#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11562047	11562047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:11562047G>T	ENST00000294484.6	+	2	1136	c.998G>T	c.(997-999)tGc>tTc	p.C333F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C333F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	333					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.C550F(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TACTCCTACTGCTCGCCCCCC	0.622																																							uc001ash.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(997-999)TGC>TTC		patched domain containing 2							38.0	41.0	40.0					1																	11562047		1961	4132	6093	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562047G>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.998G>T	1.37:g.11562047G>T	ENSP00000294484:p.Cys333Phe					PTCHD2_uc001asi.1_Missense_Mutation_p.C333F	p.C333F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	1136	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	333			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.998G>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709540	0.68730	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.60548	0.18;0.18	5.42	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.69921	-0.5014	10	0.87932	D	0	-31.7236	14.7324	0.69391	0.0:0.0:0.8545:0.1455	.	333	Q9P2K9	PTHD2_HUMAN	F	333	ENSP00000294484:C333F;ENSP00000374226:C333F	ENSP00000294484:C333F	C	+	2	0	PTCHD2	11484634	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.706000	0.98722	1.277000	0.44412	0.655000	0.94253	TGC		0.622	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	48	1	0	3.59834e-05	0.001168	4.318e-05	5	48				
UBXN10	127733	broad.mit.edu	37	1	20517245	20517245	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:20517245C>T	ENST00000375099.3	+	2	275	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	64								p.P64L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CATCATATACCATCTCCGCCT	0.537																																							uc001bdb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(190-192)CCA>CTA		UBX domain protein 10							94.0	88.0	90.0					1																	20517245		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517245C>T	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.191C>T	1.37:g.20517245C>T	ENSP00000364240:p.Pro64Leu						p.P64L	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN			2	275	+			64					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.191C>T	CCDS205.1	.	.	.	.	.	.	.	.	.	.	C	6.280	0.419714	0.11928	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.39	1.42	0.22433	.	0.091361	0.43919	N	0.000501	T	0.40119	0.1104	L	0.55834	1.745	0.09310	N	0.999998	B	0.12630	0.006	B	0.12837	0.008	T	0.39099	-0.9630	9	0.87932	D	0	-1.9259	8.9183	0.35596	0.0:0.6925:0.0:0.3075	.	64	Q96LJ8	UBX10_HUMAN	L	64	.	ENSP00000364240:P64L	P	+	2	0	UBXN10	20389832	0.039000	0.19947	0.000000	0.03702	0.014000	0.08584	0.738000	0.26158	0.009000	0.14813	-0.136000	0.14681	CCA		0.537	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		9	76	0	0	0	0.008291	0	9	76				
EIF4G3	8672	broad.mit.edu	37	1	21212859	21212859	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:21212859C>A	ENST00000264211.8	-	13	2285	c.2091G>T	c.(2089-2091)ttG>ttT	p.L697F	EIF4G3_ENST00000602326.1_Missense_Mutation_p.L703F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L697F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L703F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L417F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.L187F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.L301F	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	697					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L697F(1)|p.L703F(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACCCAACATTCAACAACTAGG	0.398																																							uc001bec.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2089-2091)TTG>TTT		eukaryotic translation initiation factor 4							135.0	134.0	134.0					1																	21212859		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21212859C>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2091G>T	1.37:g.21212859C>A	ENSP00000264211:p.Leu697Phe					EIF4G3_uc010odi.1_Missense_Mutation_p.L301F|EIF4G3_uc010odj.1_Missense_Mutation_p.L696F|EIF4G3_uc009vpz.2_Missense_Mutation_p.L417F|EIF4G3_uc001bed.2_Missense_Mutation_p.L697F|EIF4G3_uc001bef.2_Missense_Mutation_p.L733F|EIF4G3_uc001bee.2_Missense_Mutation_p.L703F	p.L697F	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	14	2347	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	697					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2091G>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835778	0.50951	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.06933	3.77;3.77;3.61;3.24;3.76;3.47	5.2	4.29	0.51040	.	0.000000	0.50627	D	0.000108	T	0.22975	0.0555	L	0.57536	1.79	0.80722	D	1	D;P;P;D	0.76494	0.999;0.93;0.857;0.982	D;P;P;P	0.65987	0.94;0.67;0.58;0.798	T	0.00666	-1.1619	10	0.56958	D	0.05	-1.9885	13.9928	0.64378	0.0:0.9266:0.0:0.0734	.	892;417;703;697	Q59GJ0;Q504Z1;B9EGQ7;O43432	.;.;.;IF4G3_HUMAN	F	697;893;697;417;187;703;301	ENSP00000264211:L697F;ENSP00000383274:L697F;ENSP00000364071:L417F;ENSP00000442010:L187F;ENSP00000364073:L703F;ENSP00000444693:L301F	ENSP00000264211:L697F	L	-	3	2	EIF4G3	21085446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.429000	0.52800	1.318000	0.45170	0.655000	0.94253	TTG		0.398	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		8	270	1	0	0.00307968	0.00308	0.00335965	8	270				
