#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLITRK1	114798	broad.mit.edu	37	13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:84455509T>C	ENST00000377084.2	-	1	1019	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	45	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463																																						uc001vlk.3																			1	Deletion - Frameshift(1)	p.K45fs*64(2)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(133-135)aAg>aGg		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							90.0	89.0	89.0					13																	84455509		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455509T>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.134A>G	13.37:g.84455509T>C	ENSP00000366288:p.Lys45Arg						p.K45R	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1020	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	45			LRRNT.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.134A>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	3.734	-0.054985	0.07362	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.59	4.59	0.56863	.	0.103397	0.64402	D	0.000003	T	0.26810	0.0656	N	0.10809	0.05	0.41694	D	0.989363	B	0.09022	0.002	B	0.16722	0.016	T	0.09997	-1.0649	10	0.09338	T	0.73	-14.5951	13.2304	0.59941	0.0:0.0:0.0:1.0	.	45	Q96PX8	SLIK1_HUMAN	R	45	ENSP00000366288:K45R	ENSP00000366288:K45R	K	-	2	0	SLITRK1	83353510	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.889000	0.48601	2.050000	0.60909	0.459000	0.35465	AAG		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		3	107	0	0	0	1	0	3	107				
PLXNB1	5364	broad.mit.edu	37	3	48453906	48453906	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr3:48453906G>C	ENST00000358536.4	-	26	5247	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1660					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCACTGAGCAGAGTGCGG	0.607																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4978-4980)Ctc>Gtc		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							69.0	65.0	66.0					3																	48453906		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453906G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4978C>G	3.37:g.48453906G>C	ENSP00000351338:p.Leu1660Val					PLXNB1_uc003cst.2_Missense_Mutation_p.L110V|PLXNB1_uc003csu.2_Missense_Mutation_p.L1477V|PLXNB1_uc003csx.2_Missense_Mutation_p.L1660V	p.L1660V	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5248	-			1660					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4978C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177140	0.78564	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.03	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.972;1.0	T	0.50964	-0.8765	10	0.62326	D	0.03	.	12.7462	0.57283	0.0792:0.0:0.9208:0.0	.	1660;1477	O43157;O43157-2	PLXB1_HUMAN;.	V	1660;1477;1660;271;1477	ENSP00000296440:L1660V;ENSP00000351242:L1477V;ENSP00000351338:L1660V;ENSP00000389320:L271V;ENSP00000414199:L1477V	ENSP00000296440:L1660V	L	-	1	0	PLXNB1	48428910	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.503000	0.66962	1.340000	0.45581	0.551000	0.68910	CTC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		38	113	0	0	0	1	0	38	113				
HMOX2	3163	broad.mit.edu	37	16	4558163	4558163	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr16:4558163G>C	ENST00000570646.1	+	4	1259	c.654G>C	c.(652-654)agG>agC	p.R218S	HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S|HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	218					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAAAGAGAGGATCGTGGAGG	0.522																																						uc010bts.3																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(652-654)agG>agC		Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	NADH(DB00157)						84.0	79.0	81.0					16																	4558163		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4558163G>C		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.654G>C	16.37:g.4558163G>C	ENSP00000459214:p.Arg218Ser					HMOX2_uc002cwr.4_Missense_Mutation_p.R218S|HMOX2_uc002cwq.4_Missense_Mutation_p.R218S|HMOX2_uc010btt.3_Missense_Mutation_p.R218S|HMOX2_uc002cwt.3_Missense_Mutation_p.R218S	p.R218S	NM_001127206	NP_002125	P30519	HMOX2_HUMAN			3	825	+			218					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.654G>C	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150719	0.37923	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.57	0.912	0.19349	Haem oxygenase-like, multi-helical (2);	0.254184	0.50627	D	0.000117	T	0.20047	0.0482	L	0.37466	1.105	0.36530	D	0.870669	B;B	0.23249	0.082;0.082	B;B	0.33620	0.167;0.167	T	0.10359	-1.0633	10	0.48119	T	0.1	-6.8957	6.6766	0.23098	0.319:0.1253:0.5557:0.0	.	218;218	B3KSE0;P30519	.;HMOX2_HUMAN	S	218	ENSP00000385100:R218S;ENSP00000394103:R218S;ENSP00000219700:R218S;ENSP00000391637:R218S;ENSP00000381595:R218S	ENSP00000219700:R218S	R	+	3	2	HMOX2	4498164	1.000000	0.71417	0.643000	0.29450	0.975000	0.68041	1.731000	0.38135	0.328000	0.23435	-0.258000	0.10820	AGG		0.522	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			29	65	0	0	0	1	0	29	65				
