#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
KIF1B	23095	broad.mit.edu	37	1	10356659	10356659	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:10356659C>T	ENST00000377086.1	+	20	1999	c.1797C>T	c.(1795-1797)ccC>ccT	p.P599P	KIF1B_ENST00000377093.4_Silent_p.P553P|KIF1B_ENST00000377081.1_Silent_p.P599P|RNU6-37P_ENST00000362692.1_RNA|KIF1B_ENST00000263934.6_Silent_p.P553P|KIF1B_ENST00000377083.1_Silent_p.P553P			O60333	KIF1B_HUMAN	kinesin family member 1B	599	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTAGAGCCCTGTGAGCGCT	0.443																																						uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1795-1797)CCC>CCT		kinesin family member 1B isoform b							91.0	85.0	87.0					1																	10356659		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10356659C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1797C>T	1.37:g.10356659C>T						KIF1B_uc001aqv.3_Silent_p.P553P|KIF1B_uc001aqw.3_Silent_p.P553P|KIF1B_uc001aqy.2_Silent_p.P573P|KIF1B_uc001aqz.2_Silent_p.P599P|KIF1B_uc001ara.2_Silent_p.P559P|KIF1B_uc001arb.2_Silent_p.P585P	p.P599P	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	20	1999	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	599			FHA.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.1797C>T																																																																																					0.443	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			17	19	0	0	0	0	17	19				
CLCN6	1185	broad.mit.edu	37	1	11893658	11893658	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:11893658G>A	ENST00000346436.6	+	14	1387	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	CLCN6_ENST00000376496.3_Silent_p.P445P|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.P423P	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	445					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAACCCGCAGGAGTCTG	0.493																																						uc001ate.3		NA																	0					0						c.(1333-1335)CCG>CCA		chloride channel 6 isoform ClC-6a							103.0	89.0	93.0					1																	11893658		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11893658G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1335G>A	1.37:g.11893658G>A						CLCN6_uc010oat.1_Silent_p.P161P|CLCN6_uc010oau.1_Silent_p.P423P	p.P445P	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	14	1448	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	445					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.1335G>A	CCDS138.1																																																																																				0.493	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		19	21	0	0	0	0	19	21				
UBXN10	127733	broad.mit.edu	37	1	20517058	20517058	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:20517058G>A	ENST00000375099.3	+	2	88	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	2										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGAAGCAATGGCCACAGAAGC	0.502																																						uc001bdb.2		NA																	0				ovary(1)	1						c.(4-6)GCC>ACC		UBX domain protein 10							82.0	85.0	84.0					1																	20517058		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517058G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.4G>A	1.37:g.20517058G>A	ENSP00000364240:p.Ala2Thr						p.A2T	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN			2	88	+			2					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.4G>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481393	0.84747	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.1	5.1	0.69264	.	0.000000	0.49916	D	0.000134	T	0.76364	0.3977	M	0.64997	1.995	0.38507	D	0.948378	D	0.89917	1.0	D	0.80764	0.994	T	0.80643	-0.1291	9	0.87932	D	0	-20.6423	15.2163	0.73270	0.0:0.0:1.0:0.0	.	2	Q96LJ8	UBX10_HUMAN	T	2	.	ENSP00000364240:A2T	A	+	1	0	UBXN10	20389645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.456000	0.60081	2.375000	0.81037	0.561000	0.74099	GCC		0.502	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		41	73	0	0	0	0	41	73				
NKAIN1	79570	broad.mit.edu	37	1	31655404	31655404	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:31655404T>G	ENST00000373736.2	-	5	511	c.505A>C	c.(505-507)Aaa>Caa	p.K169Q	NKAIN1_ENST00000398657.2_Missense_Mutation_p.K98Q|NKAIN1_ENST00000263693.1_Missense_Mutation_p.K125Q|NKAIN1_ENST00000528449.1_5'Flank	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGGAACACTTTGCTCACGTAG	0.632																																						uc010ogd.1		NA																	0				ovary(1)	1						c.(505-507)AAA>CAA		Na+/K+ transporting ATPase interacting 1							115.0	103.0	107.0					1																	31655404		2203	4300	6503	SO:0001583	missense	79570					integral to membrane|plasma membrane		g.chr1:31655404T>G	AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"""Na+/K+ transporting ATPase interacting"""	25743	protein-coding gene	gene with protein product		612871	"""family with sequence similarity 77, member C"""	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.505A>C	1.37:g.31655404T>G	ENSP00000362841:p.Lys169Gln					NKAIN1_uc001bsn.2_Missense_Mutation_p.K125Q|NKAIN1_uc010ogc.1_Missense_Mutation_p.K98Q	p.K169Q	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)	5	511	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)	169			Cytoplasmic (Potential).		A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Missense_Mutation	SNP	ENST00000373736.2	37	c.505A>C	CCDS339.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423083	0.83559	.	.	ENSG00000084628	ENST00000373736;ENST00000263693;ENST00000398657	T;T;T	0.14640	2.49;2.49;2.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.58669	1.825	0.58432	D	0.999991	D;D	0.56746	0.977;0.962	P;P	0.60286	0.856;0.872	T	0.01102	-1.1451	10	0.30078	T	0.28	0.3876	13.2474	0.60029	0.0:0.0:0.132:0.868	.	169;98	Q4KMZ8;B7Z5F5	NKAI1_HUMAN;.	Q	169;125;98	ENSP00000362841:K169Q;ENSP00000263693:K125Q;ENSP00000381650:K98Q	ENSP00000263693:K125Q	K	-	1	0	NKAIN1	31427991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.233000	0.73108	0.533000	0.62120	AAA		0.632	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2	NM_024522		19	52	0	0	0	0	19	52				
GRIK3	2899	broad.mit.edu	37	1	37271729	37271729	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:37271729C>T	ENST00000373091.3	-	14	2306	c.2290G>A	c.(2290-2292)Ggc>Agc	p.G764S	GRIK3_ENST00000373093.4_Missense_Mutation_p.G764S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATGCCGTAGCCCTTGGAGTCA	0.667																																						uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2290-2292)GGC>AGC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						153.0	106.0	122.0					1																	37271729		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271729C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2290G>A	1.37:g.37271729C>T	ENSP00000362183:p.Gly764Ser					GRIK3_uc001cba.1_Missense_Mutation_p.G764S	p.G764S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2425	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	764			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2290G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114397	0.94339	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.13196	2.61;2.61	5.07	5.07	0.68467	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.42816	-0.9429	10	0.52906	T	0.07	.	18.4408	0.90666	0.0:1.0:0.0:0.0	.	764;764	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	764	ENSP00000362183:G764S;ENSP00000362185:G764S	ENSP00000362183:G764S	G	-	1	0	GRIK3	37044316	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.757000	0.85209	2.367000	0.80283	0.549000	0.68633	GGC		0.667	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		25	45	0	0	0	0	25	45				
SPATA6	54558	broad.mit.edu	37	1	48869550	48869550	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:48869550T>C	ENST00000371847.3	-	6	574	c.410A>G	c.(409-411)aAt>aGt	p.N137S	SPATA6_ENST00000396199.3_Missense_Mutation_p.N65S|SPATA6_ENST00000371843.3_Missense_Mutation_p.N137S|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTTGGAGCATTTCCCTGAGA	0.313																																						uc001crr.1		NA																	0				ovary(1)	1						c.(409-411)AAT>AGT		spermatogenesis associated 6 precursor							38.0	39.0	38.0					1																	48869550		2203	4299	6502	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48869550T>C	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.410A>G	1.37:g.48869550T>C	ENSP00000360913:p.Asn137Ser					SPATA6_uc001crs.1_Missense_Mutation_p.N137S|SPATA6_uc010omv.1_Missense_Mutation_p.N123S|SPATA6_uc001crt.2_Missense_Mutation_p.N29S	p.N137S	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			6	575	-			137					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.410A>G	CCDS551.1	.	.	.	.	.	.	.	.	.	.	T	6.429	0.447336	0.12223	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.10960	2.83;2.82;2.82	5.52	1.93	0.25924	.	0.468179	0.22670	N	0.057080	T	0.04588	0.0125	N	0.08118	0	0.80722	D	1	B;B;B;B	0.14438	0.0;0.01;0.004;0.004	B;B;B;B	0.16722	0.001;0.016;0.011;0.011	T	0.39482	-0.9612	10	0.62326	D	0.03	.	2.0707	0.03613	0.5092:0.143:0.0747:0.2731	.	65;65;137;137	B4DX17;A8MU33;Q9NWH7-2;Q9NWH7	.;.;.;SPAT6_HUMAN	S	137;137;65	ENSP00000360913:N137S;ENSP00000360909:N137S;ENSP00000379502:N65S	ENSP00000360909:N137S	N	-	2	0	SPATA6	48642137	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	2.151000	0.42263	0.070000	0.16634	-2.380000	0.00233	AAT		0.313	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		7	19	0	0	0	0	7	19				
ELAVL4	1996	broad.mit.edu	37	1	50663122	50663122	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:50663122G>A	ENST00000371823.4	+	6	980	c.756G>A	c.(754-756)atG>atA	p.M252I	ELAVL4_ENST00000371821.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000371824.1_Missense_Mutation_p.M252I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.M255I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.M252I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.M269I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	252					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGCTTAATATGGCCTATGGCG	0.403																																						uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(754-756)ATG>ATA		ELAV-like 4 isoform 1							148.0	154.0	152.0					1																	50663122		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50663122G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.756G>A	1.37:g.50663122G>A	ENSP00000360888:p.Met252Ile					ELAVL4_uc001cry.3_Missense_Mutation_p.M255I|ELAVL4_uc001crz.3_Missense_Mutation_p.M252I|ELAVL4_uc001csa.3_Missense_Mutation_p.M269I|ELAVL4_uc001csc.3_Missense_Mutation_p.M252I|ELAVL4_uc009vyu.2_Missense_Mutation_p.M257I|ELAVL4_uc010omz.1_Missense_Mutation_p.M257I	p.M252I	NM_021952	NP_068771	P26378	ELAV4_HUMAN			6	1024	+			252					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.756G>A	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836946	0.50951	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.08984	3.09;3.08;3.07;3.08;3.03;3.03;3.07	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.08758	0.0217	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.002;0.001;0.002;0.002;0.002;0.003;0.001	T	0.34054	-0.9844	10	0.20519	T	0.43	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	257;257;252;252;269;252;255	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	255;252;269;252;252;257;257	ENSP00000399939:M255I;ENSP00000360892:M252I;ENSP00000349594:M269I;ENSP00000360889:M252I;ENSP00000360888:M252I;ENSP00000360886:M257I;ENSP00000360884:M257I	ENSP00000349594:M269I	M	+	3	0	ELAVL4	50435709	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.202000	0.95026	2.941000	0.99782	0.655000	0.94253	ATG		0.403	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		55	109	0	0	0	0	55	109				
ERICH3	127254	broad.mit.edu	37	1	75038685	75038685	+	Silent	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:75038685C>A	ENST00000326665.5	-	14	2927	c.2709G>T	c.(2707-2709)gtG>gtT	p.V903V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		903	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTGCAAGCACTGCCTTCT	0.532																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2707-2709)GTG>GTT		hypothetical protein LOC127254							240.0	236.0	238.0					1																	75038685		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038685C>A																												ENST00000326665.5:c.2709G>T	1.37:g.75038685C>A							p.V903V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2928	-			903			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2709G>T	CCDS30755.1																																																																																				0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			78	171	1	0	1.07e-49	1.18e-49	78	171				
WDR63	126820	broad.mit.edu	37	1	85555914	85555914	+	Splice_Site	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:85555914A>T	ENST00000294664.6	+	8	1036	c.856A>T	c.(856-858)Agt>Tgt	p.S286C	WDR63_ENST00000370596.1_Intron|WDR63_ENST00000326813.8_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	286										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGCATCCATAAGGTAAAAAAT	0.279																																						uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(856-858)AGT>TGT		WD repeat domain 63							28.0	30.0	29.0					1																	85555914		2195	4286	6481	SO:0001630	splice_region_variant	126820							g.chr1:85555914A>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.857+1A>T	1.37:g.85555914A>T						WDR63_uc009wcl.2_Intron	p.S286C	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	8	1047	+			286					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.856A>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	A	8.170	0.791547	0.16258	.	.	ENSG00000162643	ENST00000294664	T	0.45668	0.89	5.6	4.48	0.54585	.	0.211714	0.56097	D	0.000024	T	0.18635	0.0447	L	0.42245	1.32	0.44995	D	0.998014	B	0.02656	0.0	B	0.06405	0.002	T	0.04153	-1.0973	10	0.38643	T	0.18	-12.7321	10.6456	0.45617	0.9248:0.0:0.0752:0.0	.	286	Q8IWG1	WDR63_HUMAN	C	286	ENSP00000294664:S286C	ENSP00000294664:S286C	S	+	1	0	WDR63	85328502	0.999000	0.42202	0.776000	0.31678	0.065000	0.16274	4.094000	0.57721	0.963000	0.38082	-0.326000	0.08463	AGT		0.279	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Missense_Mutation	20	21	0	0	0	0	20	21				
KPRP	448834	broad.mit.edu	37	1	152732834	152732834	+	Missense_Mutation	SNP	C	C	T	rs147534038		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:152732834C>T	ENST00000606109.1	+	1	798	c.770C>T	c.(769-771)cCt>cTt	p.P257L	KPRP_ENST00000368773.1_Missense_Mutation_p.P257L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	257	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGCCTTCCTCCTCCTCGG	0.607																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(769-771)CCT>CTT		keratinocyte proline-rich protein							44.0	51.0	49.0					1																	152732834		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732834C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.770C>T	1.37:g.152732834C>T	ENSP00000475216:p.Pro257Leu						p.P257L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	828	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		257			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.770C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763042	0.31228	.	.	ENSG00000203786	ENST00000368773	T	0.17528	2.27	5.54	5.54	0.83059	.	0.154508	0.30940	N	0.008573	T	0.22166	0.0534	L	0.34521	1.04	0.49582	D	0.999808	D	0.71674	0.998	D	0.68943	0.961	T	0.00756	-1.1579	10	0.87932	D	0	-11.3609	15.3531	0.74405	0.0:1.0:0.0:0.0	.	257	Q5T749	KPRP_HUMAN	L	257	ENSP00000357762:P257L	ENSP00000357762:P257L	P	+	2	0	KPRP	150999458	0.994000	0.37717	0.726000	0.30738	0.051000	0.14879	4.005000	0.57075	2.780000	0.95670	0.561000	0.74099	CCT		0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		32	44	0	0	0	0	32	44				
AXDND1	126859	broad.mit.edu	37	1	179354444	179354444	+	Silent	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:179354444A>G	ENST00000367618.3	+	9	1200	c.813A>G	c.(811-813)cgA>cgG	p.R271R	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.R271R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AACTTATTCGACAAGTCAGTG	0.358																																						uc001gmo.2		NA																	0					0						c.(811-813)CGA>CGG		hypothetical protein LOC126859 isoform 1							169.0	162.0	164.0					1																	179354444		2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179354444A>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.813A>G	1.37:g.179354444A>G						C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Silent_p.R59R|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.R271R	p.R271R	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			9	940	+			271					Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.813A>G	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		57	24	0	0	0	0	57	24				
KCTD3	51133	broad.mit.edu	37	1	215775237	215775237	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:215775237A>G	ENST00000259154.4	+	11	1256	c.962A>G	c.(961-963)tAt>tGt	p.Y321C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	321					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATAACTAGTTATGACACTGCT	0.323																																						uc001hks.2		NA																	0				ovary(3)	3						c.(961-963)TAT>TGT		potassium channel tetramerisation domain							102.0	96.0	98.0					1																	215775237		2203	4298	6501	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215775237A>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.962A>G	1.37:g.215775237A>G	ENSP00000259154:p.Tyr321Cys					KCTD3_uc001hkt.2_Missense_Mutation_p.Y321C|KCTD3_uc010pub.1_Missense_Mutation_p.Y219C|KCTD3_uc009xdn.2_Missense_Mutation_p.Y73C	p.Y321C	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	11	1256	+			321			WD 3.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.962A>G	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721794	0.30503	.	.	ENSG00000136636	ENST00000259154	T	0.06068	3.35	5.65	3.35	0.38373	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051387	0.85682	D	0.000000	T	0.09774	0.0240	M	0.76002	2.32	0.52099	D	0.999942	B;B;B;B	0.24043	0.023;0.016;0.027;0.096	B;B;B;B	0.25614	0.016;0.022;0.022;0.062	T	0.04229	-1.0967	10	0.42905	T	0.14	-12.5708	9.2011	0.37258	0.853:0.0:0.147:0.0	.	73;73;321;321	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	C	321	ENSP00000259154:Y321C	ENSP00000259154:Y321C	Y	+	2	0	KCTD3	213841860	1.000000	0.71417	0.501000	0.27601	0.995000	0.86356	5.778000	0.68940	0.436000	0.26393	0.460000	0.39030	TAT		0.323	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		17	31	0	0	0	0	17	31				
OR1C1	26188	broad.mit.edu	37	1	247921166	247921166	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:247921166G>A	ENST00000408896.2	-	1	816	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	181					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGAGGATTGAGATCACAGA	0.478																																						uc010pza.1		NA																	0				skin(1)	1						c.(541-543)CTC>CTT		olfactory receptor, family 1, subfamily C,							63.0	63.0	63.0					1																	247921166		2106	4245	6351	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921166G>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.543C>T	1.37:g.247921166G>A							p.L181L	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	543	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	181			Extracellular (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.543C>T	CCDS41481.1																																																																																				0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			8	12	0	0	0	0	8	12				
OLAH	55301	broad.mit.edu	37	10	15107610	15107610	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:15107610G>T	ENST00000378228.3	+	6	684	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	OLAH_ENST00000378217.3_Missense_Mutation_p.D197Y|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	144					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CATTCCCAAAGATGATGAATT	0.393																																						uc001inu.2		NA																	0					0						c.(430-432)GAT>TAT		oleoyl-ACP hydrolase isoform 2							66.0	61.0	62.0					10																	15107610		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15107610G>T	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.430G>T	10.37:g.15107610G>T	ENSP00000367473:p.Asp144Tyr					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.D197Y	p.D144Y	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			6	684	+			144					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.430G>T	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	11.27	1.589620	0.28357	.	.	ENSG00000152463	ENST00000429028;ENST00000378228;ENST00000378217	.	.	.	4.95	-4.58	0.03410	Thioesterase (1);	1.274000	0.05098	N	0.486487	T	0.22898	0.0553	L	0.35644	1.08	0.09310	N	1	B;P	0.46327	0.012;0.876	B;B	0.41036	0.01;0.346	T	0.24512	-1.0158	9	0.09590	T	0.72	2.7382	6.721	0.23330	0.6046:0.2527:0.1427:0.0	.	144;197	Q9NV23;Q9NV23-2	SAST_HUMAN;.	Y	144;144;197	.	ENSP00000367462:D197Y	D	+	1	0	OLAH	15147616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.002000	0.03686	-0.658000	0.05366	0.544000	0.68410	GAT		0.393	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		23	33	1	0	2.49e-11	2.68e-11	23	33				
GPR158	57512	broad.mit.edu	37	10	25886968	25886968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:25886968G>A	ENST00000376351.3	+	11	2772	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	805					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCCAAGGAGGAGACCCTGAA	0.542																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2413-2415)GAG>AAG		G protein-coupled receptor 158 precursor							82.0	92.0	88.0					10																	25886968		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886968G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2413G>A	10.37:g.25886968G>A	ENSP00000365529:p.Glu805Lys					GPR158_uc001isk.2_Missense_Mutation_p.E180K	p.E805K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2473	+			805			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2413G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257564	0.80246	.	.	ENSG00000151025	ENST00000376351	T	0.62364	0.03	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000005	T	0.65688	0.2715	L	0.59436	1.845	0.54753	D	0.999982	P	0.38020	0.615	B	0.40602	0.334	T	0.66428	-0.5926	10	0.52906	T	0.07	.	20.0026	0.97425	0.0:0.0:1.0:0.0	.	805	Q5T848	GP158_HUMAN	K	805	ENSP00000365529:E805K	ENSP00000365529:E805K	E	+	1	0	GPR158	25926974	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.476000	0.97823	2.722000	0.93159	0.650000	0.86243	GAG		0.542	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		31	52	0	0	0	0	31	52				
