Q16539	MK14_HUMAN			2	685	+			68			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	c.204C>T	CCDS4816.1																																																																																				0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		8	36	0	0	0	0	8	36				
LAMA2	3908	broad.mit.edu	37	6	129687384	129687384	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:129687384G>A	ENST00000421865.2	+	33	4787	c.4738G>A	c.(4738-4740)Ggc>Agc	p.G1580S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1580	Domain II and I.				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)		TGAGTGCACTGGCCTTCTTCT	0.468																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4738-4740)GGC>AGC		laminin alpha 2 subunit isoform a precursor							125.0	112.0	116.0					6																	129687384		2203	4300	6503	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.chr6:129687384G>A	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.4738G>A	6.37:g.129687384G>A	ENSP00000400365:p.Gly1580Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.G1580S	p.G1580S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4843	+			1580			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4738G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136227	0.94517	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.957	T	0.63659	-0.6587	10	0.62326	D	0.03	.	17.2529	0.87047	0.0:0.0:1.0:0.0	.	1580;1580	A6NF00;P24043	.;LAMA2_HUMAN	S	1580	ENSP00000400365:G1580S	ENSP00000346769:G1580S	G	+	1	0	LAMA2	129729077	1.000000	0.71417	0.984000	0.44739	0.925000	0.55904	8.685000	0.91246	2.498000	0.84270	0.650000	0.86243	GGC		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			11	88	0	0	0	0	11	88				
TAAR6	319100	broad.mit.edu	37	6	132891604	132891604	+	Silent	SNP	T	T	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr6:132891604T>C	ENST00000275198.1	+	1	144	c.144T>C	c.(142-144)ttT>ttC	p.F48F		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGGCTGTGTTTGGAAACCTCC	0.527																																						uc011eck.1		NA																	0				ovary(2)|skin(1)	3						c.(142-144)TTT>TTC		trace amine associated receptor 6							186.0	164.0	172.0					6																	132891604		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891604T>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.144T>C	6.37:g.132891604T>C							p.F48F	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	144	+	Breast(56;0.112)		48			Helical; Name=1; (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.144T>C	CCDS5155.1																																																																																				0.527	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		18	110	0	0	0	0	18	110				
ZNF804B	219578	broad.mit.edu	37	7	88963951	88963951	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:88963951A>G	ENST00000333190.4	+	4	2264	c.1655A>G	c.(1654-1656)tAt>tGt	p.Y552C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	552							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGAGGAAATATAATTTGGAC	0.343										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1654-1656)TAT>TGT		zinc finger protein 804B							42.0	45.0	44.0					7																	88963951		2199	4295	6494	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963951A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1655A>G	7.37:g.88963951A>G	ENSP00000329638:p.Tyr552Cys	HNSCC(36;0.09)					p.Y552C	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2193	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		552					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1655A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.551	-0.849607	0.02651	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	5.49	1.87	0.25490	.	0.793931	0.11614	N	0.546486	T	0.07413	0.0187	M	0.65975	2.015	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.41070	-0.9529	10	0.49607	T	0.09	-1.5096	1.3835	0.02235	0.4286:0.2259:0.2292:0.1163	.	552	A4D1E1	Z804B_HUMAN	C	552	ENSP00000329638:Y552C	ENSP00000329638:Y552C	Y	+	2	0	ZNF804B	88801887	0.287000	0.24315	0.168000	0.22838	0.026000	0.11368	0.005000	0.13129	0.177000	0.19895	0.533000	0.62120	TAT		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	40	0	0	0	0	4	40				