WDR35	57539	broad.mit.edu	37	2	20132156	20132156	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:20132156G>T	ENST00000345530.3	-	24	2859	c.2744C>A	c.(2743-2745)tCt>tAt	p.S915Y	WDR35_ENST00000281405.4_Missense_Mutation_p.S904Y|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	915					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTAACAGAGATCCAATTTC	0.348																																						uc002rdi.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2743-2745)tCt>tAt		Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.							113.0	111.0	112.0					2																	20132156		2203	4297	6500	SO:0001583	missense	57539							g.chr2:20132156G>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2744C>A	2.37:g.20132156G>T	ENSP00000314444:p.Ser915Tyr					WDR35_uc002rdj.3_Missense_Mutation_p.S904Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron	p.S915Y	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			23	2852	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		915					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2744C>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202922	0.79127	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.26660	1.72;1.72	5.16	4.28	0.50868	.	0.160158	0.64402	D	0.000020	T	0.35219	0.0924	L	0.59436	1.845	0.80722	D	1	P;B	0.37997	0.614;0.009	P;B	0.46026	0.501;0.017	T	0.17837	-1.0356	10	0.62326	D	0.03	-5.1286	13.0753	0.59083	0.0781:0.0:0.9219:0.0	.	904;915	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	915;904	ENSP00000314444:S915Y;ENSP00000281405:S904Y	ENSP00000281405:S904Y	S	-	2	0	WDR35	19995637	1.000000	0.71417	0.950000	0.38849	0.989000	0.77384	9.737000	0.98831	1.318000	0.45170	0.655000	0.94253	TCT		0.348	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		4	88	0	0	0	1	0	4	88				
SEC63	11231	broad.mit.edu	37	6	108230223	108230223	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:108230223C>T	ENST00000369002.4	-	8	820	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	214	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCGTATTGAGCGATACCACCA	0.363																																						uc003psc.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(640-642)cGc>cAc		Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.							85.0	83.0	84.0					6																	108230223		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108230223C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.641G>A	6.37:g.108230223C>T	ENSP00000357998:p.Arg214His					SEC63_uc003psb.4_Missense_Mutation_p.R74H	p.R214H	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	7	910	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	214			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.641G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499092	0.85069	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.77620	-1.11;-0.14	5.11	5.11	0.69529	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.971	D;P	0.65684	0.937;0.714	T	0.81788	-0.0772	10	0.49607	T	0.09	-5.7878	11.9685	0.53049	0.0:0.9204:0.0:0.0796	.	214;214	Q9UGP8;B3KQF0	SEC63_HUMAN;.	H	214;74;158	ENSP00000357998:R214H;ENSP00000403144:R158H	ENSP00000357998:R214H	R	-	2	0	SEC63	108336916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.386000	0.81285	0.557000	0.71058	CGC		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		3	32	0	0	0	1	0	3	32				
VCAN	1462	broad.mit.edu	37	5	82816691	82816691	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:82816691C>G	ENST00000265077.3	+	7	3131	c.2566C>G	c.(2566-2568)Ctt>Gtt	p.L856V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L856V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L808V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	856	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAATTTACTCTTATTCCAGA	0.408																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2566-2568)Ctt>Gtt		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							99.0	101.0	101.0					5																	82816691		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816691C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2566C>G	5.37:g.82816691C>G	ENSP00000265077:p.Leu856Val					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L856V|VCAN_uc003kik.3_Intron	p.L856V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	2922	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	856			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2566C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.532058	0.00145	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.95	1.96	0.26148	.	