C1orf94	84970	broad.mit.edu	37	1	34677938	34677938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:34677938C>A	ENST00000488417.1	+	6	1772	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	C1orf94_ENST00000373374.3_Missense_Mutation_p.S361Y	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	551								p.S551Y(2)|p.S361Y(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAAGATGTCTGCCAACCCC	0.567																																							uc001bxs.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1081-1083)TCT>TAT		hypothetical protein LOC84970 isoform b							128.0	109.0	115.0					1																	34677938		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34677938C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1652C>A	1.37:g.34677938C>A	ENSP00000435634:p.Ser551Tyr					C1orf94_uc001bxt.2_Missense_Mutation_p.S551Y	p.S361Y	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			6	1481	+		Myeloproliferative disorder(586;0.0393)	361					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1082C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	c	15.46	2.841161	0.51057	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.26373	1.77;1.74	5.18	4.26	0.50523	.	0.544743	0.17519	N	0.171333	T	0.36524	0.0970	L	0.51422	1.61	0.09310	N	1	D	0.54207	0.965	P	0.54312	0.748	T	0.12041	-1.0563	10	0.56958	D	0.05	-8.1787	11.7848	0.52037	0.0:0.8226:0.1774:0.0	.	551	Q6P1W5	CA094_HUMAN	Y	361;551	ENSP00000362472:S361Y;ENSP00000435634:S551Y	ENSP00000362472:S361Y	S	+	2	0	C1orf94	34450525	0.544000	0.26441	0.060000	0.19600	0.971000	0.66376	2.897000	0.48664	1.163000	0.42636	0.651000	0.88453	TCT		0.567	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		5	64	1	0	0.00307968	0.00308	0.00335965	5	64				
FUBP1	8880	broad.mit.edu	37	1	78430042	78430042	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:78430042C>A	ENST00000370768.2	-	11	919		c.e11-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370767.1_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.?(2)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAATGGGGACCTTATGTAAAA	0.338			"""F, N"""		oligodendroglioma																																		uc001dii.2		NA		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					2	Unknown(2)		lung(2)	central_nervous_system(2)|lung(1)	3						c.e11-1		far upstream element-binding protein							45.0	45.0	45.0					1																	78430042		2202	4300	6502	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430042C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.838-1G>T	1.37:g.78430042C>A						FUBP1_uc001dih.3_Splice_Site|FUBP1_uc010orm.1_Splice_Site_p.V301_splice	p.V280_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			11	927	-								Q12828	Splice_Site	SNP	ENST00000370768.2	37	c.838_splice	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192697	0.78902	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.62	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5907	0.68362	0.0:0.9299:0.0:0.0701	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78202630	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.684000	0.84104	1.374000	0.46228	0.650000	0.86243	.		0.338	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Intron	8	62	1	0	0.00448238	0.004482	0.00484979	8	62				
COL24A1	255631	broad.mit.edu	37	1	86512537	86512537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:86512537G>T	ENST00000370571.2	-	12	2287	c.1921C>A	c.(1921-1923)Cgt>Agt	p.R641S	COL24A1_ENST00000436319.1_Missense_Mutation_p.R641S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	641			R -> H (in dbSNP:rs60891279).		extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R641S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ttctttccacggatcccagga	0.313																																							uc001dlj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1921-1923)CGT>AGT		collagen, type XXIV, alpha 1 precursor							111.0	111.0	111.0					1																	86512537		1804	4062	5866	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86512537G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1921C>A	1.37:g.86512537G>T	ENSP00000359603:p.Arg641Ser					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R641S	p.R641S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	12	1963	-			641					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1921C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425818	0.25726	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94897	-3.55;-3.55	4.22	4.22	0.49857	.	0.000000	0.38272	N	0.001752	T	0.75975	0.3923	N	0.10733	0.035	0.30003	N	0.815808	B;B	0.25351	0.124;0.021	B;B	0.23852	0.027;0.049	T	0.62826	-0.6772	10	0.09590	T	0.72	.	12.3912	0.55360	0.0:0.0:1.0:0.0	.	641;641	F8WDM8;Q17RW2	.;COOA1_HUMAN	S	641	ENSP00000359603:R641S;ENSP00000392531:R641S	ENSP00000359603:R641S	R	-	1	0	COL24A1	86285125	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.817000	0.55668	2.616000	0.88540	0.655000	0.94253	CGT		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		12	155	1	0	4.36969e-10	0.016723	6.74619e-10	12	155				