UROS	7390	broad.mit.edu	37	10	127496033	127496033	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:127496033C>T	ENST00000368797.4	-	6	567	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	UROS_ENST00000368778.3_Missense_Mutation_p.E115K|UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368774.1_Missense_Mutation_p.E115K|UROS_ENST00000368786.1_Missense_Mutation_p.E115K	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	115					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GTTTCTCCTTCTGTATCCAGG	0.353																																						uc001liw.3		NA																	0					0						c.(343-345)GAA>AAA		uroporphyrinogen III synthase							121.0	114.0	116.0					10																	127496033		2203	4300	6503	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127496033C>T	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.343G>A	10.37:g.127496033C>T	ENSP00000357787:p.Glu115Lys					UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E115K|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA	p.E115K	NM_000375	NP_000366	P10746	HEM4_HUMAN			5	476	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	115					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.343G>A	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059631	0.19987	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	4.62	2.72	0.32119	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.396982	0.28006	N	0.016975	D	0.83422	0.5251	N	0.25485	0.75	0.19945	N	0.99994	B	0.16166	0.016	B	0.12156	0.007	T	0.68765	-0.5322	10	0.26408	T	0.33	-7.0653	6.6472	0.22941	0.0:0.5546:0.3494:0.096	.	115	P10746	HEM4_HUMAN	K	115;115;87;115;115	ENSP00000357787:E115K;ENSP00000357775:E115K;ENSP00000414833:E87K;ENSP00000357767:E115K;ENSP00000357763:E115K	ENSP00000357763:E115K	E	-	1	0	UROS	127486023	0.927000	0.31430	0.114000	0.21550	0.969000	0.65631	1.489000	0.35562	0.533000	0.28675	-0.140000	0.14226	GAA		0.353	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		14	43	0	0	0	0	14	43				
STK32C	282974	broad.mit.edu	37	10	134036234	134036234	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:134036234T>A	ENST00000368622.1	-	10	1192	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	STK32C_ENST00000368625.4_Missense_Mutation_p.M401L					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCCAGGATCATCTCCTCCAGC	0.627																																						uc001lle.1		NA																	0				large_intestine(2)|lung(2)|breast(1)	5						c.(1162-1164)ATG>TTG		serine/threonine kinase 32C							69.0	64.0	65.0					10																	134036234		2199	4299	6498	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134036234T>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.811A>T	10.37:g.134036234T>A	ENSP00000357611:p.Met271Leu					STK32C_uc001lld.1_Missense_Mutation_p.M271L|STK32C_uc010quu.1_Missense_Mutation_p.M401L|STK32C_uc001llb.2_Missense_Mutation_p.M159L|STK32C_uc001llc.1_RNA	p.M388L	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	10	1302	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	388						Missense_Mutation	SNP	ENST00000368622.1	37	c.1162A>T		.	.	.	.	.	.	.	.	.	.	T	17.56	3.419554	0.62622	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.21932	1.98;1.98;1.98	3.53	3.53	0.40419	.	0.000000	0.85682	U	0.000000	T	0.32526	0.0832	L	0.41415	1.275	0.58432	D	0.999994	D;B;P	0.67145	0.996;0.119;0.826	D;B;P	0.77004	0.989;0.106;0.811	T	0.02860	-1.1101	10	0.20046	T	0.44	.	12.262	0.54655	0.0:0.0:0.0:1.0	.	401;388;271	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	L	271;388;401	ENSP00000357611:M271L;ENSP00000298630:M388L;ENSP00000357614:M401L	ENSP00000298630:M388L	M	-	1	0	STK32C	133886224	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.927000	0.75840	1.487000	0.48415	0.393000	0.25936	ATG		0.627	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		7	6	0	0	0	0	7	6				
PHRF1	57661	broad.mit.edu	37	11	611008	611008	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:611008A>T	ENST00000264555.5	+	17	4860	c.4732A>T	c.(4732-4734)Atc>Ttc	p.I1578F	PHRF1_ENST00000416188.2_Missense_Mutation_p.I1577F|PHRF1_ENST00000533464.1_Missense_Mutation_p.I1574F|PHRF1_ENST00000413872.2_Missense_Mutation_p.I1576F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1578					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGCTGGCCATCAAGCCCTT	0.592																																						uc001lqe.2		NA																	0					0						c.(4732-4734)ATC>TTC		PHD and ring finger domains 1							91.0	94.0	93.0					11																	611008		2202	4300	6502	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:611008A>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4732A>T	11.37:g.611008A>T	ENSP00000264555:p.Ile1578Phe					PHRF1_uc010qwc.1_Missense_Mutation_p.I1577F|PHRF1_uc010qwd.1_Missense_Mutation_p.I1576F|PHRF1_uc010qwe.1_Missense_Mutation_p.I1574F|PHRF1_uc009yca.1_RNA	p.I1578F	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			17	4863	+			1578			Potential.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.4732A>T		.	.	.	.	.	.	.	.	.	.	A	17.21	3.332000	0.60853	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.34	4.34	0.51931	.	0.000000	0.36591	N	0.002510	T	0.78629	0.4313	M	0.78456	2.415	0.52099	D	0.999943	D;D;D;D	0.89917	0.973;0.999;1.0;1.0	D;D;D;D	0.87578	0.921;0.998;0.989;0.975	T	0.82216	-0.0567	10	0.87932	D	0	-27.7151	14.2295	0.65882	1.0:0.0:0.0:0.0	.	1574;1576;1577;1578	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	F	1578;1576;1577;1574	ENSP00000264555:I1578F;ENSP00000388589:I1576F;ENSP00000410626:I1577F;ENSP00000431870:I1574F	ENSP00000264555:I1578F	I	+	1	0	PHRF1	601008	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.222000	0.78025	1.920000	0.55613	0.459000	0.35465	ATC		0.592	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	17	0	0	0	0	9	17				
IGF2	3481	broad.mit.edu	37	11	2154782	2154782	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:2154782C>T	ENST00000416167.2	-	3	1437	c.271G>A	c.(271-273)Gag>Aag	p.E91K	IGF2_ENST00000418738.2_Missense_Mutation_p.E91K|IGF2_ENST00000381395.1_Missense_Mutation_p.E91K|IGF2_ENST00000434045.2_Missense_Mutation_p.E147K|IGF2_ENST00000381406.4_Missense_Mutation_p.E94K|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381392.1_Missense_Mutation_p.E94K|IGF2_ENST00000300632.5_Missense_Mutation_p.E91K|IGF2_ENST00000381389.1_Missense_Mutation_p.E91K			P01344	IGF2_HUMAN	insulin-like growth factor 2	91	D.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGTCCCTCTCGGACTTGGCG	0.652																																						uc009yde.2		NA																	0				central_nervous_system(1)	1						c.(271-273)GAG>AAG		insulin-like growth factor 2 isoform 1							45.0	39.0	41.0					11																	2154782		2202	4298	6500	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154782C>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.271G>A	11.37:g.2154782C>T	ENSP00000414497:p.Glu91Lys					IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.E91K|IGF2_uc009ydf.2_Missense_Mutation_p.E147K|IGF2_uc001lvh.2_Missense_Mutation_p.E91K|INS-IGF2_uc001lvi.2_RNA	p.E91K	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	3	374	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	91			D.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.271G>A	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886991	0.91814	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	3.16	2.22	0.28083	Insulin-like growth factor II E-peptide, C-terminal (1);Insulin-like (2);	0.000000	0.85682	U	0.000000	D	0.87341	0.6153	M	0.84948	2.725	0.80722	D	1	D;D	0.69078	0.979;0.997	P;P	0.47827	0.475;0.558	D	0.87615	0.2506	10	0.66056	D	0.02	-13.8997	11.1195	0.48281	0.0:0.8104:0.1896:0.0	.	147;91	C9JAF2;P01344	.;IGF2_HUMAN	K	91;94;91;91;94;147;94;91;91;91;94	ENSP00000370802:E91K;ENSP00000370813:E94K;ENSP00000414497:E91K;ENSP00000300632:E91K;ENSP00000391826:E147K;ENSP00000370799:E94K;ENSP00000370796:E91K;ENSP00000402047:E91K;ENSP00000338297:E91K	ENSP00000300632:E91K	E	-	1	0	IGF2	2111358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.462000	0.66707	0.658000	0.30925	0.450000	0.29827	GAG		0.652	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		15	15	0	0	0	0	15	15				
OR8K3	219473	broad.mit.edu	37	11	56085986	56085986	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:56085986C>T	ENST00000312711.1	+	1	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383																																						uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(202-204)TTC>TTT		olfactory receptor, family 8, subfamily K,							160.0	162.0	162.0					11																	56085986		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085986C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.204C>T	11.37:g.56085986C>T							p.F68F	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	204	+	Esophageal squamous(21;0.00448)		68			Helical; Name=2; (Potential).		Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.204C>T	CCDS31527.1																																																																																				0.383	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		43	87	0	0	0	0	43	87				
TSGA10IP	254187	broad.mit.edu	37	11	65714808	65714808	+	RNA	SNP	C	C	T	rs533013932	byFrequency	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:65714808C>T	ENST00000532620.1	+	0	743				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AACCTGAAGGCGAGACAGCAG	0.652													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17111	0.001		0.0	False		,,,				2504	0.0					uc001ogk.1		NA																	0					0						c.(511-513)GCG>GTG		testis specific, 10 interacting protein							17.0	21.0	20.0					11																	65714808		1999	4166	6165			254187							g.chr11:65714808C>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714808C>T						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	p.A171V	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			5	544	+			171					Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.512C>T																																																																																					0.652	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		5	14	0	0	0	0	5	14				
CNTN5	53942	broad.mit.edu	37	11	100141898	100141898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:100141898C>T	ENST00000524871.1	+	18	2529	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R673*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R747*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R747*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R747*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	747	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2239-2241)CGA>TGA		contactin 5 isoform long							97.0	98.0	98.0					11																	100141898		1945	4155	6100	SO:0001587	stop_gained	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141898C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2239C>T	11.37:g.100141898C>T	ENSP00000435637:p.Arg747*					CNTN5_uc001pfz.2_Nonsense_Mutation_p.R747*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.R673*|CNTN5_uc010ruk.1_Nonsense_Mutation_p.R18*	p.R747*	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2578	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	747			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	ENST00000524871.1	37	c.2239C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950847	0.97956	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.51	1.96	0.26148	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9853	0.58588	0.4088:0.5912:0.0:0.0	.	.	.	.	X	747;747;747;673;747	.	ENSP00000279463:R747X	R	+	1	2	CNTN5	99647108	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	1.766000	0.38491	0.497000	0.27926	0.467000	0.42956	CGA		0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	30	0	0	0	0	10	30				
GRAMD1B	57476	broad.mit.edu	37	11	123471189	123471189	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:123471189C>T	ENST00000529750.1	+	7	881	c.554C>T	c.(553-555)tCg>tTg	p.S185L	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S192L|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S185L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	185						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S185L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCTTCACTTCGTTTGGGGCC	0.408																																						uc001pyx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(553-555)TCG>TTG		GRAM domain containing 1B							87.0	81.0	83.0					11																	123471189		1840	4084	5924	SO:0001583	missense	57476					integral to membrane		g.chr11:123471189C>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.554C>T	11.37:g.123471189C>T	ENSP00000436500:p.Ser185Leu					GRAMD1B_uc001pyw.2_Missense_Mutation_p.S192L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S145L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S145L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S181L	p.S185L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	7	883	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.554C>T	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001746	0.93227	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.44881	1.24;1.26;1.25;1.32;0.91	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;P;P;P	0.65443	0.935;0.903;0.588;0.716	T	0.72388	-0.4309	10	0.87932	D	0	.	19.8907	0.96929	0.0:1.0:0.0:0.0	.	145;192;185;192	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	L	192;192;185;185;145;181	ENSP00000402457:S192L;ENSP00000325628:S185L;ENSP00000436500:S185L;ENSP00000432987:S145L;ENSP00000434214:S181L	ENSP00000325628:S185L	S	+	2	0	GRAMD1B	122976399	1.000000	0.71417	0.734000	0.30879	0.915000	0.54546	7.715000	0.84713	2.696000	0.92011	0.591000	0.81541	TCG		0.408	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		12	20	0	0	0	0	12	20				
A2M	2	broad.mit.edu	37	12	9265043	9265043	+	Silent	SNP	C	C	T	rs201901298		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:9265043C>T	ENST00000318602.7	-	3	667	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	120					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTAACCATCACTGTGGTCC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(358-360)GTG>GTA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)	C		1,3877		0,1,1938	109.0	105.0	107.0		360	1.6	0.7	12		107	4,8302		0,4,4149	no	coding-synonymous	A2M	NM_000014.4		0,5,6087	TT,TC,CC		0.0482,0.0258,0.041		120/1475	9265043	5,12179	1939	4153	6092	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9265043C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.360G>A	12.37:g.9265043C>T						A2M_uc009zgk.1_Intron	p.V120V	NM_000014	NP_000005	P01023	A2MG_HUMAN			3	473	-			120					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.360G>A	CCDS44827.1																																																																																				0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		15	22	0	0	0	0	15	22				
SLC2A13	114134	broad.mit.edu	37	12	40158310	40158310	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40158310G>A	ENST00000280871.4	-	9	1722	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	558					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AGTGAAACCAGGACATTGAAA	0.328										HNSCC(50;0.14)																												uc010skm.1		NA																	0				ovary(1)	1						c.(1672-1674)CTG>TTG		solute carrier family 2 (facilitated glucose							104.0	104.0	104.0					12																	40158310		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158310G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1672C>T	12.37:g.40158310G>A		HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.L558L	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			9	1723	-		Lung NSC(34;0.105)|all_lung(34;0.123)	558			Helical; Name=11; (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.1672C>T	CCDS8736.2																																																																																				0.328	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			26	63	0	0	0	0	26	63				
LRRK2	120892	broad.mit.edu	37	12	40758787	40758787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40758787G>A	ENST00000298910.7	+	49	7383	c.7325G>A	c.(7324-7326)cGt>cAt	p.R2442H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2442					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTTCAACTCGTCGACTTATA	0.398											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(7324-7326)CGT>CAT		leucine-rich repeat kinase 2							104.0	96.0	99.0					12																	40758787		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40758787G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7325G>A	12.37:g.40758787G>A	ENSP00000298910:p.Arg2442His		OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	895	LRRK2_uc009zjw.2_Missense_Mutation_p.R1280H|LRRK2_uc001rmi.2_Missense_Mutation_p.R1275H	p.R2442H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			49	7446	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2442					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7325G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214436	0.39102	.	.	ENSG00000188906	ENST00000298910	T	0.35973	1.28	5.27	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.156413	0.64402	D	0.000016	T	0.24890	0.0604	N	0.25380	0.74	0.39105	D	0.961368	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.07731	-1.0757	10	0.15066	T	0.55	.	14.767	0.69646	0.0816:0.0:0.9184:0.0	.	2442;2442	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	2442	ENSP00000298910:R2442H	ENSP00000298910:R2442H	R	+	2	0	LRRK2	39045054	0.984000	0.35163	0.880000	0.34516	0.775000	0.43874	2.701000	0.47094	2.453000	0.82957	0.585000	0.79938	CGT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		26	42	0	0	0	0	26	42				
HOXC9	3225	broad.mit.edu	37	12	54396311	54396311	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:54396311C>T	ENST00000303450.4	+	2	706	c.636C>T	c.(634-636)ctC>ctT	p.L212L	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.L212L|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	212					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGAGTTTCTCTTCAATATGT	0.547																																						uc001sep.2		NA																	0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(634-636)CTC>CTT		homeobox C9							76.0	80.0	79.0					12																	54396311		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396311C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.636C>T	12.37:g.54396311C>T						HOXC9_uc001seq.2_Silent_p.L212L	p.L212L	NM_006897	NP_008828	P31274	HXC9_HUMAN			3	734	+			212			Homeobox.		B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.636C>T	CCDS8869.1																																																																																				0.547	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			25	56	0	0	0	0	25	56				
ERBB3	2065	broad.mit.edu	37	12	56495083	56495083	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:56495083C>T	ENST00000267101.3	+	27	3880	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	ERBB3_ENST00000450146.2_Missense_Mutation_p.S504F|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1088F|ERBB3_ENST00000553131.1_Missense_Mutation_p.S388F|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.S267F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1147					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCCACTCTCCCCACCCGGG	0.572																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(3439-3441)TCC>TTC		erbB-3 isoform 1 precursor							58.0	58.0	58.0					12																	56495083		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495083C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3440C>T	12.37:g.56495083C>T	ENSP00000267101:p.Ser1147Phe					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.S504F|ERBB3_uc010sqc.1_Missense_Mutation_p.S1088F|ERBB3_uc009zok.2_Missense_Mutation_p.S412F|ERBB3_uc001sjk.2_Missense_Mutation_p.S388F|ERBB3_uc001sjl.2_Missense_Mutation_p.S267F	p.S1147F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		27	3633	+			1147			Cytoplasmic (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3440C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569316	0.45798	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;D;T	0.82167	-1.32;-1.33;-1.31;-1.58;-1.42	6.17	5.28	0.74379	.	0.226724	0.31821	N	0.007020	T	0.72534	0.3472	N	0.24115	0.695	0.44366	D	0.997261	B;B;B	0.34103	0.343;0.437;0.036	B;B;B	0.32980	0.146;0.156;0.063	T	0.74303	-0.3709	10	0.66056	D	0.02	.	11.9912	0.53176	0.0:0.9189:0.0:0.0811	.	1088;267;1147	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	F	1147;504;1088;270;388;267	ENSP00000267101:S1147F;ENSP00000399178:S504F;ENSP00000408340:S1088F;ENSP00000449129:S388F;ENSP00000448729:S267F	ENSP00000267101:S1147F	S	+	2	0	ERBB3	54781350	0.003000	0.15002	1.000000	0.80357	0.994000	0.84299	1.181000	0.32017	2.941000	0.99782	0.655000	0.94253	TCC		0.572	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			22	35	0	0	0	0	22	35				
AVPR1A	552	broad.mit.edu	37	12	63544545	63544545	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:63544545G>A	ENST00000299178.2	-	1	177	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	24					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TGTTGCCAGCGCCGGTGGCCA	0.711																																						uc001sro.1		NA																	0					0						c.(70-72)GGC>GGT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						19.0	19.0	19.0					12																	63544545		1958	3898	5856	SO:0001819	synonymous_variant	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544545G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.72C>T	12.37:g.63544545G>A							p.G24G	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2046	-			24			Extracellular (Potential).			Silent	SNP	ENST00000299178.2	37	c.72C>T	CCDS8965.1																																																																																				0.711	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			15	28	0	0	0	0	15	28				