1.078290	0.07118	N	0.843383	T	0.16342	0.0393	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.18610	0.029;0.024	B;B	0.18561	0.013;0.022	T	0.36625	-0.9740	10	0.02654	T	1	.	9.2158	0.37346	0.0:0.5019:0.4202:0.0779	.	856;856	P13611-3;P13611	.;CSPG2_HUMAN	V	856;856;808	ENSP00000265077:L856V;ENSP00000342768:L856V;ENSP00000425959:L808V	ENSP00000265077:L856V	L	+	1	0	VCAN	82852447	0.001000	0.12720	0.023000	0.16930	0.146000	0.21551	0.110000	0.15437	0.380000	0.24823	0.650000	0.86243	CTT		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		40	84	0	0	0	1	0	40	84				
ARFIP2	23647	broad.mit.edu	37	11	6499070	6499070	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:6499070G>C	ENST00000254584.2	-	7	831	c.748C>G	c.(748-750)Cgg>Ggg	p.R250G	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	250	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGCATCCCGGGGGCCTAGA	0.572																																					Melanoma(119;796 1674 9049 20480 24794)	uc010ran.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(847-849)Cgg>Ggg		Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.							71.0	71.0	71.0					11																	6499070		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499070G>C	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.748C>G	11.37:g.6499070G>C	ENSP00000254584:p.Arg250Gly					ARFIP2_uc001mdk.3_Missense_Mutation_p.R250G|ARFIP2_uc010ral.2_Missense_Mutation_p.R212G|ARFIP2_uc010ram.2_Missense_Mutation_p.R165G	p.R283G	NM_001242854	NP_001229783	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1138	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	250			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.847C>G	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243019	0.58995	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.74	4.74	0.60224	Arfaptin-like (3);	0.052422	0.85682	D	0.000000	D	0.86969	0.6061	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;D	0.79784	0.993;0.94;0.985	D	0.85790	0.1367	10	0.33940	T	0.23	.	16.668	0.85258	0.0:0.0:1.0:0.0	.	283;165;250	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	G	250;250;165;212	ENSP00000254584:R250G;ENSP00000379998:R250G;ENSP00000391427:R165G;ENSP00000398375:R212G	ENSP00000254584:R250G	R	-	1	2	ARFIP2	6455646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.241000	0.72369	2.472000	0.83506	0.655000	0.94253	CGG		0.572	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		3	123	0	0	0	1	0	3	123				
RBM27	54439	broad.mit.edu	37	5	145649072	145649072	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:145649072G>T	ENST00000265271.5	+	17	2782	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N	RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	872					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGAGAAGATCTCACAAT	0.299																																						uc003lnz.4																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2614-2616)aaG>aaT		Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.							76.0	71.0	72.0					5																	145649072		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	g.chr5:145649072G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2616G>T	5.37:g.145649072G>T	ENSP00000265271:p.Lys872Asn					RBM27_uc003lny.2_Missense_Mutation_p.K817N	p.K872N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2782	+			872					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2616G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931221	0.34096	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.78	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.42245	1.32	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.48559	-0.9025	10	0.18276	T	0.48	-15.821	6.5703	0.22535	0.3546:0.0:0.6454:0.0	.	872	Q9P2N5	RBM27_HUMAN	N	872	ENSP00000265271:K872N	ENSP00000265271:K872N	K	+	3	2	RBM27	145629265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	1.452000	0.47756	0.655000	0.94253	AAG		0.299	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		3	47	0	0	0	1	0	3	47				