ZNF789	285989	broad.mit.edu	37	7	99074083	99074083	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:99074083T>G	ENST00000331410.5	+	2	274	c.4T>G	c.(4-6)Ttc>Gtc	p.F2V	ZNF789_ENST00000493485.1_5'UTR|ZNF789_ENST00000448667.1_5'UTR|ZNF789_ENST00000379724.3_Missense_Mutation_p.F2V|ZNF789_ENST00000483089.1_5'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGCCATGTTCCCACCAGC	0.562																																						uc003uqq.1		NA																	0					0						c.(4-6)TTC>GTC		zinc finger protein 789 isoform 1							68.0	58.0	62.0					7																	99074083		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99074083T>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.4T>G	7.37:g.99074083T>G	ENSP00000331927:p.Phe2Val					ZNF789_uc003uqp.2_Missense_Mutation_p.F2V|ZNF789_uc010lfw.1_5'UTR	p.F2V	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN			2	223	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		2					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.4T>G	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207242	0.58343	.	.	ENSG00000198556	ENST00000331410;ENST00000379724	T;T	0.04551	3.6;4.52	3.89	1.02	0.19986	.	.	.	.	.	T	0.03608	0.0103	L	0.41492	1.28	0.09310	N	1	B;P	0.39809	0.131;0.689	B;B	0.33254	0.026;0.16	T	0.42649	-0.9439	9	0.32370	T	0.25	.	5.0315	0.14411	0.0:0.3688:0.0:0.6312	.	2;2	Q5FWF6;A6NH61	ZN789_HUMAN;.	V	2	ENSP00000331927:F2V;ENSP00000369047:F2V	ENSP00000331927:F2V	F	+	1	0	ZNF789	98912019	0.000000	0.05858	0.022000	0.16811	0.323000	0.28346	-0.272000	0.08560	0.248000	0.21435	0.459000	0.35465	TTC		0.562	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		7	52	0	0	0	0	7	52				
PIK3CG	5294	broad.mit.edu	37	7	106508732	106508732	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:106508732C>T	ENST00000359195.3	+	2	1036	c.726C>T	c.(724-726)ggC>ggT	p.G242G	PIK3CG_ENST00000496166.1_Silent_p.G242G|PIK3CG_ENST00000440650.2_Silent_p.G242G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	242	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACACCCCCGGCGCCATCCTGC	0.527																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(724-726)GGC>GGT		phosphoinositide-3-kinase, catalytic, gamma							81.0	87.0	85.0					7																	106508732		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508732C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.726C>T	7.37:g.106508732C>T						PIK3CG_uc003vdu.2_Silent_p.G242G|PIK3CG_uc003vdw.2_Silent_p.G242G	p.G242G	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	811	+			242					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.726C>T	CCDS5739.1																																																																																				0.527	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			18	98	0	0	0	0	18	98				
PLXNA4	91584	broad.mit.edu	37	7	132192500	132192500	+	Missense_Mutation	SNP	G	G	A	rs199889502	byFrequency	TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:132192500G>A	ENST00000359827.3	-	2	1915	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A318V|PLXNA4_ENST00000423507.2_Missense_Mutation_p.A318V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A318V			Q9HCM2	PLXA4_HUMAN	plexin A4	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A318V(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGGCCCCCGCTTTGGACAG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19478	0.0		0.0	False		,,,				2504	0.002					uc003vra.3		NA																	3	Substitution - Missense(3)		large_intestine(3)	ovary(1)	1						c.(952-954)GCG>GTG		plexin A4 isoform 1		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	49.0	52.0		953,953,953	4.8	0.9	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	318/493,318/1895,318/523	132192500	1,13005	2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192500G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.953C>T	7.37:g.132192500G>A	ENSP00000352882:p.Ala318Val					PLXNA4_uc003vrc.2_Missense_Mutation_p.A318V|PLXNA4_uc003vrb.2_Missense_Mutation_p.A318V	p.A318V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	1182	-			318			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.953C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102952	0.37145	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.72	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000007	T	0.16981	0.0408	L	0.55213	1.73	0.80722	D	1	P;D;D	0.60160	0.939;0.978;0.987	P;P;P	0.58077	0.54;0.832;0.817	T	0.00899	-1.1522	10	0.39692	T	0.17	.	16.109	0.81247	0.0:0.0:0.8651:0.1349	.	318;318;318	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	V	318	ENSP00000323194:A318V;ENSP00000352882:A318V;ENSP00000392772:A318V;ENSP00000367800:A318V	ENSP00000323194:A318V	A	-	2	0	PLXNA4	131843040	1.000000	0.71417	0.891000	0.34965	0.102000	0.19082	9.864000	0.99589	1.407000	0.46875	-0.182000	0.12963	GCG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	42	0	0	0	0	7	42				