PPFIA2	8499	broad.mit.edu	37	12	81746976	81746976	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:81746976G>C	ENST00000549396.1	-	17	2076	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C	PPFIA2_ENST00000443686.3_Missense_Mutation_p.S540C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S486C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S565C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S639C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S621C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S206C|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S621C	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	639					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCACTTGGAGAGAGAAGATC	0.408																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1915-1917)TCT>TGT		PTPRF interacting protein alpha 2							177.0	168.0	171.0					12																	81746976		1928	4158	6086	SO:0001583	missense	8499							g.chr12:81746976G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1916C>G	12.37:g.81746976G>C	ENSP00000450337:p.Ser639Cys					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.S639C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	2077	-			565					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1916C>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697587	0.88830	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.83312	2.635	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.76908	-0.2785	10	0.87932	D	0	-11.3636	19.2605	0.93966	0.0:0.0:1.0:0.0	.	639	O75334	LIPA2_HUMAN	C	639;621;206;565;650;621;639;540;639;220	ENSP00000450337:S639C;ENSP00000450298:S621C;ENSP00000438337:S206C;ENSP00000385093:S565C;ENSP00000327416:S621C;ENSP00000449338:S639C;ENSP00000388373:S540C;ENSP00000447868:S639C;ENSP00000448941:S220C	ENSP00000327416:S621C	S	-	2	0	PPFIA2	80271107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.534000	0.85438	0.585000	0.79938	TCT		0.408	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			28	51	0	0	0	0	28	51				
WSCD2	9671	broad.mit.edu	37	12	108604016	108604016	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:108604016G>A	ENST00000332082.4	+	5	1434	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	WSCD2_ENST00000547525.1_Missense_Mutation_p.V206M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V206M|WSCD2_ENST00000549903.1_Missense_Mutation_p.V206M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	206	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGAGGCAGCGTGTGCGGCGG	0.682																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(616-618)GTG>ATG		WSC domain containing 2							17.0	23.0	21.0					12																	108604016		2200	4288	6488	SO:0001583	missense	9671					integral to membrane		g.chr12:108604016G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.616G>A	12.37:g.108604016G>A	ENSP00000331933:p.Val206Met					WSCD2_uc001tmt.2_Missense_Mutation_p.V206M	p.V206M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			4	1360	+			206			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.616G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204195	0.38905	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.12	0.543	0.17179	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.994952	0.08159	N	0.988737	T	0.30759	0.0775	N	0.21282	0.65	0.26108	N	0.980726	P	0.38167	0.621	B	0.34722	0.188	T	0.22034	-1.0228	10	0.40728	T	0.16	-15.7763	0.506	0.00587	0.3714:0.1772:0.2707:0.1806	.	206	Q2TBF2	WSCD2_HUMAN	M	206;206;53;206;206	ENSP00000448047:V206M;ENSP00000261400:V206M;ENSP00000446744:V53M;ENSP00000331933:V206M;ENSP00000447272:V206M	ENSP00000261400:V206M	V	+	1	0	WSCD2	107128146	0.863000	0.29885	0.997000	0.53966	0.986000	0.74619	0.056000	0.14256	0.181000	0.19994	-0.234000	0.12200	GTG		0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		7	10	0	0	0	0	7	10				
SLITRK5	26050	broad.mit.edu	37	13	88329719	88329719	+	Silent	SNP	G	G	A	rs368201867		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:88329719G>A	ENST00000325089.6	+	2	2295	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	SLITRK5_ENST00000400028.3_Silent_p.R451R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	692					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAAGCGCAGGAAGAAGAACC	0.607																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2074-2076)AGG>AGA		SLIT and NTRK-like family, member 5 precursor							120.0	124.0	123.0					13																	88329719		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329719G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2076G>A	13.37:g.88329719G>A						SLITRK5_uc010tic.1_Silent_p.R451R	p.R692R	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2295	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		692			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2076G>A	CCDS9465.1																																																																																				0.607	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			6	47	0	0	0	0	6	47				
MCF2L	23263	broad.mit.edu	37	13	113730378	113730378	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:113730378C>T	ENST00000375608.3	+	13	1555	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	MCF2L_ENST00000423482.2_Silent_p.I467I|MCF2L_ENST00000397030.1_Silent_p.I502I|MCF2L_ENST00000442652.2_Silent_p.I499I|MCF2L_ENST00000375604.2_Silent_p.I526I|MCF2L_ENST00000375597.4_Silent_p.I467I|MCF2L_ENST00000375601.3_Silent_p.I473I|MCF2L_ENST00000421756.1_Silent_p.I473I|MCF2L_ENST00000434480.2_Silent_p.I475I|MCF2L_ENST00000535094.2_Silent_p.I469I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	499					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGGAAATCGAGAAGTTTT	0.522																																						uc001vsu.2		NA																	0				ovary(1)|kidney(1)	2						c.(1576-1578)ATC>ATT		MCF.2 cell line derived transforming							78.0	74.0	75.0					13																	113730378		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113730378C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1497C>T	13.37:g.113730378C>T						MCF2L_uc001vsq.2_Silent_p.I526I|MCF2L_uc010tjr.1_Silent_p.I469I|MCF2L_uc001vsr.2_Silent_p.I473I|MCF2L_uc001vss.3_Silent_p.I467I|MCF2L_uc010tjs.1_Silent_p.I467I|MCF2L_uc001vst.1_Silent_p.I431I	p.I526I	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			12	1600	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	499					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1578C>T		.	.	.	.	.	.	.	.	.	.	C	0.495	-0.873622	0.02570	.	.	ENSG00000126217	ENST00000397017	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9226	0.79589	0.0:0.1803:0.0747:0.745	.	.	.	.	X	130	.	.	R	+	1	2	MCF2L	112778379	0.007000	0.16637	0.012000	0.15200	0.007000	0.05969	-1.283000	0.02796	-3.033000	0.00265	-1.223000	0.01593	CGA		0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			16	34	0	0	0	0	16	34				
DHRS2	10202	broad.mit.edu	37	14	24114424	24114424	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:24114424G>A	ENST00000250383.6	+	9	1281	c.805G>A	c.(805-807)Gag>Aag	p.E269K	DHRS2_ENST00000344777.7_Silent_p.G272G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	269					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGTCAACGGGGAGAACATTGC	0.607																																						uc001wkt.3		NA																	0		p.A272V(1)		large_intestine(1)|ovary(1)	2						c.(814-816)GGG>GGA		dehydrogenase/reductase member 2 isoform 1							127.0	106.0	113.0					14																	24114424		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24114424G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.805G>A	14.37:g.24114424G>A	ENSP00000250383:p.Glu269Lys					DHRS2_uc001wku.3_Missense_Mutation_p.E269K|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.G270E	p.G272G	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	9	1263	+			Error:Variant_position_missing_in_Q13268_after_alignment					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.816G>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.550496|3.550496	0.65311|0.65311	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000250383|ENST00000557535	D|T	0.87809|0.77229	-2.3|-1.08	4.34|4.34	3.45|3.45	0.39498|0.39498	.|.	.|0.730823	.|0.12658	.|N	.|0.449885	T|T	0.78767|0.78767	0.4335|0.4335	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73269|0.73269	-0.4036|-0.4036	8|6	0.62326|.	D|.	0.03|.	.|.	10.1231|10.1231	0.42632|0.42632	0.1006:0.0:0.8994:0.0|0.1006:0.0:0.8994:0.0	.|.	269|.	D3DS54|.	.|.	K|E	269|168	ENSP00000250383:E269K|ENSP00000451895:G168E	ENSP00000250383:E269K|.	E|G	+|+	1|2	0|0	DHRS2|DHRS2	23184264|23184264	0.999000|0.999000	0.42202|0.42202	0.012000|0.012000	0.15200|0.15200	0.512000|0.512000	0.34134|0.34134	3.008000|3.008000	0.49544|0.49544	1.171000|1.171000	0.42768|0.42768	0.557000|0.557000	0.71058|0.71058	GAG|GGA		0.607	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		46	68	0	0	0	0	46	68				
AKAP6	9472	broad.mit.edu	37	14	33291093	33291093	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:33291093G>C	ENST00000280979.4	+	13	4244	c.4074G>C	c.(4072-4074)caG>caC	p.Q1358H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1358					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGAGCCAGAATTCAGGCA	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4072-4074)CAG>CAC		A-kinase anchor protein 6							79.0	72.0	75.0					14																	33291093		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291093G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4074G>C	14.37:g.33291093G>C	ENSP00000280979:p.Gln1358His						p.Q1358H	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4244	+	Breast(36;0.0388)|Prostate(35;0.15)		1358					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4074G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203587	0.38905	.	.	ENSG00000151320	ENST00000280979	T	0.05447	3.44	5.71	-1.52	0.08637	.	0.266072	0.34700	N	0.003742	T	0.07999	0.0200	L	0.51422	1.61	0.80722	D	1	P	0.49961	0.93	P	0.44732	0.459	T	0.14035	-1.0487	10	0.87932	D	0	-10.588	12.0486	0.53493	0.4842:0.0:0.5158:0.0	.	1358	Q13023	AKAP6_HUMAN	H	1358	ENSP00000280979:Q1358H	ENSP00000280979:Q1358H	Q	+	3	2	AKAP6	32360844	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	0.888000	0.28268	-0.105000	0.12132	0.563000	0.77884	CAG		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		14	46	0	0	0	0	14	46				
MDGA2	161357	broad.mit.edu	37	14	47601019	47601019	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:47601019G>T	ENST00000399232.2	-	5	980	c.616C>A	c.(616-618)Ctt>Att	p.L206I	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.L275I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	206	Ig-like 2.				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						TGAGGTCGAAGATTCTTTAGT	0.338																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(616-618)CTT>ATT		MAM domain containing 1 isoform 1							189.0	147.0	160.0					14																	47601019		692	1589	2281	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47601019G>T	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.616C>A	14.37:g.47601019G>T	ENSP00000382178:p.Leu206Ile					MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	p.L206I	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			5	812	-			206			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.616C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.747745|4.747745	0.89663|0.89663	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000399232|ENST00000554762	T;T|.	0.03242|.	4.0;4.0|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.46758|.	U|.	0.000278|.	T|T	0.69477|0.69477	0.3115|0.3115	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.60415|.	0.874|.	T|T	0.65565|0.65565	-0.6137|-0.6137	10|5	0.51188|.	T|.	0.08|.	.|.	17.9584|17.9584	0.89076|0.89076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	206|.	Q7Z553|.	MDGA2_HUMAN|.	I|Y	206;275|8	ENSP00000400011:L206I;ENSP00000382178:L275I|.	ENSP00000382178:L275I|.	L|S	-|-	1|2	0|0	MDGA2|MDGA2	46670769|46670769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.227000|9.227000	0.95236|0.95236	2.655000|2.655000	0.90218|0.90218	0.585000|0.585000	0.79938|0.79938	CTT|TCT		0.338	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		13	19	1	0	1.62e-10	1.74e-10	13	19				
ENTPD5	957	broad.mit.edu	37	14	74440678	74440678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:74440678G>C	ENST00000334696.6	-	12	1107	c.788C>G	c.(787-789)aCt>aGt	p.T263S	ENTPD5_ENST00000557325.1_Missense_Mutation_p.T263S	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	263					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTGCCCATCAGTCCCTGAAAG	0.512																																						uc010tuo.1		NA																	0				ovary(1)	1						c.(787-789)ACT>AGT		ectonucleoside triphosphate diphosphohydrolase 5							87.0	76.0	80.0					14																	74440678		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74440678G>C	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.788C>G	14.37:g.74440678G>C	ENSP00000335246:p.Thr263Ser					ENTPD5_uc001xpi.2_Missense_Mutation_p.T263S	p.T263S	NM_001249	NP_001240	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	12	1099	-			263					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.788C>G	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	G	4.675	0.125540	0.08931	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.10005	2.92;2.92	5.41	-5.91	0.02269	.	1.513000	0.03370	N	0.198847	T	0.06554	0.0168	N	0.16708	0.43	0.09310	N	0.999997	B;B	0.18166	0.009;0.026	B;B	0.21546	0.035;0.034	T	0.42749	-0.9433	10	0.06365	T	0.9	-17.8958	12.9766	0.58540	0.2695:0.0:0.6247:0.1057	.	263;263	O75356;G3V4I0	ENTP5_HUMAN;.	S	263	ENSP00000451810:T263S;ENSP00000335246:T263S	ENSP00000335246:T263S	T	-	2	0	ENTPD5	73510431	0.000000	0.05858	0.096000	0.21009	0.967000	0.64934	-0.296000	0.08287	-1.414000	0.02025	-0.484000	0.04775	ACT		0.512	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		31	60	0	0	0	0	31	60				
RYR3	6263	broad.mit.edu	37	15	33927847	33927847	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:33927847A>G	ENST00000389232.4	+	26	3278	c.3208A>G	c.(3208-3210)Aag>Gag	p.K1070E	RYR3_ENST00000415757.3_Missense_Mutation_p.K1070E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1070	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCATAGACAAGATCCGATT	0.473																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3208-3210)AAG>GAG		ryanodine receptor 3							63.0	62.0	62.0					15																	33927847		2064	4225	6289	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927847A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3208A>G	15.37:g.33927847A>G	ENSP00000373884:p.Lys1070Glu					RYR3_uc010bar.2_Missense_Mutation_p.K1070E	p.K1070E	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3278	+		all_lung(180;7.18e-09)	1070			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3208A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066746	0.55539	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.17	5.17	0.71159	B30.2/SPRY domain (1);	0.282664	0.33110	N	0.005263	D	0.94689	0.8287	L	0.53249	1.67	0.42726	D	0.993696	P;P	0.41131	0.739;0.622	B;B	0.41510	0.359;0.197	D	0.93945	0.7227	10	0.29301	T	0.29	.	15.1912	0.73047	1.0:0.0:0.0:0.0	.	1070;1070	Q15413-2;Q15413	.;RYR3_HUMAN	E	1070	ENSP00000373884:K1070E;ENSP00000399610:K1070E	ENSP00000354735:K1070E	K	+	1	0	RYR3	31715139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.867000	0.69597	2.159000	0.67721	0.533000	0.62120	AAG		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	19	0	0	0	0	9	19				
UNC13C	440279	broad.mit.edu	37	15	54527261	54527261	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:54527261G>A	ENST00000260323.11	+	4	3105	c.3105G>A	c.(3103-3105)atG>atA	p.M1035I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1035I|UNC13C_ENST00000545554.1_Missense_Mutation_p.M1035I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1035					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGACAGCATGCCGGATCTTC	0.373																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3103-3105)ATG>ATA		unc-13 homolog C							152.0	141.0	144.0					15																	54527261		1854	4097	5951	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54527261G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3105G>A	15.37:g.54527261G>A	ENSP00000260323:p.Met1035Ile						p.M1035I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	4	3105	+			1035					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3105G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394155	0.83011	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81330	-1.45;-1.48;-1.48	5.67	5.67	0.87782	.	0.083304	0.85682	D	0.000000	D	0.89396	0.6703	M	0.79805	2.47	0.50813	D	0.999897	P	0.49447	0.924	P	0.60682	0.878	D	0.90065	0.4159	10	0.87932	D	0	.	17.606	0.88037	0.0:0.0:1.0:0.0	.	1035	Q8NB66	UN13C_HUMAN	I	1035	ENSP00000260323:M1035I;ENSP00000438156:M1035I;ENSP00000442569:M1035I	ENSP00000260323:M1035I	M	+	3	0	UNC13C	52314553	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.051000	0.89446	2.835000	0.97688	0.591000	0.81541	ATG		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		10	27	0	0	0	0	10	27				
CSPG4	1464	broad.mit.edu	37	15	75974679	75974679	+	Silent	SNP	C	C	T	rs145039359		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:75974679C>T	ENST00000308508.5	-	8	4997	c.4905G>A	c.(4903-4905)caG>caA	p.Q1635Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1635	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGTCCTGCTGGGCGTGGA	0.677																																						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4903-4905)CAG>CAA		chondroitin sulfate proteoglycan 4 precursor		C		0,4394		0,0,2197	53.0	48.0	49.0		4905	3.9	0.8	15	dbSNP_134	49	1,8575		0,1,4287	no	coding-synonymous	CSPG4	NM_001897.4		0,1,6484	TT,TC,CC		0.0117,0.0,0.0077		1635/2323	75974679	1,12969	2197	4288	6485	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974679C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4905G>A	15.37:g.75974679C>T							p.Q1635Q	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			8	4998	-			1635			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4905G>A	CCDS10284.1																																																																																				0.677	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		27	54	0	0	0	0	27	54				
KIAA0556	23247	broad.mit.edu	37	16	27761517	27761517	+	Missense_Mutation	SNP	A	A	G	rs560393620		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr16:27761517A>G	ENST00000261588.4	+	16	3255	c.3236A>G	c.(3235-3237)aAt>aGt	p.N1079S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1079						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAACTACAATAAATCTCGG	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.001					uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(3235-3237)AAT>AGT		hypothetical protein LOC23247							99.0	95.0	96.0					16																	27761517		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761517A>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3236A>G	16.37:g.27761517A>G	ENSP00000261588:p.Asn1079Ser						p.N1079S	NM_015202	NP_056017	O60303	K0556_HUMAN			16	3260	+			1079					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3236A>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504209	0.85176	.	.	ENSG00000047578	ENST00000261588	T	0.36340	1.26	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.79258	2.445	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.66814	-0.5828	10	0.72032	D	0.01	-12.7621	15.2549	0.73576	1.0:0.0:0.0:0.0	.	1079	O60303	K0556_HUMAN	S	1079	ENSP00000261588:N1079S	ENSP00000261588:N1079S	N	+	2	0	KIAA0556	27669018	1.000000	0.71417	0.976000	0.42696	0.917000	0.54804	9.131000	0.94446	2.122000	0.65172	0.533000	0.62120	AAT		0.527	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		28	48	0	0	0	0	28	48				
CNTROB	116840	broad.mit.edu	37	17	7847852	7847852	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:7847852G>A	ENST00000563694.1	+	12	2555	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000380262.3_Missense_Mutation_p.E544K|CNTROB_ENST00000565740.1_Missense_Mutation_p.E544K	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	544	Required for centrosome localization.				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)				GCAGCTGGAGGAGCAGCGGGT	0.622																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1630-1632)GAG>AAG		centrobin, centrosomal BRCA2 interacting protein							55.0	52.0	53.0					17																	7847852		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7847852G>A	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.1630G>A	17.37:g.7847852G>A	ENSP00000456335:p.Glu544Lys					CNTROB_uc002gjp.2_Missense_Mutation_p.E544K|CNTROB_uc002gjr.2_Missense_Mutation_p.E446K	p.E544K	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			13	2549	+		Prostate(122;0.173)	544			Potential.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1630G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266247	0.80358	.	.	ENSG00000170037	ENST00000380262	T	0.13196	2.61	4.56	4.56	0.56223	.	0.000000	0.53938	D	0.000052	T	0.16128	0.0388	N	0.19112	0.55	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.57911	0.766;0.717;0.829	T	0.01725	-1.1287	10	0.33940	T	0.23	-14.7181	10.255	0.43392	0.0931:0.0:0.9069:0.0	.	544;544;544	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	K	544	ENSP00000369614:E544K	ENSP00000369614:E544K	E	+	1	0	CNTROB	7788577	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.424000	0.52764	2.530000	0.85305	0.561000	0.74099	GAG		0.622	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		24	34	0	0	0	0	24	34				