WDR45B	56270	broad.mit.edu	37	17	80574465	80574465	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:80574465T>C	ENST00000392325.4	-	9	1057	c.863A>G	c.(862-864)aAg>aGg	p.K288R	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	288																	AACCTGAAACTTGGAGAAACT	0.493																																						uc002kfq.3																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12						c.(862-864)aAg>aGg		Homo sapiens WDR45-like (WDR45L), mRNA.							116.0	115.0	115.0					17																	80574465		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80574465T>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.863A>G	17.37:g.80574465T>C	ENSP00000376139:p.Lys288Arg					WDR45L_uc002kfr.3_Non-coding_Transcript	p.K288R	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		8	1058	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	288					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.863A>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423489	0.43020	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.77750	-1.12	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045892	0.85682	D	0.000000	T	0.62804	0.2458	N	0.17345	0.48	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.58239	-0.7671	10	0.15066	T	0.55	-10.5632	15.1078	0.72334	0.0:0.0:0.0:1.0	.	288	Q5MNZ6	WIPI3_HUMAN	R	288;260	ENSP00000376139:K288R	ENSP00000376139:K288R	K	-	2	0	WDR45L	78167754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.724000	0.68500	1.981000	0.57761	0.460000	0.39030	AAG		0.493	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		3	101	0	0	0	1	0	3	101				
AKNA	80709	broad.mit.edu	37	9	117099483	117099483	+	Missense_Mutation	SNP	C	C	A	rs375161600		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr9:117099483C>A	ENST00000307564.4	-	22	4332	c.4171G>T	c.(4171-4173)Gac>Tac	p.D1391Y	AKNA_ENST00000223791.3_Missense_Mutation_p.D851Y|AKNA_ENST00000374079.4_Missense_Mutation_p.D336Y|AKNA_ENST00000374088.3_Missense_Mutation_p.D1391Y|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.D1310Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1391					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCGCCCAGGTCGAGCTGGATG	0.672																																						uc004biq.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4171-4173)Gac>Tac		Homo sapiens AT-hook transcription factor (AKNA), mRNA.							41.0	43.0	43.0					9																	117099483		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099483C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4171G>T	9.37:g.117099483C>A	ENSP00000303769:p.Asp1391Tyr					AKNA_uc004bin.3_Missense_Mutation_p.D638Y|AKNA_uc004bio.3_Missense_Mutation_p.D851Y|AKNA_uc004bip.3_Missense_Mutation_p.D1310Y|AKNA_uc004bir.3_Missense_Mutation_p.D1391Y|AKNA_uc004bis.3_Missense_Mutation_p.D1391Y|AKNA_uc010mve.2_Missense_Mutation_p.D1272Y	p.D1391Y	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			20	4306	-			1391					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4171G>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961501	0.18583	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.25085	2.37;1.82;2.37;2.13;2.36	5.13	0.0869	0.14448	.	.	.	.	.	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B;B	0.34372	0.451;0.399	B;B	0.41691	0.257;0.364	T	0.30208	-0.9986	9	0.66056	D	0.02	-0.8336	5.0518	0.14513	0.0:0.4736:0.2818:0.2446	.	1391;1310	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Y	1391;336;1391;851;1310	ENSP00000303769:D1391Y;ENSP00000363192:D336Y;ENSP00000363201:D1391Y;ENSP00000223791:D851Y;ENSP00000363188:D1310Y	ENSP00000223791:D851Y	D	-	1	0	AKNA	116139304	0.010000	0.17322	0.001000	0.08648	0.040000	0.13550	0.679000	0.25291	-0.278000	0.09180	-2.285000	0.00268	GAC		0.672	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		3	80	0	0	0	1	0	3	80				
MYC	4609	broad.mit.edu	37	8	128752882	128752882	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:128752882T>C	ENST00000377970.2	+	3	1553	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	MYC_ENST00000524013.1_Missense_Mutation_p.L347P	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	333					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GTCAGAGTCCTGAGACAGATC	0.572		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																	uc003ysi.3		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1042-1044)cTg>cCg		Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.							92.0	80.0	84.0					8																	128752882		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752882T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1043T>C	8.37:g.128752882T>C	ENSP00000367207:p.Leu348Pro						p.L348P	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	1568	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	333					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1043T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743547	0.69418	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.098604	0.40818	N	0.001014	T	0.37046	0.0989	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.1244	14.5824	0.68300	0.0:0.0:0.0:1.0	.	333	P01106	MYC_HUMAN	P	348;347;314	ENSP00000367207:L348P;ENSP00000430235:L347P	ENSP00000367207:L348P	L	+	2	0	MYC	128822064	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.196000	0.77805	2.038000	0.60285	0.528000	0.53228	CTG		0.572	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			3	77	0	0	0	1	0	3	77				