C7orf49	78996	broad.mit.edu	37	7	134852541	134852541	+	Silent	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr7:134852541A>G	ENST00000393114.3	-	3	337	c.156T>C	c.(154-156)acT>acC	p.T52T	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_5'UTR|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.T51T			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	52						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGCAGTACACAGTCCTTGTCG	0.473																																						uc003vsl.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(154-156)ACT>ACC		modulator of retrovirus infection							182.0	144.0	157.0					7																	134852541		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134852541A>G	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.156T>C	7.37:g.134852541A>G						C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.T23T|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.T51T|C7orf49_uc003vso.2_5'UTR	p.T52T	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN			3	423	-			52					Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	c.156T>C	CCDS5838.2																																																																																				0.473	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		3	86	0	0	0	0	3	86				
USP17L2	377630	broad.mit.edu	37	8	11996173	11996173	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:11996173G>T	ENST00000333796.3	-	1	413	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	33					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GAAGTCCGCTGGATTTCAGCA	0.527																																						uc003wvc.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(97-99)CAG>AAG		deubiquitinating enzyme 3							26.0	32.0	30.0					8																	11996173		1029	2302	3331	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11996173G>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.97C>A	8.37:g.11996173G>T	ENSP00000333329:p.Gln33Lys					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.Q33K	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	97	-			33						Missense_Mutation	SNP	ENST00000333796.3	37	c.97C>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	g	0.892	-0.725272	0.03158	.	.	ENSG00000223443	ENST00000333796	T	0.10763	2.84	0.36	-0.721	0.11189	.	4.968620	0.01274	U	0.009536	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	P	0.41450	0.75	B	0.34873	0.191	T	0.10894	-1.0610	9	0.28530	T	0.3	.	.	.	.	.	33	Q6R6M4	U17L2_HUMAN	K	33	ENSP00000333329:Q33K	ENSP00000333329:Q33K	Q	-	1	0	USP17L2	12033582	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.129000	0.10515	-1.595000	0.01613	-1.623000	0.00790	CAG		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		17	82	1	0	1.34e-09	1.55e-09	17	82				
PREX2	80243	broad.mit.edu	37	8	69031723	69031723	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:69031723A>G	ENST00000288368.4	+	28	3755	c.3478A>G	c.(3478-3480)Agt>Ggt	p.S1160G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1160					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAGATACATAGTTGCCTTGA	0.388																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3478-3480)AGT>GGT		DEP domain containing 2 isoform a							207.0	187.0	194.0					8																	69031723		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69031723A>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3478A>G	8.37:g.69031723A>G	ENSP00000288368:p.Ser1160Gly						p.S1160G	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			28	3505	+			1160					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3478A>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	3.741	-0.053504	0.07362	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.34859	1.34	5.39	4.08	0.47627	.	0.269578	0.41396	D	0.000900	T	0.10852	0.0265	N	0.01464	-0.85	0.36991	D	0.894807	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	10	0.02654	T	1	.	8.6943	0.34287	0.8384:0.0:0.1616:0.0	.	1160	Q70Z35	PREX2_HUMAN	G	1160;1166	ENSP00000288368:S1160G	ENSP00000288368:S1160G	S	+	1	0	PREX2	69194277	0.997000	0.39634	0.980000	0.43619	0.992000	0.81027	1.616000	0.36933	2.178000	0.69098	0.528000	0.53228	AGT		0.388	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		48	55	0	0	0	0	48	55				