ARHGEF15	22899	broad.mit.edu	37	17	8215869	8215869	+	Missense_Mutation	SNP	C	C	A	rs147736312		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8215869C>A	ENST00000361926.3	+	2	622	c.512C>A	c.(511-513)cCg>cAg	p.P171Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P171Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	171					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAGATGCCCCGGAGCCAGGT	0.642																																						uc002glc.2		NA																	0				ovary(2)|skin(1)	3						c.(511-513)CCG>CAG		Rho guanine exchange factor 15							33.0	36.0	35.0					17																	8215869		2203	4299	6502	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215869C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.512C>A	17.37:g.8215869C>A	ENSP00000355026:p.Pro171Gln					ARHGEF15_uc002glb.1_Missense_Mutation_p.P171Q|ARHGEF15_uc002gld.2_Missense_Mutation_p.P171Q|ARHGEF15_uc010vuw.1_Missense_Mutation_p.P171Q	p.P171Q	NM_173728	NP_776089	O94989	ARHGF_HUMAN			2	633	+			171					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.512C>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	1.256	-0.617161	0.03663	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.67865	-0.29;-0.29	5.51	-0.0675	0.13760	.	0.669254	0.13290	N	0.399058	T	0.42314	0.1197	N	0.14661	0.345	0.09310	N	1	P;P;B	0.42123	0.771;0.771;0.015	B;B;B	0.39805	0.31;0.31;0.022	T	0.29912	-0.9996	10	0.45353	T	0.12	-0.0566	3.195	0.06630	0.1897:0.3571:0.0:0.4532	.	171;171;72	D3DTR7;O94989;B4DTR5	.;ARHGF_HUMAN;.	Q	171;72;171	ENSP00000355026:P171Q;ENSP00000412505:P171Q	ENSP00000355026:P171Q	P	+	2	0	ARHGEF15	8156594	0.005000	0.15991	0.350000	0.25708	0.006000	0.05464	-0.131000	0.10482	0.373000	0.24621	-0.477000	0.04895	CCG		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		20	44	1	0	6.21e-17	6.74e-17	20	44				
MYH10	4628	broad.mit.edu	37	17	8411915	8411915	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8411915G>A	ENST00000269243.4	-	24	3216	c.3078C>T	c.(3076-3078)gcC>gcT	p.A1026A	MYH10_ENST00000379980.4_Silent_p.A1042A|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_Silent_p.A1057A|MYH10_ENST00000396239.1_Silent_p.A1047A	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1026					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGATTTTGGCCAAGTTTT	0.413																																						uc002gll.2		NA																	0				ovary(2)	2						c.(3076-3078)GCC>GCT		myosin, heavy polypeptide 10, non-muscle							243.0	219.0	227.0					17																	8411915		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8411915G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3078C>T	17.37:g.8411915G>A						MYH10_uc002glm.2_Silent_p.A1057A|MYH10_uc010cnx.2_Silent_p.A1035A	p.A1026A	NM_005964	NP_005955	P35580	MYH10_HUMAN			24	3174	-			1026			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.3078C>T	CCDS11144.1																																																																																				0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			69	124	0	0	0	0	69	124				
PIK3R6	146850	broad.mit.edu	37	17	8730512	8730512	+	Missense_Mutation	SNP	C	C	T	rs556552630		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8730512C>T	ENST00000311434.9	-	13	1731	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	498					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										TTGTGGATGGCGGGGCACAGC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		18003	0.001		0.0	False		,,,				2504	0.0					uc002glq.1		NA																	0					0						c.(1492-1494)GCC>ACC		phosphoinositide-3-kinase, regulatory subunit 6							31.0	36.0	34.0					17																	8730512		2089	4224	6313	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8730512C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1492G>A	17.37:g.8730512C>T	ENSP00000475670:p.Ala498Thr					PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.A498T	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			13	1732	-			498					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1492G>A																																																																																					0.662	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		6	9	0	0	0	0	6	9				
PLEKHM1	9842	broad.mit.edu	37	17	43545614	43545614	+	Silent	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:43545614T>A	ENST00000430334.3	-	5	1402	c.1269A>T	c.(1267-1269)ggA>ggT	p.G423G	PLEKHM1_ENST00000421073.2_Silent_p.G334G|RN7SL730P_ENST00000583727.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	423					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCAGACCAGCTCCGTCATGAG	0.587																																						uc002ija.2		NA																	0					0						c.(1267-1269)GGA>GGT		pleckstrin homology domain containing, family M							12.0	13.0	13.0					17																	43545614		2187	4276	6463	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545614T>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1269A>T	17.37:g.43545614T>A						PLEKHM1_uc010wjm.1_Silent_p.G395G|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Silent_p.G372G	p.G423G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			5	1439	-	Renal(3;0.0405)		423					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1269A>T	CCDS32671.1																																																																																				0.587	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	18	0	0	0	0	4	18				
OTOP2	92736	broad.mit.edu	37	17	72923778	72923778	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:72923778A>T	ENST00000580223.1	+	4	558	c.528A>T	c.(526-528)acA>acT	p.T176T	OTOP2_ENST00000331427.4_Silent_p.T176T			Q7RTS6	OTOP2_HUMAN	otopetrin 2	176						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCATGTTCACACTCACCACCA	0.582																																						uc010wrp.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(526-528)ACA>ACT		otopetrin 2							84.0	70.0	75.0					17																	72923778		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72923778A>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.528A>T	17.37:g.72923778A>T						OTOP2_uc002jmf.1_3'UTR	p.T176T	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			6	617	+	all_lung(278;0.172)|Lung NSC(278;0.207)		176						Silent	SNP	ENST00000580223.1	37	c.528A>T	CCDS11708.1																																																																																				0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		21	45	0	0	0	0	21	45				
CTAGE1	64693	broad.mit.edu	37	18	19995819	19995819	+	5'Flank	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:19995819T>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.E652E			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCTTCATTTTCAGCGGGGA	0.438																																						uc002ktv.1		NA																	0				ovary(1)	1						c.(1954-1956)GAA>GAG		cutaneous T-cell lymphoma-associated antigen 1							127.0	140.0	136.0					18																	19995819		2202	4299	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995819T>C	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995819T>C	Exception_encountered						p.E652E	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2060	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		652					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.1956A>G																																																																																					0.438	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		70	164	0	0	0	0	70	164				
MOCOS	55034	broad.mit.edu	37	18	33780032	33780032	+	Missense_Mutation	SNP	C	C	T	rs141623345		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:33780032C>T	ENST00000261326.5	+	4	707	c.686C>T	c.(685-687)aCg>aTg	p.T229M		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTGTGAGCACGCCTGGGAAG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.0					uc002kzq.3		NA																	0				skin(1)	1						c.(685-687)ACG>ATG		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	86.0		686	-6.1	0.0	18	dbSNP_134	86	0,8600		0,0,4300	no	missense	MOCOS	NM_017947.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	229/889	33780032	1,13005	2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33780032C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.686C>T	18.37:g.33780032C>T	ENSP00000261326:p.Thr229Met						p.T229M	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			4	709	+			229						Missense_Mutation	SNP	ENST00000261326.5	37	c.686C>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201229	0.22121	2.27E-4	0.0	ENSG00000075643	ENST00000261326	T	0.15718	2.4	5.65	-6.05	0.02172	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	1.660200	0.02475	N	0.087913	T	0.19406	0.0466	L	0.49126	1.545	0.09310	N	1	D	0.55605	0.972	P	0.49332	0.607	T	0.39502	-0.9611	10	0.48119	T	0.1	1.8084	4.0824	0.09932	0.0971:0.3112:0.1021:0.4895	.	229	Q96EN8	MOCOS_HUMAN	M	229	ENSP00000261326:T229M	ENSP00000261326:T229M	T	+	2	0	MOCOS	32034030	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.491000	0.06474	-1.356000	0.02183	-0.258000	0.10820	ACG		0.567	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			24	60	0	0	0	0	24	60				
IZUMO4	113177	broad.mit.edu	37	19	2097286	2097286	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:2097286T>G	ENST00000395301.3	+	2	317	c.253T>G	c.(253-255)Tac>Gac	p.Y85D	IZUMO4_ENST00000395296.1_Missense_Mutation_p.Y85D|IZUMO4_ENST00000395307.2_Missense_Mutation_p.Y85D|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	85						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GACAGCAGTGTACCAGATGAT	0.697											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002luw.1		NA																	0					0						c.(253-255)TAC>GAC		hypothetical protein LOC113177 isoform 3							41.0	48.0	46.0					19																	2097286		2203	4299	6502	SO:0001583	missense	113177					extracellular region		g.chr19:2097286T>G	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.253T>G	19.37:g.2097286T>G	ENSP00000378712:p.Tyr85Asp		OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	C19orf36_uc002lux.1_Missense_Mutation_p.Y85D|C19orf36_uc010xgw.1_Missense_Mutation_p.Y85D	p.Y85D	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	330	+		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	85					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	ENST00000395301.3	37	c.253T>G	CCDS42458.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641790	0.47153	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395296;ENST00000395301	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.95	2.92	0.33932	.	0.000000	0.31438	N	0.007649	T	0.21347	0.0514	L	0.27053	0.805	0.37216	D	0.905027	D;D	0.58620	0.983;0.983	P;P	0.50570	0.644;0.644	T	0.08932	-1.0698	10	0.87932	D	0	-27.5048	5.2472	0.15502	0.0:0.1309:0.0:0.8691	.	85;85	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	D	132;85;85;85	ENSP00000378718:Y132D;ENSP00000300960:Y85D;ENSP00000378709:Y85D;ENSP00000378712:Y85D	ENSP00000300960:Y85D	Y	+	1	0	IZUMO4	2048286	0.995000	0.38212	0.941000	0.38009	0.395000	0.30598	1.435000	0.34969	1.742000	0.51746	0.379000	0.24179	TAC		0.697	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878		24	38	0	0	0	0	24	38				
PEX11G	92960	broad.mit.edu	37	19	7543261	7543261	+	Splice_Site	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:7543261A>G	ENST00000221480.1	-	4	438	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000593942.1_Splice_Site_p.S74P	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	144					peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ATCCACAGGGACCTGCAGCAC	0.672																																						uc002mgk.1		NA																	0					0						c.(430-432)TCC>CCC		peroxisomal biogenesis factor 11 gamma							30.0	28.0	29.0					19																	7543261		2202	4299	6501	SO:0001630	splice_region_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7543261A>G	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.429-1T>C	19.37:g.7543261A>G						PEX11G_uc002mgl.1_Missense_Mutation_p.S74P	p.S144P	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN			4	439	-			144			Helical; (Potential).		Q8NDM0	Missense_Mutation	SNP	ENST00000221480.1	37	c.430T>C	CCDS12178.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694991	0.48202	.	.	ENSG00000104883	ENST00000221480	T	0.47869	0.83	4.94	2.75	0.32379	.	0.100356	0.64402	D	0.000001	T	0.62612	0.2442	M	0.83603	2.65	0.45791	D	0.998675	D	0.62365	0.991	P	0.60012	0.867	T	0.59773	-0.7391	10	0.33940	T	0.23	-17.6389	9.3428	0.38089	0.6509:0.3491:0.0:0.0	.	144	Q96HA9	PX11C_HUMAN	P	144	ENSP00000221480:S144P	ENSP00000221480:S144P	S	-	1	0	PEX11G	7449261	1.000000	0.71417	0.996000	0.52242	0.072000	0.16883	1.990000	0.40717	0.264000	0.21851	0.460000	0.39030	TCC		0.672	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662	Missense_Mutation	8	6	0	0	0	0	8	6				
NOTCH3	4854	broad.mit.edu	37	19	15302902	15302902	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:15302902C>G	ENST00000263388.2	-	4	623	c.548G>C	c.(547-549)tGc>tCc	p.C183S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	183	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> F (in CADASIL). {ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.|C -> R (in CADASIL). {ECO:0000269|PubMed:10227618, ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:15229130, ECO:0000269|PubMed:15364702}.|C -> S (in CADASIL). {ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGACACTGGCAGCGGAAGGA	0.672																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	GRCh37	CM052272	NOTCH3	M		c.(547-549)TGC>TCC		Notch homolog 3 precursor							39.0	39.0	39.0					19																	15302902		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302902C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.548G>C	19.37:g.15302902C>G	ENSP00000263388:p.Cys183Ser					NOTCH3_uc002nao.1_Missense_Mutation_p.C183S	p.C183S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		4	624	-			183		C -> R (in CADASIL).|C -> S (in CADASIL).|C -> F (in CADASIL).	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.548G>C	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199793	0.79015	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.99429	-5.89	4.87	4.87	0.63330	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99729	0.9894	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97075	0.9780	9	0.87932	D	0	.	16.8121	0.85724	0.0:1.0:0.0:0.0	.	186;183	Q59FL3;Q9UM47	.;NOTC3_HUMAN	S	183;185	ENSP00000263388:C183S	ENSP00000263388:C183S	C	-	2	0	NOTCH3	15163902	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.613000	0.82986	2.248000	0.74166	0.558000	0.71614	TGC		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	32	0	0	0	0	12	32				
TMEM59L	25789	broad.mit.edu	37	19	18731326	18731326	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:18731326C>T	ENST00000600490.1	+	9	1194	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	TMEM59L_ENST00000262817.3_Silent_p.L337L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	337						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAAGCTGAAGCTGGACCTGAC	0.657																																						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(1009-1011)CTG>TTG		brain-specific membrane-anchored protein							72.0	65.0	67.0					19																	18731326		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731326C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.1009C>T	19.37:g.18731326C>T							p.L337L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			8	1096	+			337						Silent	SNP	ENST00000600490.1	37	c.1009C>T	CCDS12383.1																																																																																				0.657	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			22	39	0	0	0	0	22	39				
ZNF302	55900	broad.mit.edu	37	19	35175210	35175210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:35175210G>A	ENST00000446502.2	+	6	608	c.400G>A	c.(400-402)Gat>Aat	p.D134N	ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.D90N|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.D90N|ZNF302_ENST00000509528.1_Missense_Mutation_p.M21I|ZNF302_ENST00000423823.2_Missense_Mutation_p.D90N			Q9NR11	ZN302_HUMAN	zinc finger protein 302	73					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATATTTATGATGAAGATTC	0.294																																						uc002nvr.1		NA																	0					0						c.(400-402)GAT>AAT		zinc finger protein 302							47.0	51.0	50.0					19																	35175210		2100	4233	6333	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175210G>A	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.400G>A	19.37:g.35175210G>A	ENSP00000396379:p.Asp134Asn					ZNF302_uc002nvp.1_Missense_Mutation_p.D90N|ZNF302_uc002nvq.1_Missense_Mutation_p.D90N|ZNF302_uc002nvs.1_Missense_Mutation_p.D90N	p.D134N	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	663	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q9NR11_after_alignment					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.400G>A		.	.	.	.	.	.	.	.	.	.	G	9.755	1.168403	0.21621	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.04603	3.6;3.6;6.07;3.6;3.59	0.967	0.967	0.19674	.	.	.	.	.	T	0.03783	0.0107	L	0.31664	0.95	0.20196	N	0.999927	B;B	0.14438	0.006;0.01	B;B	0.13407	0.003;0.009	T	0.40701	-0.9549	9	0.38643	T	0.18	.	5.2771	0.15655	0.0:0.0:1.0:0.0	.	134;90	E7EVR1;Q9NR11-2	.;.	N	90;90;90;90;134	ENSP00000391067:D90N;ENSP00000421028:D90N;ENSP00000421696:D90N;ENSP00000405219:D90N;ENSP00000396379:D134N	ENSP00000405219:D90N	D	+	1	0	ZNF302	39867050	0.985000	0.35326	0.609000	0.28983	0.035000	0.12851	0.454000	0.21827	0.822000	0.34565	0.467000	0.42956	GAT		0.294	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			20	32	0	0	0	0	20	32				
CAPNS1	826	broad.mit.edu	37	19	36633613	36633613	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:36633613C>A	ENST00000246533.3	+	4	901	c.303C>A	c.(301-303)ttC>ttA	p.F101L	CAPNS1_ENST00000590874.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Missense_Mutation_p.F101L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	101	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGGCAGTTCCGGAGACTCT	0.612																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odj.2		NA																	0					0						c.(301-303)TTC>TTA		calpain, small subunit 1							123.0	129.0	127.0					19																	36633613		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633613C>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.303C>A	19.37:g.36633613C>A	ENSP00000246533:p.Phe101Leu					CAPNS1_uc002odi.1_Missense_Mutation_p.F101L|CAPNS1_uc002odk.2_Missense_Mutation_p.F101L|CAPNS1_uc002odl.2_Missense_Mutation_p.F101L	p.F101L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	460	+	Esophageal squamous(110;0.162)		101			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.303C>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.320189	0.81469	.	.	ENSG00000126247	ENST00000246533	T	0.37584	1.19	4.73	2.6	0.31112	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.72624	2.21	0.80722	D	1	D	0.71674	0.998	P	0.55749	0.783	T	0.38045	-0.9679	10	0.49607	T	0.09	.	6.6517	0.22965	0.0:0.7122:0.0:0.2878	.	101	P04632	CPNS1_HUMAN	L	101	ENSP00000246533:F101L	ENSP00000246533:F101L	F	+	3	2	CAPNS1	41325453	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.226000	0.17776	0.704000	0.31869	0.655000	0.94253	TTC		0.612	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			45	94	1	0	2.78e-22	3.05e-22	45	94				
RAB4B	53916	broad.mit.edu	37	19	41289968	41289968	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:41289968G>T	ENST00000594800.1	+	5	578	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.A140S|RAB4B_ENST00000357052.2_Missense_Mutation_p.A140S			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	140					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCCGCTTTGCCCAGGAGAA	0.627																																						uc002opd.1		NA																	0				skin(1)	1						c.(418-420)GCC>TCC		ras-related GTP-binding protein 4b							38.0	34.0	35.0					19																	41289968		2203	4300	6503	SO:0001583	missense	53916				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:41289968G>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.418G>T	19.37:g.41289968G>T	ENSP00000470246:p.Ala140Ser					RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.A166S	p.A140S	NM_016154	NP_057238	P61018	RAB4B_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	528	+			140					P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.418G>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638541	0.67130	.	.	ENSG00000167578	ENST00000357052	D	0.81908	-1.55	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.92303	0.7558	M	0.90198	3.095	0.80722	D	1	D;D	0.58268	0.978;0.982	D;D	0.67382	0.95;0.951	D	0.93907	0.7193	10	0.72032	D	0.01	.	16.8338	0.85951	0.0:0.0:1.0:0.0	.	175;140	P61018-2;P61018	.;RAB4B_HUMAN	S	140	ENSP00000349560:A140S	ENSP00000349560:A140S	A	+	1	0	RAB4B	45981808	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	9.723000	0.98772	2.259000	0.74868	0.393000	0.25936	GCC		0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		18	29	1	0	8.34e-07	8.87e-07	18	29				
FBXO46	23403	broad.mit.edu	37	19	46215924	46215924	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:46215924C>T	ENST00000317683.3	-	2	963	c.830G>A	c.(829-831)gGc>gAc	p.G277D		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	277										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ACTGGGCAGGCCGCTGTCTGG	0.697																																						uc002pcy.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(829-831)GGC>GAC		F-box protein 46							19.0	23.0	22.0					19																	46215924		1933	4110	6043	SO:0001583	missense	23403						protein binding	g.chr19:46215924C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.830G>A	19.37:g.46215924C>T	ENSP00000410007:p.Gly277Asp					FBXO46_uc002pcz.2_Missense_Mutation_p.G277D	p.G277D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	955	-		Ovarian(192;0.179)|all_neural(266;0.224)	277						Missense_Mutation	SNP	ENST00000317683.3	37	c.830G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	0.610	-0.825563	0.02734	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.25	3.18	0.36537	.	.	.	.	.	T	0.20618	0.0496	N	0.08118	0	0.29203	N	0.875109	B	0.14012	0.009	B	0.18871	0.023	T	0.23655	-1.0182	8	0.13470	T	0.59	-0.1314	8.283	0.31910	0.0:0.8887:0.0:0.1113	.	277	Q6PJ61	FBX46_HUMAN	D	277	.	ENSP00000410007:G277D	G	-	2	0	FBXO46	50907764	1.000000	0.71417	0.030000	0.17652	0.196000	0.23810	1.897000	0.39799	0.982000	0.38575	0.563000	0.77884	GGC		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		13	14	0	0	0	0	13	14				