KAAG1	353219	broad.mit.edu	37	6	24358038	24358038	+	Silent	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:24358038C>T	ENST00000274766.1	+	1	908	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	57					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTCCGCTGTCCCAGCGGCCTC	0.672																																						uc003ndz.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(169-171)tcC>tcT		Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.							25.0	28.0	27.0					6																	24358038		2201	4291	6492	SO:0001819	synonymous_variant	353219				immune response			g.chr6:24358038C>T	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.171C>T	6.37:g.24358038C>T						DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_5'UTR	p.S57S	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN			0	908	+			57						Silent	SNP	ENST00000274766.1	37	c.171C>T	CCDS4551.1																																																																																				0.672	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			5	47	0	0	0	1	0	5	47				
LRRC55	219527	broad.mit.edu	37	11	56950058	56950058	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:56950058C>G	ENST00000497933.1	+	1	838	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	201	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTACCGGGGCTGGTGACCCT	0.642																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(691-693)Ctg>Gtg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							79.0	77.0	78.0					11																	56950058		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950058C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.691C>G	11.37:g.56950058C>G	ENSP00000419542:p.Leu231Val						p.L231V	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			0	838	+			201			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.691C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652906	0.67472	.	.	ENSG00000183908	ENST00000497933	T	0.06449	3.3	5.77	4.86	0.63082	.	0.000000	0.46758	D	0.000279	T	0.33030	0.0849	M	0.92507	3.315	0.47341	D	0.999395	D	0.89917	1.0	D	0.83275	0.996	T	0.41787	-0.9489	10	0.87932	D	0	.	13.605	0.62041	0.0:0.9247:0.0:0.0753	.	201	Q6ZSA7	LRC55_HUMAN	V	231	ENSP00000419542:L231V	ENSP00000419542:L231V	L	+	1	2	LRRC55	56706634	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.803000	0.47924	1.441000	0.47550	0.561000	0.74099	CTG		0.642	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		72	138	0	0	0	1	0	72	138				
TANC1	85461	broad.mit.edu	37	2	160087162	160087162	+	Missense_Mutation	SNP	G	G	A	rs527832498		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:160087162G>A	ENST00000263635.6	+	27	5462	c.5225G>A	c.(5224-5226)cGc>cAc	p.R1742H	TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1742					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCCAAGCCGCAGCTGGCAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19402	0.001		0.0	False		,,,				2504	0.0					uc002uag.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5224-5226)cGc>cAc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.							74.0	83.0	80.0					2																	160087162		2066	4203	6269	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087162G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5225G>A	2.37:g.160087162G>A	ENSP00000263635:p.Arg1742His					TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.R586H	p.R1742H	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			26	5499	+			1742					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5225G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329954	0.60743	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.78364	-1.16;-1.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.64997	1.995	0.54753	D	0.999982	D	0.59767	0.986	B	0.43623	0.425	T	0.78409	-0.2215	9	.	.	.	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	1742	Q9C0D5	TANC1_HUMAN	H	1636;1742	ENSP00000396339:R1636H;ENSP00000263635:R1742H	.	R	+	2	0	TANC1	159795408	1.000000	0.71417	0.373000	0.26003	0.100000	0.18952	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	CGC		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	150	0	0	0	1	0	4	150				