TSPYL5	85453	broad.mit.edu	37	8	98290036	98290036	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:98290036C>T	ENST00000322128.3	-	1	140	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	13					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CGGTTTTTGGCGCGGGAGGAC	0.692																																						uc003yhy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(37-39)GCC>ACC		TSPY-like 5							11.0	11.0	11.0					8																	98290036		2150	4195	6345	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98290036C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.37G>A	8.37:g.98290036C>T	ENSP00000322802:p.Ala13Thr						p.A13T	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	141	-	Breast(36;2.56e-06)		13					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.37G>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263374	0.80358	.	.	ENSG00000180543	ENST00000322128	T	0.19938	2.11	3.96	3.96	0.45880	.	0.446812	0.16591	N	0.207744	T	0.15955	0.0384	L	0.39245	1.2	0.29628	N	0.84568	P	0.50943	0.94	B	0.37650	0.255	T	0.07083	-1.0791	10	0.39692	T	0.17	-3.911	11.8236	0.52254	0.0:1.0:0.0:0.0	.	13	Q86VY4	TSYL5_HUMAN	T	13	ENSP00000322802:A13T	ENSP00000322802:A13T	A	-	1	0	TSPYL5	98359212	0.996000	0.38824	0.999000	0.59377	0.971000	0.66376	0.277000	0.18734	2.483000	0.83821	0.655000	0.94253	GCC		0.692	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		4	26	0	0	0	0	4	26				
SYBU	55638	broad.mit.edu	37	8	110587403	110587403	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:110587403C>T	ENST00000422135.1	-	8	2239	c.1724G>A	c.(1723-1725)aGa>aAa	p.R575K	SYBU_ENST00000440310.1_Missense_Mutation_p.R575K|SYBU_ENST00000399066.3_Missense_Mutation_p.R572K|SYBU_ENST00000408889.3_Missense_Mutation_p.R456K|SYBU_ENST00000433638.1_Missense_Mutation_p.R575K|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000276646.9_Missense_Mutation_p.R575K|SYBU_ENST00000529175.1_Missense_Mutation_p.R369K|SYBU_ENST00000532779.1_Missense_Mutation_p.R507K|SYBU_ENST00000528647.1_Missense_Mutation_p.R574K|SYBU_ENST00000533171.1_Missense_Mutation_p.R575K|SYBU_ENST00000408908.2_Missense_Mutation_p.R575K|SYBU_ENST00000529690.1_Missense_Mutation_p.R445K|SYBU_ENST00000528331.1_Missense_Mutation_p.R456K|SYBU_ENST00000419099.1_Missense_Mutation_p.R574K|SYBU_ENST00000533895.1_Missense_Mutation_p.R574K|SYBU_ENST00000533065.1_Missense_Mutation_p.R456K|SYBU_ENST00000424158.2_Missense_Mutation_p.R580K|SYBU_ENST00000446070.2_Missense_Mutation_p.R574K	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	575					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATCCAGCTCTCTCATGAGGCG	0.552																																						uc003ynj.3		NA																	0				ovary(1)	1						c.(1723-1725)AGA>AAA		Golgi-localized syntaphilin-related protein							52.0	55.0	54.0					8																	110587403		1986	4154	6140	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587403C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1724G>A	8.37:g.110587403C>T	ENSP00000407118:p.Arg575Lys					SYBU_uc003yni.3_Missense_Mutation_p.R572K|SYBU_uc003ynk.3_Missense_Mutation_p.R456K|SYBU_uc010mco.2_Missense_Mutation_p.R574K|SYBU_uc003ynl.3_Missense_Mutation_p.R574K|SYBU_uc010mcp.2_Missense_Mutation_p.R575K|SYBU_uc010mcq.2_Missense_Mutation_p.R575K|SYBU_uc003yno.3_Missense_Mutation_p.R456K|SYBU_uc010mcr.2_Missense_Mutation_p.R575K|SYBU_uc003ynm.3_Missense_Mutation_p.R574K|SYBU_uc003ynn.3_Missense_Mutation_p.R574K|SYBU_uc010mcs.2_Missense_Mutation_p.R456K|SYBU_uc010mct.2_Missense_Mutation_p.R575K|SYBU_uc010mcu.2_Missense_Mutation_p.R574K|SYBU_uc003ynp.3_Missense_Mutation_p.R507K|SYBU_uc010mcv.2_Missense_Mutation_p.R575K|SYBU_uc003ynh.3_Missense_Mutation_p.R369K|SYBU_uc011lhw.1_Missense_Mutation_p.R445K	p.R575K	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1887	-			575					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1724G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	0.833	-0.744531	0.03065	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	3.05	0.35203	.	0.433225	0.27388	N	0.019598	T	0.26666	0.0652	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.30995	-0.9959	9	0.06891	T	0.86	-1.8069	5.578	0.17235	0.0:0.4327:0.3458:0.2215	.	445;507;574;575;572	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	K	574;580;507;572;574;456;369;575;574;575;574;575;575;575;456;456;445;575	.	ENSP00000276646:R575K	R	-	2	0	SYBU	110656579	0.999000	0.42202	0.287000	0.24848	0.508000	0.34012	2.352000	0.44080	0.317000	0.23160	0.655000	0.94253	AGA		0.552	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		6	83	0	0	0	0	6	83				