C5AR2	27202	broad.mit.edu	37	19	47844487	47844487	+	Missense_Mutation	SNP	C	C	T	rs375770018		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:47844487C>T	ENST00000595464.1	+	2	649	c.431C>T	c.(430-432)aCg>aTg	p.T144M	C5AR2_ENST00000257267.2_Missense_Mutation_p.T144M|C5AR2_ENST00000600626.1_Missense_Mutation_p.T144M	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	144					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TGGTGGTCTACGGTTCAGCGG	0.677																																						uc010ela.1		NA																	0				ovary(1)	1						c.(430-432)ACG>ATG		G protein-coupled receptor 77		C	MET/THR	0,4406		0,0,2203	61.0	61.0	61.0		431	-6.4	0.0	19		61	2,8598	2.2+/-6.3	0,2,4298	no	missense	GPR77	NM_018485.1	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	144/338	47844487	2,13004	2203	4300	6503	SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844487C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.431C>T	19.37:g.47844487C>T	ENSP00000472620:p.Thr144Met					GPR77_uc002pgk.1_Missense_Mutation_p.T144M	p.T144M	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	649	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	144			Cytoplasmic (Potential).		B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.431C>T	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094081	0.20471	0.0	2.33E-4	ENSG00000134830	ENST00000257267	T	0.39229	1.09	4.34	-6.41	0.01938	GPCR, rhodopsin-like superfamily (1);	0.309754	0.29362	U	0.012379	T	0.23014	0.0556	L	0.39245	1.2	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.06661	-1.0814	10	0.62326	D	0.03	.	3.0482	0.06160	0.4863:0.2681:0.0932:0.1524	.	144	Q9P296	C5ARL_HUMAN	M	144	ENSP00000257267:T144M	ENSP00000257267:T144M	T	+	2	0	GPR77	52536327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.598000	0.05706	-1.209000	0.02631	-2.925000	0.00089	ACG		0.677	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		34	71	0	0	0	0	34	71				
ZNF665	79788	broad.mit.edu	37	19	53668506	53668506	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53668506G>C	ENST00000600412.1	-	2	1157	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q413E|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	348					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)	p.Q413*(1)|p.Q348*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTGAATACTGAGTGAAAACC	0.408																																						uc010eqm.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1237-1239)CAG>GAG		zinc finger protein 665							94.0	100.0	98.0					19																	53668506		2201	4298	6499	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668506G>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1042C>G	19.37:g.53668506G>C	ENSP00000469154:p.Gln348Glu						p.Q413E	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1337	-			348			C2H2-type 9.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1237C>G		.	.	.	.	.	.	.	.	.	.	G	5.835	0.338217	0.11069	.	.	ENSG00000197497	ENST00000396424	T	0.07327	3.2	2.41	-4.83	0.03161	.	.	.	.	.	T	0.06005	0.0156	L	0.27975	0.815	0.09310	N	1	P	0.52577	0.954	P	0.48952	0.596	T	0.04495	-1.0947	9	0.34782	T	0.22	.	0.6122	0.00763	0.2892:0.1109:0.2577:0.3422	.	413	Q9H7R5-2	.	E	413	ENSP00000379702:Q413E	ENSP00000379702:Q413E	Q	-	1	0	ZNF665	58360318	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.846000	0.00352	-1.655000	0.01497	-0.436000	0.05848	CAG		0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		17	30	0	0	0	0	17	30				
ZNF761	388561	broad.mit.edu	37	19	53959873	53959873	+	RNA	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53959873C>T	ENST00000454407.1	+	0	2565							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)		AGAAGTCATCCCTTATATGCC	0.388																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(2110-2112)TCC>TCT		zinc finger protein 761							108.0	109.0	109.0					19																	53959873		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959873C>T	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.53959873C>T						ZNF761_uc010ydy.1_Silent_p.S650S|ZNF761_uc002qbt.1_Silent_p.S650S	p.S704S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2570	+			704			C2H2-type 18.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.2112C>T																																																																																					0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		27	65	0	0	0	0	27	65				
SOX11	6664	broad.mit.edu	37	2	5833021	5833021	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:5833021C>T	ENST00000322002.3	+	1	223	c.168C>T	c.(166-168)ttC>ttT	p.F56F	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	56					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGAACGCGTTCATGGTATGGT	0.602																																						uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(166-168)TTC>TTT		SRY-box 11							70.0	60.0	64.0					2																	5833021		2203	4300	6503	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833021C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.168C>T	2.37:g.5833021C>T							p.F56F	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	223	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		56			HMG box.		Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.168C>T	CCDS1654.1																																																																																				0.602	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		6	11	0	0	0	0	6	11				
TGOLN2	10618	broad.mit.edu	37	2	85554437	85554437	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:85554437A>G	ENST00000409232.3	-	2	479	c.418T>C	c.(418-420)Tcg>Ccg	p.S140P	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.S140P|TGOLN2_ENST00000377386.3_Missense_Mutation_p.S140P|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S140P|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S140P			O43493	TGON2_HUMAN	trans-golgi network protein 2	140	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TCCGCACCCGATTTGCCAGTG	0.592																																						uc010fgd.1		NA																	0					0						c.(418-420)TCG>CCG		trans-golgi network protein 2							300.0	301.0	300.0					2																	85554437		1952	4150	6102	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554437A>G	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.418T>C	2.37:g.85554437A>G	ENSP00000386443:p.Ser140Pro					TGOLN2_uc002soz.2_Missense_Mutation_p.S140P|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.S140P|TGOLN2_uc002spc.1_Missense_Mutation_p.S140P	p.S140P	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	707	-			140			Extracellular (Potential).|7.|14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.418T>C	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420187	0.42918	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.15017	2.66;2.46;2.69;2.67;2.63	1.34	-2.69	0.06022	.	.	.	.	.	T	0.24392	0.0591	L	0.52573	1.65	0.09310	N	0.999999	B;B;D;B	0.69078	0.037;0.037;0.997;0.037	B;B;D;B	0.75484	0.016;0.016;0.986;0.016	T	0.16808	-1.0390	9	0.22109	T	0.4	-1.1758	2.8743	0.05626	0.3817:0.4148:0.2036:0.0	.	140;140;140;140	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	P	140	ENSP00000366603:S140P;ENSP00000381312:S140P;ENSP00000386443:S140P;ENSP00000387035:S140P;ENSP00000391190:S140P	ENSP00000366603:S140P	S	-	1	0	TGOLN2	85407948	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.681000	0.00837	-0.722000	0.04922	0.145000	0.16022	TCG		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		201	358	0	0	0	0	201	358				
IL1R1	3554	broad.mit.edu	37	2	102782600	102782600	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:102782600A>G	ENST00000410023.1	+	6	832	c.514A>G	c.(514-516)Ata>Gta	p.I172V	IL1R1_ENST00000424272.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409288.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409929.1_Missense_Mutation_p.I172V|IL1R1_ENST00000233946.3_Missense_Mutation_p.I172V|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.I172V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	172	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCTTGACAATATACACTTTAG	0.413																																						uc002tbq.2		NA																	0				skin(1)	1						c.(514-516)ATA>GTA		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						113.0	108.0	110.0					2																	102782600		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102782600A>G	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.514A>G	2.37:g.102782600A>G	ENSP00000386380:p.Ile172Val					IL1R1_uc010fix.2_Missense_Mutation_p.I172V|IL1R1_uc002tbp.2_Missense_Mutation_p.I172V|IL1R1_uc002tbr.2_Missense_Mutation_p.I172V	p.I172V	NM_000877	NP_000868	P14778	IL1R1_HUMAN			6	832	+			172			Extracellular (Potential).|Ig-like C2-type 2.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.514A>G	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	A	9.957	1.221634	0.22457	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.48	-8.8	0.00817	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.107130	0.01639	N	0.023946	T	0.64238	0.2580	N	0.16790	0.44	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.52019	-0.8631	10	0.27785	T	0.31	.	18.0997	0.89501	0.2471:0.0:0.7529:0.0	.	172;172;172	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	V	172;172;172;28;172;172;172;172	ENSP00000386776:I172V;ENSP00000415366:I172V;ENSP00000387131:I172V;ENSP00000410461:I28V;ENSP00000386478:I172V;ENSP00000386380:I172V;ENSP00000233946:I172V;ENSP00000408101:I172V	ENSP00000233946:I172V	I	+	1	0	IL1R1	102149032	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-0.231000	0.09069	-1.998000	0.00968	-0.361000	0.07541	ATA		0.413	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			24	40	0	0	0	0	24	40				
WDR33	55339	broad.mit.edu	37	2	128480839	128480839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:128480839C>T	ENST00000322313.4	-	12	1437	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	427					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TATTCTACTCCATCTTCAGAC	0.348																																						uc002tpg.1		NA																	0					0						c.(1279-1281)GGA>AGA		WD repeat domain 33 isoform 1							150.0	162.0	158.0					2																	128480839		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128480839C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1279G>A	2.37:g.128480839C>T	ENSP00000325377:p.Gly427Arg						p.G427R	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	12	1462	-	Colorectal(110;0.1)		427					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1279G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005681	0.74932	.	.	ENSG00000136709	ENST00000322313	D	0.89415	-2.51	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93189	0.6581	10	0.54805	T	0.06	-10.5813	19.1908	0.93666	0.0:1.0:0.0:0.0	.	427	Q9C0J8	WDR33_HUMAN	R	427	ENSP00000325377:G427R	ENSP00000325377:G427R	G	-	1	0	WDR33	128197309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.061000	0.76699	2.586000	0.87340	0.655000	0.94253	GGA		0.348	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		40	99	0	0	0	0	40	99				
TTN	7273	broad.mit.edu	37	2	179588170	179588170	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179588170A>T	ENST00000591111.1	-	72	20930	c.20706T>A	c.(20704-20706)tcT>tcA	p.S6902S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S5975S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.S7219S|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12492	Ig-like 50.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTAGTGCAAGATGCTTGGC	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17923-17925)TCT>TCA		titin isoform N2-A							79.0	79.0	79.0					2																	179588170		1937	4148	6085	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588170A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20706T>A	2.37:g.179588170A>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2636S	p.S5975S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	18149	-			6902					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.17925T>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	17	0	0	0	0	9	17				
TTN	7273	broad.mit.edu	37	2	179654095	179654095	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179654095G>C	ENST00000591111.1	-	13	2292	c.2068C>G	c.(2068-2070)Cat>Gat	p.H690D	TTN_ENST00000360870.5_Missense_Mutation_p.H690D|TTN_ENST00000342992.6_Missense_Mutation_p.H690D|TTN_ENST00000359218.5_Missense_Mutation_p.H644D|TTN_ENST00000342175.6_Missense_Mutation_p.H644D|TTN_ENST00000460472.2_Missense_Mutation_p.H644D|TTN_ENST00000589042.1_Missense_Mutation_p.H690D			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCCATGGGTAACTTGG	0.338																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2068-2070)CAT>GAT		titin isoform N2-A							208.0	201.0	203.0					2																	179654095		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654095G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2068C>G	2.37:g.179654095G>C	ENSP00000465570:p.His690Asp					TTN_uc010zfh.1_Missense_Mutation_p.H644D|TTN_uc010zfi.1_Missense_Mutation_p.H644D|TTN_uc010zfj.1_Missense_Mutation_p.H644D|TTN_uc002unb.2_Missense_Mutation_p.H690D|TTN_uc010frg.1_Missense_Mutation_p.H272D	p.H690D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2292	-			690					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2068C>G		.	.	.	.	.	.	.	.	.	.	G	11.26	1.587329	0.28268	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.63096	-0.02;0.22;0.21;0.2;0.33;0.73	5.9	5.9	0.94986	Ribonuclease H-like (1);	.	.	.	.	T	0.48352	0.1495	N	0.24115	0.695	0.23468	N	0.997618	B;B;B;B;B	0.30361	0.037;0.037;0.037;0.037;0.277	B;B;B;B;B	0.29785	0.011;0.011;0.011;0.011;0.107	T	0.46317	-0.9200	9	0.87932	D	0	.	9.1737	0.37098	0.1208:0.0:0.8792:0.0	.	644;644;644;690;690	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	690;644;644;644;644;690;194	ENSP00000343764:H690D;ENSP00000434586:H644D;ENSP00000340554:H644D;ENSP00000352154:H644D;ENSP00000354117:H690D;ENSP00000405517:H194D	ENSP00000340554:H644D	H	-	1	0	TTN	179362340	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	1.410000	0.34691	2.808000	0.96608	0.650000	0.86243	CAT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	77	0	0	0	0	37	77				
DNAH7	56171	broad.mit.edu	37	2	196726633	196726633	+	Missense_Mutation	SNP	C	C	T	rs546179605		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:196726633C>T	ENST00000312428.6	-	42	7644	c.7544G>A	c.(7543-7545)cGa>cAa	p.R2515Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAAGAATCGTGAGGCAAC	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.001					uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(7543-7545)CGA>CAA		dynein, axonemal, heavy chain 7							106.0	99.0	101.0					2																	196726633		1878	4107	5985	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196726633C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7544G>A	2.37:g.196726633C>T	ENSP00000311273:p.Arg2515Gln						p.R2515Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			42	7645	-			2515			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7544G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858721	0.17178	.	.	ENSG00000118997	ENST00000312428	T	0.56611	0.45	5.87	3.13	0.36017	Dynein heavy chain, P-loop containing D4 domain (1);	0.132504	0.51477	D	0.000086	T	0.50735	0.1633	L	0.45698	1.435	0.09310	N	0.999998	D	0.53619	0.961	P	0.50970	0.655	T	0.39663	-0.9603	10	0.44086	T	0.13	.	7.482	0.27411	0.0:0.6745:0.1208:0.2047	.	2515	Q8WXX0	DYH7_HUMAN	Q	2515	ENSP00000311273:R2515Q	ENSP00000311273:R2515Q	R	-	2	0	DNAH7	196434878	1.000000	0.71417	0.032000	0.17829	0.004000	0.04260	3.116000	0.50399	0.398000	0.25338	-0.145000	0.13849	CGA		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	33	0	0	0	0	18	33				
ATG16L1	55054	broad.mit.edu	37	2	234198586	234198586	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:234198586G>A	ENST00000392017.4	+	13	1547	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	ATG16L1_ENST00000392020.4_Silent_p.R411R|ATG16L1_ENST00000373525.5_Silent_p.R251R|SCARNA6_ENST00000515982.1_RNA|ATG16L1_ENST00000347464.5_Silent_p.R267R|ATG16L1_ENST00000392018.1_Silent_p.R447R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	430					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTCACGACCGGACTCTCAAAC	0.502																																						uc002vty.2		NA																	0					0						c.(1288-1290)CGG>CGA		APG16 autophagy 16-like isoform 1							110.0	97.0	101.0					2																	234198586		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234198586G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1290G>A	2.37:g.234198586G>A						ATG16L1_uc002vtx.1_Silent_p.R267R|ATG16L1_uc002vua.2_Silent_p.R411R|ATG16L1_uc002vub.2_Silent_p.R288R|ATG16L1_uc002vtz.2_Silent_p.R251R|ATG16L1_uc002vud.3_Silent_p.R346R	p.R430R	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	13	1547	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	430			WD 3.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.1290G>A	CCDS2503.2																																																																																				0.502	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		18	41	0	0	0	0	18	41				
ASB1	51665	broad.mit.edu	37	2	239342262	239342262	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:239342262G>A	ENST00000264607.4	+	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Silent_p.T39T	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	39					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGAGGACACGAGGCTCCATG	0.587																																						uc002vyg.2		NA																	0					0						c.(115-117)ACG>ACA		ankyrin repeat and SOCS box-containing protein							70.0	64.0	66.0					2																	239342262		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342262G>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.117G>A	2.37:g.239342262G>A							p.T39T	NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	203	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	39			ANK 1.		A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.117G>A	CCDS33416.1																																																																																				0.587	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		10	22	0	0	0	0	10	22				
ATRN	8455	broad.mit.edu	37	20	3565467	3565467	+	Missense_Mutation	SNP	C	C	T	rs201051647		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:3565467C>T	ENST00000262919.5	+	18	3192	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ATRN_ENST00000446916.2_Missense_Mutation_p.L1042F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1042	PSI 4.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGCCCCTGCTCAATTCCAG	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19178	0.0		0.0	False		,,,				2504	0.0					uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(3124-3126)CTC>TTC		attractin isoform 1							130.0	130.0	130.0					20																	3565467		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3565467C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3124C>T	20.37:g.3565467C>T	ENSP00000262919:p.Leu1042Phe					ATRN_uc002wil.2_Missense_Mutation_p.L1042F	p.L1042F	NM_139321	NP_647537	O75882	ATRN_HUMAN			18	3214	+			1042			Extracellular (Potential).|PSI 4.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3124C>T	CCDS13053.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	22.1	4.246819	0.80024	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06528	3.29;3.36	5.49	4.52	0.55395	.	0.365698	0.28499	N	0.015136	T	0.27489	0.0675	M	0.83852	2.665	0.80722	D	1	D;D	0.76494	0.999;0.977	D;P	0.79108	0.992;0.847	T	0.04537	-1.0944	10	0.42905	T	0.14	-4.5825	15.7961	0.78412	0.0:0.8633:0.1367:0.0	.	1042;1042	O75882;O75882-2	ATRN_HUMAN;.	F	1042;1042;968	ENSP00000262919:L1042F;ENSP00000416587:L1042F	ENSP00000262919:L1042F	L	+	1	0	ATRN	3513467	1.000000	0.71417	0.971000	0.41717	0.950000	0.60333	5.729000	0.68538	1.257000	0.44085	0.650000	0.86243	CTC		0.458	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		59	101	0	0	0	0	59	101				
SEL1L2	80343	broad.mit.edu	37	20	13830958	13830958	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13830958T>G	ENST00000284951.5	-	19	1900	c.1826A>C	c.(1825-1827)cAc>cCc	p.H609P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.H496P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	609						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTGGCCAAGTGAATGTCCTA	0.438																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1825-1827)CAC>CCC		sel-1 suppressor of lin-12-like 2 precursor							95.0	93.0	94.0					20																	13830958		1957	4163	6120	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830958T>G	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1826A>C	20.37:g.13830958T>G	ENSP00000284951:p.His609Pro					SEL1L2_uc002woq.3_Missense_Mutation_p.H470P|SEL1L2_uc010zrl.1_Missense_Mutation_p.H496P|SEL1L2_uc002wor.2_RNA	p.H609P	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			19	1908	-			609			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1826A>C		.	.	.	.	.	.	.	.	.	.	T	20.6	4.017953	0.75275	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.53857	0.71;0.6	5.97	4.86	0.63082	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	T	0.59649	0.2209	L	0.39397	1.21	0.49483	D	0.99979	D;D	0.71674	0.998;0.983	D;P	0.64237	0.923;0.857	T	0.59710	-0.7403	10	0.52906	T	0.07	-7.3538	10.5533	0.45101	0.0:0.0766:0.0:0.9234	.	496;609	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	P	496;609	ENSP00000367312:H496P;ENSP00000284951:H609P	ENSP00000284951:H609P	H	-	2	0	SEL1L2	13778958	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.551000	0.67274	1.056000	0.40484	0.533000	0.62120	CAC		0.438	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		17	49	0	0	0	0	17	49				
SSTR4	6754	broad.mit.edu	37	20	23017025	23017025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:23017025C>T	ENST00000255008.3	+	1	969	c.905C>T	c.(904-906)gCc>gTc	p.A302V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	302					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTAGCTATGCCAACAGCTGC	0.577																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(904-906)GCC>GTC		somatostatin receptor 4							190.0	187.0	188.0					20																	23017025		2202	4300	6502	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017025C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.905C>T	20.37:g.23017025C>T	ENSP00000255008:p.Ala302Val						p.A302V	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	969	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		302			Helical; Name=7; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.905C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963283	0.74016	.	.	ENSG00000132671	ENST00000255008	T	0.35605	1.3	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.092082	0.42172	U	0.000750	T	0.35128	0.0921	N	0.26130	0.795	0.49483	D	0.999794	P	0.36577	0.558	P	0.46275	0.51	T	0.32481	-0.9905	10	0.52906	T	0.07	.	13.4152	0.60963	0.0:1.0:0.0:0.0	.	302	P31391	SSR4_HUMAN	V	302	ENSP00000255008:A302V	ENSP00000255008:A302V	A	+	2	0	SSTR4	22965025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.285000	0.65633	1.694000	0.51137	0.655000	0.94253	GCC		0.577	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			33	111	0	0	0	0	33	111				