DYNC1H1	1778	broad.mit.edu	37	14	102509075	102509075	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr14:102509075G>A	ENST00000360184.4	+	69	12667	c.12503G>A	c.(12502-12504)cGg>cAg	p.R4168Q	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCGTCTCACGGATATGCAAG	0.577																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12502-12504)cGg>cAg		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							100.0	75.0	83.0					14																	102509075		2203	4300	6503	SO:0001583	missense	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509075G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12503G>A	14.37:g.102509075G>A	ENSP00000348965:p.Arg4168Gln						p.R4168Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			68	12667	+			4168			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12503G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473699	0.84640	.	.	ENSG00000197102	ENST00000360184	T	0.09073	3.02	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	P	0.58266	0.836	T	0.01056	-1.1466	10	0.21540	T	0.41	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	4168	Q14204	DYHC1_HUMAN	Q	4168	ENSP00000348965:R4168Q	ENSP00000348965:R4168Q	R	+	2	0	DYNC1H1	101578828	1.000000	0.71417	0.039000	0.18376	0.780000	0.44128	9.776000	0.99001	2.884000	0.98904	0.655000	0.94253	CGG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	45	0	0	0	1	0	35	45				
WNK1	65125	broad.mit.edu	37	12	994570	994570	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr12:994570C>G	ENST00000315939.6	+	19	5243	c.4600C>G	c.(4600-4602)Cat>Gat	p.H1534D	WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000537687.1_Missense_Mutation_p.H1794D|WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1534					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483																																					Colon(19;451 567 6672 12618 28860)	uc021qss.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5380-5382)Cat>Gat		Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.							425.0	378.0	394.0					12																	994570		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994570C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4600C>G	12.37:g.994570C>G	ENSP00000313059:p.His1534Asp					WNK1_uc001qio.4_Missense_Mutation_p.H1534D|WNK1_uc021qst.1_Missense_Mutation_p.H1786D|WNK1_uc001qip.4_Missense_Mutation_p.H1287D|WNK1_uc001qir.4_Missense_Mutation_p.H707D	p.H1794D	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	6023	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1534					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5380C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439738	0.12104	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.3	2.22	0.28083	.	0.611588	0.16305	N	0.220291	T	0.36413	0.0966	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.23547	-1.0185	10	0.39692	T	0.17	-3.4467	8.0376	0.30502	0.0:0.6162:0.2443:0.1396	.	1287;1287;1534	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1287;1534;1794;707;2032;1127	ENSP00000441972:H1287D;ENSP00000313059:H1534D;ENSP00000444465:H1794D;ENSP00000433548:H2032D;ENSP00000341292:H1127D	ENSP00000252477:H707D	H	+	1	0	WNK1	864831	0.001000	0.12720	0.458000	0.27068	0.330000	0.28571	0.559000	0.23485	0.695000	0.31675	0.655000	0.94253	CAT		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	689	0	0	0	1	0	7	689				
PLCD3	113026	broad.mit.edu	37	17	43197710	43197710	+	Silent	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:43197710G>A	ENST00000322765.5	-	4	779	c.666C>T	c.(664-666)taC>taT	p.Y222Y	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	222	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGAGGTAGGCGTACATGTCGT	0.577																																						uc002iib.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(664-666)taC>taT		Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	Phosphatidylserine(DB00144)						132.0	143.0	139.0					17																	43197710		2188	4286	6474	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43197710G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.666C>T	17.37:g.43197710G>A							p.Y222Y	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			3	780	-			222			EF-hand 2.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.666C>T																																																																																					0.577	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	30	0	0	0	1	0	3	30				