LRRC6	23639	broad.mit.edu	37	8	133622493	133622493	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr8:133622493G>A	ENST00000519595.1	-	10	1157	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	LRRC6_ENST00000518642.1_Silent_p.V350V|LRRC6_ENST00000250173.1_Silent_p.V353V			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	353	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCAGGAAGGACAAGCTGAA	0.418																																						uc003ytk.2		NA																	0				ovary(1)|kidney(1)	2						c.(1057-1059)GTC>GTT		leucine rich repeat containing 6							96.0	84.0	88.0					8																	133622493		2203	4300	6503	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133622493G>A	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1059C>T	8.37:g.133622493G>A						LRRC6_uc003ytl.2_RNA	p.V353V	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1133	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		353			CS.		Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.1059C>T		.	.	.	.	.	.	.	.	.	.	G	9.827	1.187283	0.21870	.	.	ENSG00000129295	ENST00000519085	.	.	.	5.92	-0.765	0.11023	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25641	-1.0126	4	.	.	.	-9.2743	2.8246	0.05481	0.1569:0.3112:0.3968:0.1351	.	.	.	.	S	75	.	.	P	-	1	0	LRRC6	133691675	0.992000	0.36948	0.768000	0.31515	0.999000	0.98932	0.079000	0.14782	-0.098000	0.12285	0.650000	0.86243	CCT		0.418	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		10	67	0	0	0	0	10	67				
PTPRD	5789	broad.mit.edu	37	9	8499728	8499728	+	Silent	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:8499728A>G	ENST00000381196.4	-	22	2784	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	PTPRD_ENST00000356435.5_Silent_p.Y747Y|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.Y734Y|PTPRD_ENST00000358503.5_Silent_p.Y734Y|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Silent_p.Y747Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	747	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGCACCTGATATCCTCTTA	0.498										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2239-2241)TAT>TAC		protein tyrosine phosphatase, receptor type, D							193.0	165.0	175.0					9																	8499728		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499728A>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2241T>C	9.37:g.8499728A>G		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.Y747Y|PTPRD_uc003zkm.2_Silent_p.Y734Y|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.Y747Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2952	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	747			Fibronectin type-III 5.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2241T>C	CCDS43786.1																																																																																				0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			16	88	0	0	0	0	16	88				
SVEP1	79987	broad.mit.edu	37	9	113308490	113308490	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:113308490C>G	ENST00000401783.2	-	3	1205	c.869G>C	c.(868-870)cGa>cCa	p.R290P	SVEP1_ENST00000302728.8_Missense_Mutation_p.R290P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R267P|SVEP1_ENST00000374461.1_Missense_Mutation_p.R267P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	290					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTTCCCATTCGGTCACAGCA	0.443																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(868-870)CGA>CCA		polydom							85.0	80.0	82.0					9																	113308490		1968	4152	6120	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113308490C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.869G>C	9.37:g.113308490C>G	ENSP00000384917:p.Arg290Pro					SVEP1_uc010mua.1_Missense_Mutation_p.R290P|SVEP1_uc004beu.2_Missense_Mutation_p.R290P|SVEP1_uc004bev.2_Missense_Mutation_p.E19Q	p.R290P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			3	1206	-			290					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.869G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733773	0.30684	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	6.04	0.484	0.16825	Growth factor, receptor (1);	0.470071	0.21700	N	0.070425	D	0.89473	0.6725	N	0.11927	0.2	0.26809	N	0.969049	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.80455	-0.1375	10	0.28530	T	0.3	.	4.3987	0.11376	0.301:0.336:0.0:0.363	.	290;290;290	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	P	290;267;290;267	ENSP00000384917:R290P;ENSP00000363593:R267P;ENSP00000304118:R290P;ENSP00000363585:R267P	ENSP00000304118:R290P	R	-	2	0	SVEP1	112348311	0.993000	0.37304	0.989000	0.46669	0.888000	0.51559	0.795000	0.26972	0.135000	0.18707	-0.244000	0.11960	CGA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	1	0	0	0	0	3	1				