ASXL1	171023	broad.mit.edu	37	20	31021439	31021439	+	Missense_Mutation	SNP	G	G	A	rs545224250	byFrequency	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:31021439G>A	ENST00000375687.4	+	12	1862	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E475K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	480	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGGGTCCCGAATTCCCAGT	0.597			"""F, N, Mis"""		"""MDS, CMML"""								G|||	2	0.000399361	0.0008	0.0	5008	,	,		17816	0.0		0.0	False		,,,				2504	0.001					uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1438-1440)GAA>AAA		additional sex combs like 1 isoform 1							106.0	109.0	108.0					20																	31021439		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021439G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1438G>A	20.37:g.31021439G>A	ENSP00000364839:p.Glu480Lys					ASXL1_uc010geb.2_Missense_Mutation_p.E371K	p.E480K	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	1864	+			480					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1438G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	2.302	-0.359871	0.05138	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14893	2.47;2.47	4.38	-2.81	0.05805	.	1.046160	0.07385	N	0.888173	T	0.08758	0.0217	N	0.21583	0.68	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.41787	-0.9489	10	0.11794	T	0.64	5.2703	5.3608	0.16087	0.3171:0.2465:0.4364:0.0	.	475;480	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	480;480;480;419;475	ENSP00000364839:E480K;ENSP00000305119:E475K	ENSP00000305119:E475K	E	+	1	0	ASXL1	30485100	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.063000	0.14410	-0.468000	0.06922	-0.345000	0.07892	GAA		0.597	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		15	161	0	0	0	0	15	161				
SYCP2	10388	broad.mit.edu	37	20	58443591	58443591	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:58443591A>T	ENST00000357552.3	-	38	4090	c.3865T>A	c.(3865-3867)Tat>Aat	p.Y1289N	SYCP2_ENST00000371001.2_Missense_Mutation_p.Y1289N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1289					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTCTATATATATTCTTTTG	0.333																																						uc002yaz.2		NA																	0				ovary(3)|lung(2)	5						c.(3865-3867)TAT>AAT		synaptonemal complex protein 2							91.0	90.0	90.0					20																	58443591		2202	4299	6501	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58443591A>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3865T>A	20.37:g.58443591A>T	ENSP00000350162:p.Tyr1289Asn						p.Y1289N	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		37	4004	-	all_lung(29;0.00344)		1289					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3865T>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193723	0.38707	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.26373	1.74;1.74	5.77	4.65	0.58169	.	0.100365	0.44483	D	0.000455	T	0.39410	0.1077	M	0.62723	1.935	0.09310	N	0.999998	D	0.54964	0.969	P	0.56960	0.81	T	0.20874	-1.0262	10	0.45353	T	0.12	-1.9788	9.8465	0.41030	0.8472:0.0:0.0:0.1528	.	1289	Q9BX26	SYCP2_HUMAN	N	1289	ENSP00000360040:Y1289N;ENSP00000350162:Y1289N	ENSP00000350162:Y1289N	Y	-	1	0	SYCP2	57876986	0.978000	0.34361	0.915000	0.36163	0.162000	0.22319	1.628000	0.37060	0.974000	0.38366	0.482000	0.46254	TAT		0.333	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		26	33	0	0	0	0	26	33				
TCEA2	6919	broad.mit.edu	37	20	62701952	62701952	+	Nonsense_Mutation	SNP	C	C	A	rs141114667		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:62701952C>A	ENST00000343484.5	+	8	952	c.783C>A	c.(781-783)tgC>tgA	p.C261*	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Nonsense_Mutation_p.C234*|TCEA2_ENST00000395053.3_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	261					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCACCTGCGGCAAGTGCA	0.632																																						uc011abs.1		NA																	0					0						c.(781-783)TGC>TGA		transcription elongation factor A protein 2							41.0	42.0	42.0					20																	62701952		2199	4298	6497	SO:0001587	stop_gained	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701952C>A	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.783C>A	20.37:g.62701952C>A	ENSP00000343515:p.Cys261*					TCEA2_uc011abr.1_Nonsense_Mutation_p.C234*|TCEA2_uc010gks.2_Nonsense_Mutation_p.C262*	p.C261*	NM_003195	NP_003186	Q15560	TCEA2_HUMAN			8	1439	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		261			TFIIS-type.		B3KNM1|Q8TD37|Q8TD38	Nonsense_Mutation	SNP	ENST00000343484.5	37	c.783C>A	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652478	0.29336	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.44	-8.88	0.00789	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5907	12.1064	0.53816	0.0832:0.2688:0.0:0.648	.	.	.	.	X	234;261;234;234;234	.	ENSP00000339432:C234X	C	+	3	2	TCEA2	62172396	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-1.302000	0.02746	-2.362000	0.00609	-1.569000	0.00873	TGC		0.632	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		10	11	1	0	0.000442599	0.000460054	10	11				
ZNF70	7621	broad.mit.edu	37	22	24086332	24086332	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:24086332G>A	ENST00000341976.3	-	2	1456	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGGCTTCTCGCCAGTGTGGG	0.567																																						uc002zxs.2		NA																	0				ovary(2)	2						c.(994-996)GGC>GGT		zinc finger protein 70							106.0	95.0	99.0					22																	24086332		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086332G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.996C>T	22.37:g.24086332G>A						ZNF70_uc002zxr.1_5'Flank	p.G332G	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	1457	-			332						Silent	SNP	ENST00000341976.3	37	c.996C>T	CCDS13812.1																																																																																				0.567	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		19	41	0	0	0	0	19	41				
LARGE	9215	broad.mit.edu	37	22	33670599	33670599	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:33670599G>A	ENST00000354992.2	-	16	2656	c.2085C>T	c.(2083-2085)ttC>ttT	p.F695F	LARGE_ENST00000397394.2_Silent_p.F695F|LARGE_ENST00000402320.1_Silent_p.F643F|LARGE_ENST00000437602.2_Silent_p.F646F|LARGE_ENST00000337431.2_Silent_p.F643F|LARGE_ENST00000452586.2_Silent_p.F494F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	695					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCAGCACAATGAACTCATACT	0.507											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2083-2085)TTC>TTT		like-glycosyltransferase							104.0	87.0	93.0					22																	33670599		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33670599G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2085C>T	22.37:g.33670599G>A			OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	LARGE_uc011amd.1_Silent_p.F494F|LARGE_uc003ane.3_Silent_p.F695F|LARGE_uc010gwp.2_Silent_p.F643F|LARGE_uc011ame.1_Silent_p.F627F|LARGE_uc011amf.1_Silent_p.F646F	p.F695F	NM_004737	NP_004728	O95461	LARGE_HUMAN			16	2664	-		Lung NSC(1;0.219)	695			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.2085C>T	CCDS13912.1																																																																																				0.507	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		29	26	0	0	0	0	29	26				
CBX6	23466	broad.mit.edu	37	22	39262468	39262468	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:39262468G>T	ENST00000407418.3	-	5	1108	c.985C>A	c.(985-987)Ccg>Acg	p.P329T	CBX6_ENST00000216083.6_Missense_Mutation_p.P311T			O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ACCTCAGGCGGTGCCCGCTTG	0.756																																						uc003awl.2		NA																	0					0						c.(985-987)CCG>ACG		chromobox homolog 6							8.0	10.0	9.0					22																	39262468		2145	4138	6283	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262468G>T		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.985C>A	22.37:g.39262468G>T	ENSP00000384490:p.Pro329Thr						p.P329T	NM_014292	NP_055107	O95503	CBX6_HUMAN			5	1048	-	Melanoma(58;0.04)		329					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.985C>A	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261427	0.10239	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.76	2.65	0.31530	.	0.764065	0.12149	N	0.495057	T	0.26268	0.0641	N	0.24115	0.695	0.09310	N	1	B	0.20052	0.041	B	0.21917	0.037	T	0.27872	-1.0061	9	0.10636	T	0.68	.	9.1828	0.37152	0.2394:0.0:0.7606:0.0	.	329	O95503	CBX6_HUMAN	T	329;311	.	ENSP00000216083:P311T	P	-	1	0	CBX6	37592414	0.988000	0.35896	0.014000	0.15608	0.077000	0.17291	2.432000	0.44784	0.425000	0.26087	0.407000	0.27541	CCG		0.756	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		7	9	1	0	2.77e-08	2.95e-08	7	9				
CACNA1I	8911	broad.mit.edu	37	22	40061518	40061518	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:40061518G>A	ENST00000402142.3	+	22	3867	c.3867G>A	c.(3865-3867)gcG>gcA	p.A1289A	CACNA1I_ENST00000404898.1_Silent_p.A1254A|CACNA1I_ENST00000336649.4_Silent_p.A1295A|CACNA1I_ENST00000400164.3_Silent_p.A1254A|CACNA1I_ENST00000407673.1_Silent_p.A1254A|CACNA1I_ENST00000401624.1_Silent_p.A1289A	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1289					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCCGGGCGCCGGGCCTGA	0.617																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3865-3867)GCG>GCA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						76.0	78.0	77.0					22																	40061518		2154	4241	6395	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40061518G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3867G>A	22.37:g.40061518G>A						CACNA1I_uc003ayd.2_Silent_p.A1254A|CACNA1I_uc003aye.2_Silent_p.A1204A|CACNA1I_uc003ayf.2_Silent_p.A1169A	p.A1289A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			22	3867	+	Melanoma(58;0.0749)		1289			III.|Helical; Name=S4 of repeat III; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3867G>A	CCDS46710.1																																																																																				0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		22	32	0	0	0	0	22	32				
FBLN1	2192	broad.mit.edu	37	22	45937151	45937151	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:45937151G>A	ENST00000327858.6	+	9	1060	c.965G>A	c.(964-966)gGg>gAg	p.G322E	FBLN1_ENST00000442170.2_Missense_Mutation_p.G322E|FBLN1_ENST00000348697.2_Missense_Mutation_p.G322E|FBLN1_ENST00000402984.3_Missense_Mutation_p.G360E|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.G322E|FBLN1_ENST00000340923.5_Missense_Mutation_p.G322E	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	322	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCTATCGGGCATACATGC	0.542																																						uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(964-966)GGG>GAG		fibulin 1 isoform D							144.0	119.0	127.0					22																	45937151		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45937151G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.965G>A	22.37:g.45937151G>A	ENSP00000331544:p.Gly322Glu					FBLN1_uc003bgg.1_Missense_Mutation_p.G322E|FBLN1_uc003bgh.2_Missense_Mutation_p.G322E|FBLN1_uc010gzz.2_Missense_Mutation_p.G360E|FBLN1_uc003bgi.1_Missense_Mutation_p.G322E	p.G322E	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1112	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	322			EGF-like 4; calcium-binding (Potential).		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.965G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053185	0.75960	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.31	5.31	0.75309	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.099783	0.64402	D	0.000001	D	0.95645	0.8584	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.995	D	0.95903	0.8917	10	0.72032	D	0.01	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	360;322;322;322	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	E	322;360;322;322;322;322	ENSP00000262723:G322E;ENSP00000385521:G360E;ENSP00000262722:G322E;ENSP00000331544:G322E;ENSP00000393812:G322E;ENSP00000342212:G322E	ENSP00000262722:G322E	G	+	2	0	FBLN1	44315815	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	7.608000	0.82898	2.484000	0.83849	0.655000	0.94253	GGG		0.542	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		22	50	0	0	0	0	22	50				
PLA1A	51365	broad.mit.edu	37	3	119327618	119327618	+	Splice_Site	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:119327618G>T	ENST00000273371.4	+	3	349	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	PLA1A_ENST00000494440.1_Splice_Site_p.V77F|PLA1A_ENST00000495992.1_Splice_Site_p.V93F|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	93					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTCTAGGGTTTTAGGAAC	0.408																																						uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(277-279)GTT>TTT		phospholipase A1 member A precursor							132.0	136.0	134.0					3																	119327618		2203	4300	6503	SO:0001630	splice_region_variant	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327618G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.276-1G>T	3.37:g.119327618G>T						PLA1A_uc003ecv.2_Missense_Mutation_p.V93F|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	p.V93F	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			3	316	+			93					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.277G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377154	0.61735	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90732	-2.72;-2.72;-2.72	5.17	5.17	0.71159	Lipase, N-terminal (1);	0.154343	0.64402	D	0.000020	D	0.92061	0.7484	L	0.52011	1.625	0.38419	D	0.946137	P;P	0.48911	0.898;0.917	P;P	0.54759	0.646;0.76	D	0.92687	0.6163	10	0.45353	T	0.12	-6.4196	16.4679	0.84090	0.0:0.0:1.0:0.0	.	93;93	Q53H76-3;Q53H76	.;PLA1A_HUMAN	F	93;93;77	ENSP00000273371:V93F;ENSP00000417326:V93F;ENSP00000418793:V77F	ENSP00000273371:V93F	V	+	1	0	PLA1A	120810308	1.000000	0.71417	0.995000	0.50966	0.215000	0.24574	7.956000	0.87863	2.399000	0.81585	0.462000	0.41574	GTT		0.408	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		Missense_Mutation	44	137	1	0	3.86e-30	4.25e-30	44	137				
SEMA5B	54437	broad.mit.edu	37	3	122634428	122634428	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:122634428G>A	ENST00000357599.3	-	14	2233	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	SEMA5B_ENST00000195173.4_Missense_Mutation_p.S616L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S670L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	616					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGCCATGGTGACCATGGGCC	0.587																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1846-1848)TCA>TTA		semaphorin 5B isoform 1							63.0	61.0	61.0					3																	122634428		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634428G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1847C>T	3.37:g.122634428G>A	ENSP00000350215:p.Ser616Leu					SEMA5B_uc011bju.1_Missense_Mutation_p.S558L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S616L|SEMA5B_uc010hro.1_Missense_Mutation_p.S558L	p.S616L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2151	-			616			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1847C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516158	0.85495	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.88	4.88	0.63580	.	0.127759	0.53938	D	0.000053	T	0.42291	0.1196	M	0.89658	3.05	0.58432	D	0.999999	P;P;P	0.44429	0.835;0.621;0.745	B;B;B	0.41510	0.359;0.132;0.299	T	0.58451	-0.7634	10	0.66056	D	0.02	.	17.2003	0.86904	0.0:0.0:1.0:0.0	.	558;616;616	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	L	616;616;558;670;616	ENSP00000350215:S616L;ENSP00000195173:S616L;ENSP00000389588:S670L;ENSP00000377208:S616L	ENSP00000195173:S616L	S	-	2	0	SEMA5B	124117118	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.750000	0.85110	2.520000	0.84964	0.561000	0.74099	TCA		0.587	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		13	52	0	0	0	0	13	52				
GMPS	8833	broad.mit.edu	37	3	155652794	155652794	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:155652794G>T	ENST00000496455.2	+	14	2101	c.1766G>T	c.(1765-1767)cGc>cTc	p.R589L	GMPS_ENST00000295920.7_Missense_Mutation_p.R490L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	589					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AGTACTTTACGCCAAGCTGAT	0.408			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				ovary(2)|lung(1)	3						c.(1765-1767)CGC>CTC		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						192.0	174.0	180.0					3																	155652794		1841	4082	5923	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155652794G>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1766G>T	3.37:g.155652794G>T	ENSP00000419851:p.Arg589Leu					GMPS_uc011bom.1_Missense_Mutation_p.R490L	p.R589L	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2101	+			589					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.1766G>T	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515484	0.96402	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.68	5.68	0.88126	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	D	0.88773	0.3265	9	0.87932	D	0	-9.8352	19.7926	0.96466	0.0:0.0:1.0:0.0	.	490;589	F8W720;P49915	.;GUAA_HUMAN	L	589;490;538;589	.	ENSP00000295920:R490L	R	+	2	0	GMPS	157135488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.697000	0.98697	2.670000	0.90874	0.655000	0.94253	CGC		0.408	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			58	162	1	0	3.77e-22	4.12e-22	58	162				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(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.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>A		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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			12	46	0	0	0	0	12	46				
MUC7	4589	broad.mit.edu	37	4	71346725	71346725	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:71346725C>T	ENST00000304887.5	+	3	454	c.264C>T	c.(262-264)caC>caT	p.H88H	MUC7_ENST00000456088.1_Silent_p.H88H|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Silent_p.H88H	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	88					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAAATCCTCACCAGCCACCTA	0.458																																						uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(262-264)CAC>CAT		mucin 7, secreted precursor							107.0	105.0	106.0					4																	71346725		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346725C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.264C>T	4.37:g.71346725C>T						MUC7_uc011cau.1_Silent_p.H88H|MUC7_uc003hfj.2_Silent_p.H88H|uc011cav.1_RNA	p.H88H	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	552	+			88					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.264C>T	CCDS3541.1																																																																																				0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		29	65	0	0	0	0	29	65				
INTU	27152	broad.mit.edu	37	4	128564981	128564981	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:128564981G>A	ENST00000335251.6	+	2	555	c.452G>A	c.(451-453)gGa>gAa	p.G151E	INTU_ENST00000296461.5_Missense_Mutation_p.G151E	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	151					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGAAGACAGGAGTCATTGTC	0.388																																						uc003ifk.1		NA																	0				ovary(1)	1						c.(451-453)GGA>GAA		PDZ domain containing 6							90.0	89.0	90.0					4																	128564981		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128564981G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.452G>A	4.37:g.128564981G>A	ENSP00000334003:p.Gly151Glu					INTU_uc011cgq.1_RNA	p.G151E	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			2	522	+			151					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.452G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040799	0.55003	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.54479	0.57	5.1	5.1	0.69264	.	0.058424	0.64402	D	0.000002	T	0.46288	0.1385	L	0.52364	1.645	0.80722	D	1	P	0.37061	0.58	B	0.35607	0.206	T	0.42085	-0.9472	10	0.34782	T	0.22	-22.1049	13.0628	0.59015	0.0761:0.0:0.9239:0.0	.	151	Q9ULD6	PDZD6_HUMAN	E	132;151;151	ENSP00000296461:G151E	ENSP00000296461:G151E	G	+	2	0	INTU	128784431	1.000000	0.71417	0.969000	0.41365	0.581000	0.36288	5.697000	0.68295	2.652000	0.90054	0.655000	0.94253	GGA		0.388	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		36	63	0	0	0	0	36	63				
TBC1D9	23158	broad.mit.edu	37	4	141543481	141543481	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:141543481C>T	ENST00000442267.2	-	21	3743	c.3669G>A	c.(3667-3669)gaG>gaA	p.E1223E		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1223							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCAGGGCAGGCTCAGTTAAGA	0.627																																						uc010ioj.2		NA																	0				ovary(1)	1						c.(3667-3669)GAG>GAA		TBC1 domain family, member 9 (with GRAM domain)							54.0	57.0	56.0					4																	141543481		2069	4199	6268	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543481C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3669G>A	4.37:g.141543481C>T							p.E1223E	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3941	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1223					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3669G>A	CCDS47136.1																																																																																				0.627	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		9	14	0	0	0	0	9	14				