DOCK7	85440	broad.mit.edu	37	1	63113974	63113974	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr1:63113974G>A	ENST00000340370.5	-	6	552	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DOCK7_ENST00000251157.5_Missense_Mutation_p.R179C|DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	179					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GACATTGAACGTCTTTTAAGG	0.299																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(535-537)Cgt>Tgt		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							46.0	47.0	47.0					1																	63113974		2190	4294	6484	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	g.chr1:63113974G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.535C>T	1.37:g.63113974G>A	ENSP00000340742:p.Arg179Cys					DOCK7_uc001dan.3_Missense_Mutation_p.R71C|DOCK7_uc001dao.3_Missense_Mutation_p.R71C|DOCK7_uc001dap.3_Missense_Mutation_p.R179C|DOCK7_uc009wah.1_Missense_Mutation_p.R179C	p.R179C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			5	569	-			179					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.535C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620921	0.28889	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.21361	2.42;2.42;2.01	4.53	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B	0.19706	0.038;0.018;0.012;0.021;0.023	B;B;B;B;B	0.12837	0.006;0.004;0.008;0.008;0.008	T	0.14062	-1.0486	10	0.45353	T	0.12	.	13.9696	0.64230	0.0:0.0:0.8481:0.1519	.	179;179;179;179;179	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	C	179	ENSP00000251157:R179C;ENSP00000340742:R179C;ENSP00000384446:R179C	ENSP00000251157:R179C	R	-	1	0	DOCK7	62886562	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.770000	0.47662	2.333000	0.79357	0.462000	0.41574	CGT		0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		25	74	0	0	0	1	0	25	74				
RIMS2	9699	broad.mit.edu	37	8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:105261745A>G	ENST00000436393.2	+	26	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1021R|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1269					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGACAAAAAGGGACAGCTG	0.403										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3673-3675)aAg>aGg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							72.0	75.0	74.0					8																	105261745		1864	4087	5951	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	g.chr8:105261745A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3674A>G	8.37:g.105261745A>G	ENSP00000390665:p.Lys1225Arg	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.K1207R|RIMS2_uc003ylw.2_Missense_Mutation_p.K1214R|RIMS2_uc003ylq.3_Missense_Mutation_p.K1021R|RIMS2_uc003ylr.3_Missense_Mutation_p.K1046R	p.K1225R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		25	3915	+			1269					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3674A>G		.	.	.	.	.	.	.	.	.	.	A	25.6	4.654243	0.88056	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;0.99;-1.01;-1.01;-1.01	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80768	0.4686	L	0.28192	0.835	0.80722	D	1	P;P;B;D;D	0.53312	0.709;0.839;0.287;0.959;0.959	B;P;P;D;D	0.67382	0.284;0.836;0.651;0.951;0.951	T	0.80589	-0.1315	9	0.38643	T	0.18	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1269;1225;1046;1021;1207	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	R	1244;1207;1269;1046;1021;1214;1225;143;143	ENSP00000384892:K1207R;ENSP00000262231:K1046R;ENSP00000423559:K1021R;ENSP00000386228:K1214R;ENSP00000390665:K1225R;ENSP00000428478:K143R;ENSP00000342051:K143R	ENSP00000262231:K1046R	K	+	2	0	RIMS2	105330921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.306000	0.78905	2.142000	0.66516	0.528000	0.53228	AAG		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		3	81	0	0	0	1	0	3	81				
PDZD7	79955	broad.mit.edu	37	10	102778754	102778754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr10:102778754delC	ENST00000370215.3	-	8	1374	c.1149delG	c.(1147-1149)tggfs	p.W383fs		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	383						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCACGCTGCACCAGGTCTCCA	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021pxc.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1147-1149)tggfs		Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 1, mRNA.							9.0	12.0	11.0					10																	102778754		2169	4257	6426	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102778754delC	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1149delG	10.37:g.102778754delC	ENSP00000359234:p.Trp383fs		OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369	PDZD7_uc001ksn.3_Frame_Shift_Del_p.W383fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.W383fs	p.W383fs	NM_001195263	NP_001182192	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	7	1399	-			383					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.1149delG	CCDS31269.1																																																																																				0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		2	4						2	4	---	---	---	---