PTGS1	5742	broad.mit.edu	37	9	125154466	125154466	+	Splice_Site	SNP	A	A	G	rs199852373		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:125154466A>G	ENST00000362012.2	+	11	1449		c.e11-1		PTGS1_ENST00000540753.1_Splice_Site|PTGS1_ENST00000223423.4_Splice_Site|PTGS1_ENST00000373698.5_Splice_Site	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCTCCTTGTAGGAGAGAAGG	0.488													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.0					uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.e11-2		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						29.0	31.0	31.0					9																	125154466		2202	4300	6502	SO:0001630	splice_region_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154466A>G	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1445-1A>G	9.37:g.125154466A>G						PTGS1_uc011lys.1_Splice_Site_p.G420_splice|PTGS1_uc010mwb.1_Splice_Site_p.G336_splice|PTGS1_uc004bmf.1_Splice_Site_p.G445_splice|PTGS1_uc004bmh.1_Splice_Site_p.G373_splice|PTGS1_uc011lyt.1_Splice_Site_p.G373_splice	p.G482_splice	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1580	+								A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Splice_Site	SNP	ENST00000362012.2	37	c.1445_splice	CCDS6842.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	17.54	3.416299	0.62511	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	.	.	.	5.37	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7718	0.51962	0.8534:0.1466:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTGS1	124194287	0.985000	0.35326	0.907000	0.35723	0.877000	0.50540	2.776000	0.47709	2.038000	0.60285	0.533000	0.62120	.		0.488	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		Intron	10	24	0	0	0	0	10	24				
USP20	10868	broad.mit.edu	37	9	132637882	132637882	+	Silent	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:132637882C>T	ENST00000315480.4	+	21	2420	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	USP20_ENST00000358355.1_Silent_p.V754V|USP20_ENST00000372429.3_Silent_p.V754V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	754	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTGGTGGTCATCCTGCCCC	0.622																																						uc004bys.2		NA																	0				lung(1)|breast(1)	2						c.(2260-2262)GTC>GTT		ubiquitin specific protease 20							99.0	101.0	100.0					9																	132637882		2021	4175	6196	SO:0001819	synonymous_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132637882C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2262C>T	9.37:g.132637882C>T						USP20_uc004byr.2_Silent_p.V754V|USP20_uc004byt.1_Silent_p.V754V	p.V754V	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			21	2473	+		Ovarian(14;0.00556)	754			DUSP 1.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.2262C>T	CCDS43892.1																																																																																				0.622	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			26	61	0	0	0	0	26	61				
LCNL1	401562	broad.mit.edu	37	9	139879239	139879239	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr9:139879239A>G	ENST00000408973.2	+	3	865	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	91																	GGAGATGCGGAAAGGGGGCCT	0.662																																						uc004ckh.1		NA																	0					0						c.(271-273)AAA>GAA		lipocalin-like 1							25.0	27.0	26.0					9																	139879239		2047	4186	6233	SO:0001583	missense	401562						binding	g.chr9:139879239A>G		CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"""Lipocalins"""	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.271A>G	9.37:g.139879239A>G	ENSP00000386162:p.Lys91Glu						p.K91E	NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN			3	865	+			91						Missense_Mutation	SNP	ENST00000408973.2	37	c.271A>G	CCDS43908.1	.	.	.	.	.	.	.	.	.	.	a	16.21	3.059122	0.55325	.	.	ENSG00000214402	ENST00000408973	T	0.08984	3.03	3.89	2.73	0.32206	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.10121	0.0248	L	0.38175	1.15	0.09310	N	1	D	0.58268	0.982	P	0.51229	0.663	T	0.23691	-1.0181	9	0.31617	T	0.26	.	6.156	0.20338	0.8765:0.0:0.1235:0.0	.	91	Q6ZST4	LCNL1_HUMAN	E	91	ENSP00000386162:K91E	ENSP00000386162:K91E	K	+	1	0	LCNL1	138999060	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.730000	0.26043	0.498000	0.27948	0.393000	0.25936	AAA		0.662	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356128.1	NM_207510		7	9	0	0	0	0	7	9				