CD180	4064	broad.mit.edu	37	5	66479050	66479050	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:66479050T>C	ENST00000256447.4	-	3	1778	c.1621A>G	c.(1621-1623)Agc>Ggc	p.S541G	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	541					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTAAGATGGCTAAGAGAATCA	0.468																																						uc003juy.2		NA																	0				ovary(1)	1						c.(1621-1623)AGC>GGC		CD180 molecule precursor							86.0	59.0	68.0					5																	66479050		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479050T>C	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1621A>G	5.37:g.66479050T>C	ENSP00000256447:p.Ser541Gly						p.S541G	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1769	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	541			LRR 18.|Extracellular (Potential).		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1621A>G	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.280549	0.00254	.	.	ENSG00000134061	ENST00000256447	T	0.09163	3.01	4.95	-0.264	0.12950	.	0.660669	0.14624	N	0.308242	T	0.07638	0.0192	L	0.49699	1.58	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37267	-0.9713	10	0.25106	T	0.35	.	1.233	0.01947	0.1623:0.2527:0.1157:0.4693	.	541	Q99467	CD180_HUMAN	G	541	ENSP00000256447:S541G	ENSP00000256447:S541G	S	-	1	0	CD180	66514806	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.461000	0.21940	-0.183000	0.10585	-1.525000	0.00928	AGC		0.468	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		9	53	0	0	0	0	9	53				
FBN2	2201	broad.mit.edu	37	5	127595365	127595365	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:127595365C>T	ENST00000508053.1	-	71	9495	c.8521G>A	c.(8521-8523)Gat>Aat	p.D2841N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2841N			P35556	FBN2_HUMAN	fibrillin 2	2841					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGCTGTCATCGTTCCCTTGA	0.547																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8521-8523)GAT>AAT		fibrillin 2 precursor							201.0	175.0	184.0					5																	127595365		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127595365C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8521G>A	5.37:g.127595365C>T	ENSP00000424571:p.Asp2841Asn						p.D2841N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	65	8960	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2841					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8521G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	1.085	-0.665746	0.03428	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	T;T	0.61392	0.11;0.11	5.57	1.8	0.24995	.	0.490865	0.20416	N	0.092764	T	0.41511	0.1162	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23048	-1.0199	10	0.33940	T	0.23	.	7.9192	0.29835	0.0:0.38:0.4226:0.1973	.	2841	P35556	FBN2_HUMAN	N	2841	ENSP00000262464:D2841N;ENSP00000424571:D2841N	ENSP00000262464:D2841N	D	-	1	0	FBN2	127623264	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	1.008000	0.29872	0.149000	0.19098	-0.834000	0.03071	GAT		0.547	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		34	105	0	0	0	0	34	105				
ADAMTS19	171019	broad.mit.edu	37	5	128977612	128977612	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:128977612C>T	ENST00000274487.4	+	11	1958	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	605	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAACCAAGCTAGACCCACC	0.398																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1813-1815)CTA>TTA		ADAM metallopeptidase with thrombospondin type 1							236.0	192.0	207.0					5																	128977612		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128977612C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1813C>T	5.37:g.128977612C>T						ADAMTS19_uc010jdh.1_RNA	p.L605L	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	11	1813	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	605			Disintegrin.			Silent	SNP	ENST00000274487.4	37	c.1813C>T	CCDS4146.1																																																																																				0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		19	75	0	0	0	0	19	75				
PCDHGC3	5098	broad.mit.edu	37	5	140857271	140857271	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:140857271C>T	ENST00000308177.3	+	1	1692	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R530R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493																																						uc003lkv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1588-1590)CGG>TGG		protocadherin gamma subfamily C, 3 isoform 1							45.0	48.0	47.0					5																	140857271		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857271C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1588C>T	5.37:g.140857271C>T	ENSP00000312070:p.Arg530Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R530W|PCDHGC3_uc003lkw.1_Intron	p.R530W	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1703	+			530			Cadherin 5.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1588C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902353	0.33628	.	.	ENSG00000240184	ENST00000308177	T	0.54675	0.56	5.13	2.3	0.28687	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.55178	0.1904	L	0.54965	1.715	0.09310	N	1	D;D	0.63880	0.993;0.987	P;B	0.47376	0.545;0.292	T	0.52366	-0.8585	9	0.72032	D	0.01	.	14.9242	0.70862	0.6143:0.3857:0.0:0.0	.	530;530	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	W	530	ENSP00000312070:R530W	ENSP00000312070:R530W	R	+	1	2	PCDHGC3	140837455	0.000000	0.05858	0.810000	0.32431	0.988000	0.76386	-0.180000	0.09754	0.384000	0.24942	0.655000	0.94253	CGG		0.493	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		17	51	0	0	0	0	17	51				
PPARGC1B	133522	broad.mit.edu	37	5	149216430	149216430	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:149216430C>T	ENST00000309241.5	+	8	2444	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	PPARGC1B_ENST00000360453.4_Silent_p.F765F|PPARGC1B_ENST00000403750.1_Silent_p.F740F|PPARGC1B_ENST00000394320.3_Silent_p.F804F	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	804	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAGCAGCTTCCTCCCAgagg	0.607																																						uc003lrc.2		NA																	0					0						c.(2410-2412)TTC>TTT		peroxisome proliferator-activated receptor							54.0	59.0	57.0					5																	149216430		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216430C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2412C>T	5.37:g.149216430C>T						PPARGC1B_uc003lrb.1_Silent_p.F804F|PPARGC1B_uc003lrd.2_Silent_p.F765F|PPARGC1B_uc003lrf.2_Silent_p.F783F|PPARGC1B_uc003lre.1_Silent_p.F783F	p.F804F	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2454	+			804			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2412C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	2.346	-0.350027	0.05173	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.24	2.41	0.29592	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28235	-1.0050	4	.	.	.	-12.5802	2.6122	0.04894	0.1529:0.5377:0.1482:0.1612	.	.	.	.	S	491	.	.	P	+	1	0	PPARGC1B	149196623	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	2.509000	0.45459	0.567000	0.29293	0.462000	0.41574	CCT		0.607	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		122	24	0	0	0	0	122	24				
SNX14	57231	broad.mit.edu	37	6	86259572	86259572	+	Silent	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:86259572T>C	ENST00000314673.3	-	8	836	c.660A>G	c.(658-660)caA>caG	p.Q220Q	SNX14_ENST00000346348.3_Silent_p.Q176Q|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Silent_p.Q168Q|SNX14_ENST00000369627.2_Silent_p.Q220Q|SNX14_ENST00000513865.1_Silent_p.Q220Q	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	220	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTAAAGCAGCTTGCTGTAAAA	0.308																																						uc003pkr.2		NA																	0					0						c.(658-660)CAA>CAG		sorting nexin 14 isoform a							67.0	74.0	72.0					6																	86259572		2202	4300	6502	SO:0001819	synonymous_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86259572T>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.660A>G	6.37:g.86259572T>C						SNX14_uc003pkp.2_Silent_p.Q83Q|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.Q168Q|SNX14_uc003pks.2_Silent_p.Q176Q|SNX14_uc003pkt.2_Silent_p.Q220Q	p.Q220Q	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	8	853	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	220			PXA.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	c.660A>G	CCDS5004.1																																																																																				0.308	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		23	42	0	0	0	0	23	42				
WDR27	253769	broad.mit.edu	37	6	170052099	170052099	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:170052099G>A	ENST00000448612.1	-	14	1517	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	WDR27_ENST00000333572.6_Missense_Mutation_p.R470W|WDR27_ENST00000423258.1_Missense_Mutation_p.R343W|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	440			P -> L (in dbSNP:rs34313252).			nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATGACGTTCCGTGCAGCTGTG	0.413																																						uc003qwx.2		NA																	0				pancreas(1)	1						c.(1408-1410)CGG>TGG		RecName: Full=WD repeat-containing protein 27;							95.0	90.0	92.0					6																	170052099		1960	4152	6112	SO:0001583	missense	253769							g.chr6:170052099G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1408C>T	6.37:g.170052099G>A	ENSP00000416289:p.Arg470Trp					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.R470W|WDR27_uc003qwy.2_Missense_Mutation_p.R343W	p.R470W			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	14	1928	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	440					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1408C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816736	0.32145	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.26067	1.83;2.08;1.76	4.59	-2.57	0.06248	.	0.376093	0.18130	N	0.150772	T	0.15739	0.0379	L	0.39898	1.24	0.09310	N	1	D;D;D	0.76494	0.995;0.999;0.998	P;P;P	0.56916	0.482;0.809;0.782	T	0.16276	-1.0408	10	0.72032	D	0.01	-10.2769	9.3191	0.37952	0.0:0.1159:0.2045:0.6796	.	470;343;470	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	W	470;470;343	ENSP00000416289:R470W;ENSP00000330265:R470W;ENSP00000397869:R343W	ENSP00000330265:R470W	R	-	1	2	WDR27	169794024	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.052000	0.14163	-0.192000	0.10432	-0.309000	0.09137	CGG		0.413	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		9	19	0	0	0	0	9	19				
SDK1	221935	broad.mit.edu	37	7	4198148	4198148	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:4198148G>A	ENST00000404826.2	+	31	4833	c.4694G>A	c.(4693-4695)aGt>aAt	p.S1565N	SDK1_ENST00000389531.3_Missense_Mutation_p.S1565N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1565	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGACTTCAGTTCAGAGACA	0.627																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4693-4695)AGT>AAT		sidekick 1 precursor							99.0	87.0	91.0					7																	4198148		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4198148G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4694G>A	7.37:g.4198148G>A	ENSP00000385899:p.Ser1565Asn					SDK1_uc010kso.2_Missense_Mutation_p.S841N|SDK1_uc003smy.2_Missense_Mutation_p.S52N	p.S1565N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	31	4833	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1565			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4694G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011950	0.93346	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.71103	-0.54;-0.54	4.81	4.81	0.61882	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	H	0.97103	3.94	0.53688	D	0.999976	D;D;D	0.89917	0.999;0.992;1.0	D;D;D	0.77004	0.979;0.912;0.989	D	0.93488	0.6833	10	0.87932	D	0	.	17.8759	0.88825	0.0:0.0:1.0:0.0	.	1565;52;1565	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	N	1565	ENSP00000385899:S1565N;ENSP00000374182:S1565N	ENSP00000374182:S1565N	S	+	2	0	SDK1	4164674	1.000000	0.71417	0.955000	0.39395	0.944000	0.59088	9.738000	0.98835	2.210000	0.71456	0.563000	0.77884	AGT		0.627	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		15	51	0	0	0	0	15	51				
ANLN	54443	broad.mit.edu	37	7	36456706	36456706	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:36456706A>C	ENST00000265748.2	+	9	1761	c.1540A>C	c.(1540-1542)Atg>Ctg	p.M514L	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	514	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATGCGAAATGACGAAATC	0.294																																						uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.(1540-1542)ATG>CTG		anillin, actin binding protein							57.0	60.0	59.0					7																	36456706		2203	4295	6498	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36456706A>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1540A>C	7.37:g.36456706A>C	ENSP00000265748:p.Met514Leu					ANLN_uc011kaz.1_Missense_Mutation_p.M426L|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	p.M514L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			9	1744	+			514			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1540A>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	8.166	0.790656	0.16258	.	.	ENSG00000011426	ENST00000265748	T	0.11604	2.76	4.78	4.78	0.61160	.	0.289221	0.40302	N	0.001139	T	0.11367	0.0277	M	0.67953	2.075	0.80722	D	1	B;B	0.33379	0.242;0.41	B;B	0.24155	0.049;0.051	T	0.06481	-1.0824	10	0.28530	T	0.3	-19.0127	10.6222	0.45487	1.0:0.0:0.0:0.0	.	391;514	B4DSL6;Q9NQW6	.;ANLN_HUMAN	L	514	ENSP00000265748:M514L	ENSP00000265748:M514L	M	+	1	0	ANLN	36423231	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	3.944000	0.56629	2.017000	0.59298	0.383000	0.25322	ATG		0.294	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		20	23	0	0	0	0	20	23				
SFRP4	6424	broad.mit.edu	37	7	37951727	37951727	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:37951727C>T	ENST00000436072.2	-	4	1162	c.785G>A	c.(784-786)cGc>cAc	p.R262H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTACCTTGAGCGCCACTCGTA	0.443																																						uc003tfo.3		NA																	0				lung(1)	1						c.(784-786)CGC>CAC		secreted frizzled-related  protein 4 precursor							156.0	147.0	150.0					7																	37951727		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951727C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.785G>A	7.37:g.37951727C>T	ENSP00000410715:p.Arg262His						p.R262H	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			4	1171	-			262			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.785G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470262	0.63625	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.29917	1.55;1.55	5.72	4.84	0.62591	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.158648	0.53938	D	0.000054	T	0.32971	0.0847	L	0.35341	1.055	0.46701	D	0.999166	P	0.46987	0.888	P	0.49597	0.616	T	0.03619	-1.1019	10	0.59425	D	0.04	.	13.0791	0.59102	0.0:0.9217:0.0:0.0783	.	262	Q6FHJ7	SFRP4_HUMAN	H	262;259;128	ENSP00000410715:R262H;ENSP00000402262:R128H	ENSP00000410715:R262H	R	-	2	0	SFRP4	37918252	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.384000	0.34396	2.684000	0.91462	0.650000	0.86243	CGC		0.443	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		18	51	0	0	0	0	18	51				
CDK13	8621	broad.mit.edu	37	7	40134010	40134010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:40134010C>T	ENST00000181839.4	+	14	4575	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1264*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1324					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GATTGATTATCAAGCAGGAGA	0.483																																						uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(3970-3972)CAA>TAA		cell division cycle 2-like 5 isoform 1							147.0	143.0	144.0					7																	40134010		2203	4300	6503	SO:0001587	stop_gained	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134010C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3970C>T	7.37:g.40134010C>T	ENSP00000181839:p.Gln1324*					CDK13_uc003thi.3_Nonsense_Mutation_p.Q1264*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q375*|CDK13_uc003thk.2_Nonsense_Mutation_p.Q257*	p.Q1324*	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4252	+			1324					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	SNP	ENST00000181839.4	37	c.3970C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	41	8.939129	0.99010	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.3	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0989	14.3041	0.66373	0.0:0.9273:0.0:0.0727	.	.	.	.	X	1324;1264	.	.	Q	+	1	0	CDK13	40100535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.714000	0.54889	1.208000	0.43306	0.655000	0.94253	CAA		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		29	52	0	0	0	0	29	52				
EGFR	1956	broad.mit.edu	37	7	55268060	55268060	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:55268060A>C	ENST00000275493.2	+	24	3077	c.2900A>C	c.(2899-2901)gAa>gCa	p.E967A	EGFR_ENST00000455089.1_Missense_Mutation_p.E922A|EGFR_ENST00000454757.2_Missense_Mutation_p.E914A|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	967	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTGATCATCGAATTCTCCAAA	0.473		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2899-2901)GAA>GCA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	152.0	161.0					7																	55268060		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268060A>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2900A>C	7.37:g.55268060A>C	ENSP00000275493:p.Glu967Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.E922A|EGFR_uc011kco.1_Missense_Mutation_p.E914A	p.E967A	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		24	3146	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		967			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2900A>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	33	5.282116	0.95489	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61627	0.09;0.09;0.09	5.61	5.61	0.85477	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	L	0.52126	1.63	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.80764	0.759;0.994	T	0.73630	-0.3922	10	0.87932	D	0	.	14.9256	0.70875	1.0:0.0:0.0:0.0	.	922;967	Q504U8;P00533	.;EGFR_HUMAN	A	922;837;967;914	ENSP00000415559:E922A;ENSP00000275493:E967A;ENSP00000395243:E914A	ENSP00000275493:E967A	E	+	2	0	EGFR	55235554	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.192000	0.94947	2.259000	0.74868	0.528000	0.53228	GAA		0.473	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		41	70	0	0	0	0	41	70				
KMT2E	55904	broad.mit.edu	37	7	104753061	104753061	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:104753061C>G	ENST00000311117.3	+	27	5403	c.4858C>G	c.(4858-4860)Caa>Gaa	p.Q1620E	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1578E|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1620E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1620	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CATTCACCATCAAACTGCTGC	0.552																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4858-4860)CAA>GAA		myeloid/lymphoid or mixed-lineage leukemia 5							156.0	131.0	139.0					7																	104753061		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104753061C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4858C>G	7.37:g.104753061C>G	ENSP00000312379:p.Gln1620Glu					MLL5_uc010ljc.2_Missense_Mutation_p.Q1620E|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.Q354E	p.Q1620E	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5392	+			1620			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4858C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	3.015	-0.203147	0.06180	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93247	-3.19;-3.19;-3.19	3.39	2.48	0.30137	.	0.000000	0.34435	N	0.003967	D	0.84781	0.5548	N	0.24115	0.695	0.80722	D	1	B;B	0.19200	0.003;0.034	B;B	0.15870	0.003;0.014	T	0.74816	-0.3536	10	0.02654	T	1	.	12.571	0.56337	0.0:0.831:0.169:0.0	.	1540;1620	F8W6H1;Q8IZD2	.;MLL5_HUMAN	E	1620;1578;1540;1620	ENSP00000312379:Q1620E;ENSP00000335599:Q1578E;ENSP00000257745:Q1620E	ENSP00000257745:Q1620E	Q	+	1	0	MLL5	104540297	0.998000	0.40836	0.903000	0.35520	0.742000	0.42306	4.305000	0.59110	0.521000	0.28445	0.305000	0.20034	CAA		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			38	82	0	0	0	0	38	82				
TRPV5	56302	broad.mit.edu	37	7	142605866	142605866	+	Silent	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:142605866G>T	ENST00000265310.1	-	15	2352	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	668					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCCCCAGAGGGCTGTTTCT	0.567																																						uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2002-2004)CCC>CCA		transient receptor potential cation channel,							64.0	62.0	62.0					7																	142605866		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605866G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2004C>A	7.37:g.142605866G>T							p.P668P	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2268	-	Melanoma(164;0.059)		668			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.2004C>A	CCDS5875.1																																																																																				0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		18	30	1	0	2.35e-11	2.55e-11	18	30				
FAM150A	389658	broad.mit.edu	37	8	53452400	53452400	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:53452400T>C	ENST00000358543.4	-	3	566	c.316A>G	c.(316-318)Acg>Gcg	p.T106A	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106A	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CAAGCTGGCGTTGAGCACTCC	0.388																																						uc003xrd.2		NA																	0					0						c.(316-318)ACG>GCG		hypothetical protein LOC389658 precursor							95.0	96.0	96.0					8																	53452400		2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452400T>C		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.316A>G	8.37:g.53452400T>C	ENSP00000351345:p.Thr106Ala					FAM150A_uc011ldt.1_Missense_Mutation_p.T106A	p.T106A	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN			3	521	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	106					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.316A>G	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	T	9.623	1.134248	0.21123	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.45	3.06	0.35304	.	0.921035	0.09098	N	0.848915	T	0.34803	0.0910	L	0.40543	1.245	0.09310	N	1	B;B	0.33171	0.4;0.122	B;B	0.33960	0.173;0.088	T	0.21075	-1.0256	9	0.33940	T	0.23	.	9.2614	0.37614	0.0:0.1533:0.0:0.8467	.	106;106	B7ZMG9;Q6UXT8	.;F150A_HUMAN	A	106	.	ENSP00000351345:T106A	T	-	1	0	FAM150A	53614953	0.047000	0.20315	0.019000	0.16419	0.667000	0.39255	2.541000	0.45735	0.916000	0.36871	0.455000	0.32223	ACG		0.388	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		39	30	0	0	0	0	39	30				