KLHL15	80311	broad.mit.edu	37	X	24024381	24024381	+	Missense_Mutation	SNP	C	C	T	rs188398180		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:24024381C>T	ENST00000328046.8	-	3	685	c.430G>A	c.(430-432)Ggc>Agc	p.G144S		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	144	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGTTTACGCCGAAATCATCT	0.428													C|||	1	0.000264901	0.0	0.0	3775	,	,		16244	0.001		0.0	False		,,,				2504	0.0					uc004dba.3		NA																	0				ovary(1)|breast(1)	2						c.(430-432)GGC>AGC		kelch-like 15							102.0	76.0	85.0					X																	24024381		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024381C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.430G>A	X.37:g.24024381C>T	ENSP00000332791:p.Gly144Ser						p.G144S	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			3	686	-			144			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.430G>A	CCDS35217.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.32	1.317908	0.23994	.	.	ENSG00000174010	ENST00000328046	T	0.73575	-0.76	5.51	5.51	0.81932	BTB/Kelch-associated (1);	0.042467	0.85682	D	0.000000	T	0.45337	0.1337	N	0.01048	-1.04	0.47584	D	0.999467	B	0.02656	0.0	B	0.04013	0.001	T	0.46938	-0.9155	10	0.30078	T	0.28	.	11.9353	0.52870	0.0:0.9186:0.0:0.0814	.	144	Q96M94	KLH15_HUMAN	S	144	ENSP00000332791:G144S	ENSP00000332791:G144S	G	-	1	0	KLHL15	23934302	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	4.357000	0.59436	2.301000	0.77427	0.544000	0.68410	GGC		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		13	18	0	0	0	0	13	18				
MAGED1	9500	broad.mit.edu	37	X	51640125	51640125	+	Silent	SNP	G	G	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:51640125G>A	ENST00000375722.1	+	4	1626	c.1374G>A	c.(1372-1374)caG>caA	p.Q458Q	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.Q514Q|MAGED1_ENST00000375772.3_Silent_p.Q458Q|MAGED1_ENST00000326587.7_Silent_p.Q458Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	458					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTGCCTCACAGAACCCAGGTG	0.577										Multiple Myeloma(10;0.10)																												uc004dpm.2		NA																	0				ovary(3)	3						c.(1372-1374)CAG>CAA		melanoma antigen family D, 1 isoform b							36.0	25.0	29.0					X																	51640125		2203	4300	6503	SO:0001819	synonymous_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640125G>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1374G>A	X.37:g.51640125G>A		Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Silent_p.Q514Q|MAGED1_uc004dpo.2_Silent_p.Q458Q	p.Q458Q	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			4	1469	+	Ovarian(276;0.236)		458					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.1374G>A	CCDS14337.1																																																																																				0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		4	19	0	0	0	0	4	19				
MTMR8	55613	broad.mit.edu	37	X	63579362	63579362	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chrX:63579362C>T	ENST00000374852.3	-	2	137	c.70G>A	c.(70-72)Gct>Act	p.A24T	MTMR8_ENST00000453546.1_Missense_Mutation_p.A24T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	24						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATCCCATTAGCTGGTTTCTTA	0.408																																						uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(70-72)GCT>ACT		myotubularin related protein 8							133.0	119.0	124.0					X																	63579362		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63579362C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.70G>A	X.37:g.63579362C>T	ENSP00000363985:p.Ala24Thr					MTMR8_uc011mou.1_Missense_Mutation_p.A24T|MTMR8_uc004dvt.1_Missense_Mutation_p.A24T	p.A24T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			2	138	-			24					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.70G>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265555	0.40095	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.82255	-1.59;-1.59	3.39	1.53	0.23141	.	0.000000	0.45867	U	0.000328	T	0.69151	0.3079	N	0.25380	0.74	0.32170	N	0.581814	B;B	0.25390	0.027;0.125	B;B	0.24006	0.01;0.05	T	0.64939	-0.6289	10	0.72032	D	0.01	.	5.848	0.18677	0.0:0.6847:0.1935:0.1218	.	24;24	B4DQL0;Q96EF0	.;MTMR8_HUMAN	T	24;24;23	ENSP00000394003:A24T;ENSP00000363985:A24T	ENSP00000247400:A23T	A	-	1	0	MTMR8	63496087	0.972000	0.33761	0.829000	0.32907	0.993000	0.82548	1.144000	0.31565	0.019000	0.15079	0.506000	0.49869	GCT		0.408	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		14	18	0	0	0	0	14	18				
PIGK	10026	broad.mit.edu	37	1	77558060	77558061	+	Stop_Codon_Ins	INS	-	-	A			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr1:77558060_77558061insA	ENST00000370812.3	-	0	1209_1210				PIGK_ENST00000445065.1_Stop_Codon_Ins|PIGK_ENST00000370813.5_Stop_Codon_Ins	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K						attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TCATCAAGTCTAAAAAATGAAC	0.327																																						uc001dhk.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1186-1188)TAGfs		phosphatidylinositol glycan anchor biosynthesis,																																				SO:0001567	stop_retained_variant	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77558060_77558061insA	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.1187dupT	1.37:g.77558066_77558066dupA	ENSP00000359848:p.*396Leuext*16					PIGK_uc010orj.1_Frame_Shift_Ins_p.*320fs|PIGK_uc009wbx.2_Frame_Shift_Ins_p.*302fs	p.*396fs	NM_005482	NP_005473	Q92643	GPI8_HUMAN			11	1231_1232	-			396					B2R7K3|B4E2M3|O14822|Q5TG77	Frame_Shift_Ins	INS	ENST00000370812.3	37	c.1186_1187insT	CCDS674.1																																																																																				0.327	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		8	58	NA	NA	NA	NA	8	58	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr10:135438960delC	ENST00000425520.1	-	4	532	c.480delG	c.(478-480)aggfs	p.R160fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.R161fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557																																						uc010qvg.1		NA																	0					0						c.(478-480)AGGfs		FSHD region gene 2 family, member B							117.0	141.0	133.0					10																	135438960		2195	4299	6494	SO:0001589	frameshift_variant	441581					nucleus		g.chr10:135438960delC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.480delG	10.37:g.135438960delC	ENSP00000401310:p.Arg160fs						p.R160fs	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	533	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	160					Q5VSQ1	Frame_Shift_Del	DEL	ENST00000425520.1	37	c.480delG	CCDS44502.1																																																																																				0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		7	250	NA	NA	NA	NA	7	250	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609																																						uc001vql.2		NA																	0				skin(1)	1						c.(607-609)GACfs		family with sequence similarity 155, member A																																				SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518337_108518338insC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.608dupG	13.37:g.108518344_108518344dupC	ENSP00000365080:p.Asp203fs						p.D203fs	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1123_1124	-			203					B2RUV1|B7Z334	Frame_Shift_Ins	INS	ENST00000375915.2	37	c.607_608insG	CCDS32006.1																																																																																				0.609	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		26	143	NA	NA	NA	NA	26	143	---	---	---	---
ATP6V0D1	9114	broad.mit.edu	37	16	67472541	67472543	+	In_Frame_Del	DEL	AGA	AGA	-	rs374496626		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr16:67472541_67472543delAGA	ENST00000290949.3	-	8	1094_1096	c.944_946delTCT	c.(943-948)ttctat>tat	p.F315del	ATP6V0D1_ENST00000602876.1_In_Frame_Del_p.F238del|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_In_Frame_Del_p.F356del	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	315					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ACGAAGGCATAGAAGACACCAAA	0.552																																						uc002ete.1		NA																	0					0						c.(943-948)TTCTAT>TAT		ATPase, H+ transporting, lysosomal, V0 subunit																																				SO:0001651	inframe_deletion	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472541_67472543delAGA	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.944_946delTCT	16.37:g.67472544_67472546delAGA	ENSP00000290949:p.Phe315del					ATP6V0D1_uc010vjo.1_In_Frame_Del_p.F356del|ATP6V0D1_uc010vjn.1_In_Frame_Del_p.F238del	p.F315del	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1044_1046	-		Ovarian(137;0.0563)	315					P12953|Q02547	In_Frame_Del	DEL	ENST00000290949.3	37	c.944_946delTCT	CCDS10838.1																																																																																				0.552	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		13	105	NA	NA	NA	NA	13	105	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-CR-7401-01A-11D-2012-08	TCGA-CR-7401-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f8d6968c-2648-4dcf-a0da-77e46878581c	53ddf2bb-b744-450f-8c57-0ec68c17fc4e	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						uc003ikv.2		NA																	0				breast(1)	1						c.(163-168)insGGC		Brn3b POU domain transcription factor																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup						p.68_69insG	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		68_69					B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		8	17	NA	NA	NA	NA	8	17	---	---	---	---