CHD7	55636	broad.mit.edu	37	8	61765709	61765709	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:61765709C>T	ENST00000423902.2	+	31	6904	c.6425C>T	c.(6424-6426)tCc>tTc	p.S2142F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2142					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6424-6426)TCC>TTC		chromodomain helicase DNA binding protein 7							56.0	58.0	57.0					8																	61765709		1909	4128	6037	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765709C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6425C>T	8.37:g.61765709C>T	ENSP00000392028:p.Ser2142Phe						p.S2142F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6902	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2142					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6425C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	8.919	0.960717	0.18583	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.72282	-0.64	5.23	5.23	0.72850	.	0.772349	0.12439	N	0.468897	T	0.59810	0.2221	L	0.29908	0.895	0.09310	N	1	B	0.20671	0.047	B	0.22880	0.042	T	0.53005	-0.8499	10	0.62326	D	0.03	-1.7556	9.5193	0.39124	0.0:0.8442:0.0:0.1558	.	2142	Q9P2D1	CHD7_HUMAN	F	2142	ENSP00000392028:S2142F	ENSP00000307304:S2142F	S	+	2	0	CHD7	61928263	0.089000	0.21612	0.025000	0.17156	0.542000	0.35054	2.367000	0.44213	2.437000	0.82529	0.655000	0.94253	TCC		0.463	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		29	19	0	0	0	0	29	19				
FABP9	646480	broad.mit.edu	37	8	82373746	82373746	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:82373746A>G	ENST00000379071.2	-	1	68	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	5					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTTCCCAAGAAGGGCTCAACC	0.403																																						uc011lfo.1		NA																	0					0						c.(13-15)TTC>CTC		fatty acid binding protein 9, testis							122.0	126.0	125.0					8																	82373746		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82373746A>G			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.13T>C	8.37:g.82373746A>G	ENSP00000368362:p.Phe5Leu						p.F5L	NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		1	13	-			5						Missense_Mutation	SNP	ENST00000379071.2	37	c.13T>C		.	.	.	.	.	.	.	.	.	.	A	15.23	2.770534	0.49680	.	.	ENSG00000205186	ENST00000379071	T	0.15139	2.45	5.31	5.31	0.75309	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.42245	1.32	0.58432	D	0.999999	P	0.38078	0.617	B	0.34991	0.193	T	0.04307	-1.0961	10	0.31617	T	0.26	.	12.8731	0.57977	1.0:0.0:0.0:0.0	.	5	Q0Z7S8	FABP9_HUMAN	L	5	ENSP00000368362:F5L	ENSP00000368362:F5L	F	-	1	0	FABP9	82536301	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.013000	0.88655	2.216000	0.71823	0.460000	0.39030	TTC		0.403	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		42	147	0	0	0	0	42	147				
ASAP1	50807	broad.mit.edu	37	8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:131172152T>C	ENST00000518721.1	-	12	1195	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	ASAP1_ENST00000357668.1_Missense_Mutation_p.Y323C	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	323					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCACTGCCATATTCCTTATT	0.438																																						uc003yta.1		NA																	0				ovary(4)	4						c.(967-969)TAT>TGT		development and differentiation enhancing factor							205.0	187.0	193.0					8																	131172152		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131172152T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.968A>G	8.37:g.131172152T>C	ENSP00000429900:p.Tyr323Cys					ASAP1_uc003ysz.1_Missense_Mutation_p.Y134C|ASAP1_uc011liw.1_Missense_Mutation_p.Y316C	p.Y323C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			11	996	-			323					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.968A>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.038266|4.038266	0.75617|0.75617	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.04275	.|3.66;3.66;3.66	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.056069	.|0.64402	.|D	.|0.000001	T|T	0.15132|0.15132	0.0365|0.0365	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.69078	.|0.997;0.997;0.996	.|P;P;P	.|0.59288	.|0.817;0.817;0.855	T|T	0.00075|0.00075	-1.2120|-1.2120	5|10	.|0.87932	.|D	.|0	.|.	14.2889|14.2889	0.66263|0.66263	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|323;323;326	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	M|C	143|326;323;323;293	.|ENSP00000350297:Y323C;ENSP00000429900:Y323C;ENSP00000430588:Y293C	.|ENSP00000344591:Y326C	I|Y	-|-	3|2	3|0	ASAP1|ASAP1	131241334|131241334	1.000000|1.000000	0.71417|0.71417	0.469000|0.469000	0.27204|0.27204	0.998000|0.998000	0.95712|0.95712	5.755000|5.755000	0.68750|0.68750	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.438	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		168	123	0	0	0	0	168	123				
PTK2	5747	broad.mit.edu	37	8	141900671	141900671	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:141900671T>C	ENST00000522684.1	-	3	395	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	PTK2_ENST00000340930.3_Missense_Mutation_p.I56V|PTK2_ENST00000519881.1_Missense_Mutation_p.I56V|PTK2_ENST00000521059.1_Missense_Mutation_p.I56V|PTK2_ENST00000517887.1_Missense_Mutation_p.I100V|PTK2_ENST00000535192.1_Missense_Mutation_p.I56V|PTK2_ENST00000519419.1_Missense_Mutation_p.I100V|PTK2_ENST00000520892.1_Missense_Mutation_p.I56V|PTK2_ENST00000395218.2_Missense_Mutation_p.I56V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	56	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCATGCCTGATAATACTGGCC	0.393																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(166-168)ATC>GTC		PTK2 protein tyrosine kinase 2 isoform a							105.0	94.0	98.0					8																	141900671		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141900671T>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.166A>G	8.37:g.141900671T>C	ENSP00000429911:p.Ile56Val					PTK2_uc003yvs.2_Missense_Mutation_p.I56V|PTK2_uc003yvt.2_Missense_Mutation_p.I78V|PTK2_uc003yvv.2_5'UTR|PTK2_uc011ljr.1_Missense_Mutation_p.I56V	p.I56V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		3	396	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	56			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.166A>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.5|28.5	4.922821|4.922821	0.92319|0.92319	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000524357;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395;ENST00000521332|ENST00000519654	T;T;T;T;T;T;T|.	0.74632|.	-0.78;-0.78;-0.86;-0.78;-0.77;-0.77;-0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Band 4.1 domain (1);FERM domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.41624|.	0.757;0.154;0.261;0.665|.	P;B;B;P|.	0.60236|.	0.871;0.166;0.085;0.759|.	T|T	0.44651|0.44651	-0.9314|-0.9314	10|5	0.02654|.	T|.	1|.	.|.	15.9526|15.9526	0.79855|0.79855	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	56;56;78;56|.	B4E2N6;Q05397;Q658W2;Q8IYN9|.	.;FAK1_HUMAN;.;.|.	V|C	56;56;100;56;56;56;100;56;56;56;56;56;56;56;56;56;56|66	ENSP00000429911:I56V;ENSP00000438009:I56V;ENSP00000429082:I100V;ENSP00000429474:I56V;ENSP00000378644:I56V;ENSP00000341189:I56V;ENSP00000429129:I100V|.	ENSP00000341189:I56V|.	I|Y	-|-	1|2	0|0	PTK2|PTK2	141969853|141969853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.317000|7.317000	0.79018|0.79018	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.393	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		29	104	0	0	0	0	29	104				
TMEM245	23731	broad.mit.edu	37	9	111853316	111853316	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:111853316G>A	ENST00000374586.3	-	5	1067	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	346						integral component of membrane (GO:0016021)											TTCTTTCTAAGAAACGTTCCT	0.507																																						uc004bdt.3		NA																	0				central_nervous_system(1)	1						c.(1036-1038)CTT>TTT		hypothetical protein LOC23731							118.0	121.0	120.0					9																	111853316		1956	4142	6098	SO:0001583	missense	23731					integral to membrane		g.chr9:111853316G>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1036C>T	9.37:g.111853316G>A	ENSP00000363714:p.Leu346Phe					C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.L346F	p.L346F	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	5	1068	-		Myeloproliferative disorder(63;0.204)	346					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1036C>T	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237050	0.58886	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.25579	1.79	5.9	4.02	0.46733	.	0.435177	0.25578	N	0.029705	T	0.33702	0.0872	L	0.57536	1.79	0.36717	D	0.88099	B;B	0.34200	0.441;0.437	B;B	0.41088	0.347;0.157	T	0.28996	-1.0026	10	0.33940	T	0.23	-4.0	16.6388	0.85066	0.0:0.245:0.755:0.0	.	346;346	Q9H330-2;Q9H330	.;CI005_HUMAN	F	346	ENSP00000363714:L346F	ENSP00000223608:L346F	L	-	1	0	C9orf5	110893137	1.000000	0.71417	0.022000	0.16811	0.851000	0.48451	4.062000	0.57492	0.790000	0.33803	0.563000	0.77884	CTT		0.507	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		13	127	0	0	0	0	13	127				
SWI5	375757	broad.mit.edu	37	9	131038579	131038579	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:131038579C>T	ENST00000320188.5	+	1	155	c.155C>T	c.(154-156)cCt>cTt	p.P52L	SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000608796.1_5'UTR|GOLGA2_ENST00000490628.1_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000419867.2_5'UTR|SWI5_ENST00000418976.1_5'UTR	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	52					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GTCAGAGTTCCTGGCCCGGTG	0.701																																						uc004bup.2		NA																	0					0						c.(154-156)CCT>CTT		hypothetical protein LOC375757							12.0	16.0	15.0					9																	131038579		1894	4096	5990	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038579C>T	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.155C>T	9.37:g.131038579C>T	ENSP00000316609:p.Pro52Leu					GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.P52L	p.P52L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			1	155	+			52					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.155C>T	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689956	0.29962	.	.	ENSG00000175854	ENST00000320188	.	.	.	2.86	-1.58	0.08479	.	3.797080	0.00843	N	0.001769	T	0.24967	0.0606	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	9	0.87932	D	0	.	6.6293	0.22847	0.0:0.5216:0.0:0.4784	.	52	Q1ZZU3	SWI5_HUMAN	L	52	.	ENSP00000316609:P52L	P	+	2	0	SWI5	130078400	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.016000	0.12613	-0.330000	0.08514	-0.478000	0.04885	CCT		0.701	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		7	32	0	0	0	0	7	32				
MAGEB4	4115	broad.mit.edu	37	X	30260591	30260591	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:30260591G>A	ENST00000378982.2	+	1	535	c.339G>A	c.(337-339)acG>acA	p.T113T	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGAAGACGAAGATGTTAG	0.443																																						uc004dcb.2		NA																	0				ovary(1)	1						c.(337-339)ACG>ACA		melanoma antigen family B, 4							54.0	40.0	44.0					X																	30260591		2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30260591G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.339G>A	X.37:g.30260591G>A						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.T113T	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	423	+			113			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.339G>A	CCDS14221.1																																																																																				0.443	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		6	2	0	0	0	0	6	2				
HUWE1	10075	broad.mit.edu	37	X	53571556	53571556	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:53571556C>T	ENST00000342160.3	-	71	11673	c.11216G>A	c.(11215-11217)cGg>cAg	p.R3739Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3739Q|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3739					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTGTTAGCCCGGCGCGTGTC	0.537																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(11215-11217)CGG>CAG		HECT, UBA and WWE domain containing 1							70.0	55.0	60.0					X																	53571556		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571556C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11216G>A	X.37:g.53571556C>T	ENSP00000340648:p.Arg3739Gln					HUWE1_uc004dsn.2_Missense_Mutation_p.R2547Q|HUWE1_uc004dsq.1_Missense_Mutation_p.R54Q	p.R3739Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			72	11618	-			3739					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11216G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	15.75	2.925810	0.52759	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.36157	1.27;1.27	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.44265	0.1285	L	0.28274	0.84	0.58432	D	0.999991	B;D;D	0.69078	0.092;0.994;0.997	B;P;D	0.66847	0.014;0.885;0.947	T	0.17501	-1.0367	10	0.13108	T	0.6	.	17.2148	0.86940	0.0:1.0:0.0:0.0	.	576;3739;3723	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	Q	3739	ENSP00000340648:R3739Q;ENSP00000262854:R3739Q	ENSP00000262854:R3739Q	R	-	2	0	HUWE1	53588281	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.028000	0.76470	2.332000	0.79248	0.534000	0.68092	CGG		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	5	0	0	0	0	16	5				
EVI5	7813	broad.mit.edu	37	1	93202126	93202127	+	In_Frame_Ins	INS	-	-	TGT			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:93202126_93202127insTGT	ENST00000370331.1	-	2	118_119	c.109_110insACA	c.(109-111)aca>aACAca	p.36_37insN	EVI5_ENST00000543509.1_In_Frame_Ins_p.36_37insN|EVI5_ENST00000540033.1_In_Frame_Ins_p.36_37insN	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	36	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATGCGATACTGTGTTCTTCACC	0.436																																						uc001dox.2		NA																	0				ovary(1)|breast(1)	2						c.(109-111)ACA>AACACA		ecotropic viral integration site 5																																				SO:0001652	inframe_insertion	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93202126_93202127insTGT	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.110_112dupACA	1.37:g.93202127_93202129dupTGT	ENSP00000359356:p.Asn36_Asn36dup					EVI5_uc010otf.1_In_Frame_Ins_p.36_37insN	p.36_37insN	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	2	119_120	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	36_37			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	In_Frame_Ins	INS	ENST00000370331.1	37	c.109_110insACA	CCDS30774.1																																																																																				0.436	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		56	124	NA	NA	NA	NA	56	124	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70940081	70940081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:70940081delC	ENST00000359655.4	+	1	94	c.34delC	c.(34-36)ctcfs	p.L12fs	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	12					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGGCTCGGCTCCCGGCGGG	0.687																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(34-36)CTCfs		suppressor of var1, 3-like 1 precursor							24.0	28.0	27.0					10																	70940081		2202	4299	6501	SO:0001589	frameshift_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940081delC	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.34delC	10.37:g.70940081delC	ENSP00000352678:p.Leu12fs					SUPV3L1_uc010qjd.1_5'UTR	p.L12fs	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			1	89	+			12					A8K301|O43630	Frame_Shift_Del	DEL	ENST00000359655.4	37	c.34delC	CCDS7287.1																																																																																				0.687	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		22	29	NA	NA	NA	NA	22	29	---	---	---	---
TIAL1	7073	broad.mit.edu	37	10	121341997	121341998	+	In_Frame_Ins	INS	-	-	AGCAGCTAATGC			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121341997_121341998insAGCAGCTAATGC	ENST00000436547.2	-	3	245_246	c.201_202insGCATTAGCTGCT	c.(199-204)gctatg>gctGCATTAGCTGCTatg	p.66_67insAALA	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_In_Frame_Ins_p.83_84insAALA	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCCATTCATAGCAGCTAATG	0.371																																						uc001lei.1		NA																	0				ovary(1)	1						c.(199-204)insGCATTAGCTGCT		TIA-1 related protein isoform 1																																				SO:0001652	inframe_insertion	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121341997_121341998insAGCAGCTAATGC	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.190_201dupGCATTAGCTGCT	10.37:g.121341997_121341998insAGCAGCTAATGC	ENSP00000394902:p.Ala63_Ala66dup					TIAL1_uc001leh.1_In_Frame_Ins_p.45_46insALAA|TIAL1_uc001lej.1_In_Frame_Ins_p.84_85insALAA|TIAL1_uc001lek.1_Translation_Start_Site|TIAL1_uc009xzi.1_Intron|TIAL1_uc010qtb.1_Translation_Start_Site	p.67_68insALAA	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	3	765_766	-		Lung NSC(174;0.094)|all_lung(145;0.123)	67_68			RRM 1.		A8K3T0|A8K4L9	In_Frame_Ins	INS	ENST00000436547.2	37	c.201_202insGCATTAGCTGCT	CCDS7613.1																																																																																				0.371	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		11	185	NA	NA	NA	NA	11	185	---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121563719	121563721	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121563719_121563721delAGA	ENST00000361976.2	+	10	1317_1319	c.1151_1153delAGA	c.(1150-1155)gagaag>gag	p.K385del		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCAGGAAGAGAGAAGATTATTGG	0.36																																						uc001leo.2		NA																	0				ovary(2)	2						c.(1150-1155)GAGAAG>GAG		inositol polyphosphate-5-phosphatase F																																				SO:0001651	inframe_deletion	22876						phosphoric ester hydrolase activity	g.chr10:121563719_121563721delAGA	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1151_1153delAGA	10.37:g.121563722_121563724delAGA	ENSP00000354519:p.Lys385del						p.K385del	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	10	1317_1319	+		Lung NSC(174;0.109)|all_lung(145;0.142)	385			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	In_Frame_Del	DEL	ENST00000361976.2	37	c.1151_1153delAGA	CCDS7616.1																																																																																				0.360	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		40	90	NA	NA	NA	NA	40	90	---	---	---	---
NPLOC4	55666	broad.mit.edu	37	17	79532588	79532588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:79532588delC	ENST00000331134.6	-	16	1827	c.1612delG	c.(1612-1614)gagfs	p.E538fs	NPLOC4_ENST00000374747.5_Frame_Shift_Del_p.E538fs|NPLOC4_ENST00000573876.1_Frame_Shift_Del_p.R2fs|NPLOC4_ENST00000572760.1_Frame_Shift_Del_p.R2fs|NPLOC4_ENST00000539314.1_Frame_Shift_Del_p.E377fs	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	538					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGGCGAGCTCCTCATTTCTG	0.622																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1612-1614)GAGfs		nuclear protein localization 4							19.0	23.0	22.0					17																	79532588		2046	4167	6213	SO:0001589	frameshift_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79532588delC	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1612delG	17.37:g.79532588delC	ENSP00000331487:p.Glu538fs					NPLOC4_uc002kau.3_Frame_Shift_Del_p.E538fs|NPLOC4_uc010wur.1_Frame_Shift_Del_p.E377fs|NPLOC4_uc002kar.2_5'Flank|NPLOC4_uc010dic.2_RNA|NPLOC4_uc002kas.2_Frame_Shift_Del_p.R61fs	p.E538fs	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		16	1794	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		538					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Frame_Shift_Del	DEL	ENST00000331134.6	37	c.1612delG	CCDS45812.1																																																																																				0.622	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28919849	28919849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:28919849delT	ENST00000257192.4	+	11	1760	c.1548delT	c.(1546-1548)gatfs	p.D516fs		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	516					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTAACTATGATACCAGCACAA	0.398																																						uc002kwp.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1546-1548)GATfs		desmoglein 1 preproprotein							129.0	127.0	127.0					18																	28919849		2203	4300	6503	SO:0001589	frameshift_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28919849delT	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1548delT	18.37:g.28919849delT	ENSP00000257192:p.Asp516fs						p.D516fs	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		11	1760	+			516			Extracellular (Potential).		B7Z845	Frame_Shift_Del	DEL	ENST00000257192.4	37	c.1548delT	CCDS11896.1																																																																																				0.398	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		48	107	NA	NA	NA	NA	48	107	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13763275	13763275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13763275delT	ENST00000202816.1	-	2	619	c.512delA	c.(511-513)aacfs	p.N171fs	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGAACAATGTTTTTTTTCTC	0.318																																						uc002woj.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(511-513)AACfs		ABT1-associated protein				16,4244		6,4,2120	44.0	45.0	45.0			-6.7	0.0	20		46	15,8227		6,3,4112	no	frameshift	ESF1	NM_016649.3		12,7,6232	A1A1,A1R,RR		0.182,0.3756,0.248			13763275	31,12471	2201	4297	6498	SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763275delT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.512delA	20.37:g.13763275delT	ENSP00000202816:p.Asn171fs					ESF1_uc002wok.1_Frame_Shift_Del_p.N171fs|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	p.N171fs	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			2	620	-			171					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Del	DEL	ENST00000202816.1	37	c.512delA	CCDS13117.1																																																																																				0.318	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		9	25	NA	NA	NA	NA	9	25	---	---	---	---