PLPPR5	163404	broad.mit.edu	37	1	99418685	99418685	+	Silent	SNP	G	G	T	rs368223363		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:99418685G>T	ENST00000263177.4	-	3	783	c.562C>A	c.(562-564)Cga>Aga	p.R188R	LPPR5_ENST00000370188.3_Silent_p.R188R	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		188						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R188R(2)									AAGGTTTTTCGGGCTCTCATG	0.423																																							uc001dsb.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(562-564)CGA>AGA		phosphatidic acid phosphatase type 2d isoform 1		G	,	0,4406		0,0,2203	128.0	114.0	119.0		562,562	-0.6	0.2	1		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPPR5	NM_001010861.2,NM_001037317.1	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	188/317,188/322	99418685	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	163404					integral to membrane	hydrolase activity	g.chr1:99418685G>T																												ENST00000263177.4:c.562C>A	1.37:g.99418685G>T						LPPR5_uc001dsc.2_Silent_p.R188R	p.R188R	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	784	-			188					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.562C>A	CCDS30778.1																																																																																				0.423	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			11	113	1	0	3.07112e-06	0.010729	3.84254e-06	11	113				
AMYP1	281	broad.mit.edu	37	1	104260732	104260732	+	IGR	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:104260732G>T								AMY1B (21656 upstream) : AMY1C (32295 downstream)																							GCCAAATAAGGTGAGAATATG	0.333																																							uc010our.1		NA																	0					NA						c.e4+1		pancreatic amylase alpha 2A precursor																																				SO:0001628	intergenic_variant	0							g.chr1:104260732G>T																													1.37:g.104260732G>T							p.R119_splice	NM_000699	NP_000690					4	478	+									Splice_Site	SNP		37	c.356_splice		.	.	.	.	.	.	.	.	.	.	-	12.51	1.958943	0.34565	.	.	ENSG00000237763	ENST00000332554	.	.	.	2.21	2.21	0.28008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7631	0.57376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMY1A	104062255	1.000000	0.71417	0.807000	0.32361	0.543000	0.35085	8.884000	0.92432	1.221000	0.43506	0.393000	0.25936	.	0	0.333									34	581	1	0	3.77016e-25	0.013114	7.59788e-25	34	581				
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:111146525G>A	ENST00000485317.1	-	3	1553	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	KCNA2_ENST00000440270.1_Missense_Mutation_p.R294C|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294C|KCNA2_ENST00000369770.3_Missense_Mutation_p.R294C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CGGATGACACGGAGGATGGCC	0.537																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(880-882)CGT>TGT		potassium voltage-gated channel, shaker-related							103.0	103.0	103.0					1																	111146525		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146525G>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.880C>T	1.37:g.111146525G>A	ENSP00000433109:p.Arg294Cys					KCNA2_uc009wfv.1_Missense_Mutation_p.R294C|KCNA2_uc009wfw.2_Missense_Mutation_p.R294C	p.R294C	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1376	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	294			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.880C>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830929	0.50845	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.99060	-5.03;-5.38;-5.38;-5.38	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.968	D	0.97285	0.9920	10	0.87932	D	0	.	14.991	0.71387	0.0:0.0:0.8575:0.1425	.	294;294	Q86XG6;P16389	.;KCNA2_HUMAN	C	294	ENSP00000358785:R294C;ENSP00000433109:R294C;ENSP00000415257:R294C;ENSP00000314520:R294C	ENSP00000314520:R294C	R	-	1	0	KCNA2	110948048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.359000	0.52292	2.785000	0.95823	0.655000	0.94253	CGT		0.537	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		11	140	0	0	0	0.00499	0	11	140				
NBPF7	343505	broad.mit.edu	37	1	120384102	120384102	+	IGR	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:120384102C>A								REG4 (29819 upstream) : ADAM30 (52053 downstream)														p.D154Y(2)									TCATGCTTATCCGGAGTGAGA	0.567																																							uc010oxk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(460-462)GAT>TAT		hypothetical protein LOC343505							113.0	127.0	122.0					1																	120384102		2202	4300	6502	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120384102C>A																													1.37:g.120384102C>A							p.D154Y	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	3	1081	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	154						Missense_Mutation	SNP		37	c.460G>T																																																																																				0	0.567									24	179	1	0	9.57634e-11	0.01892	1.55101e-10	24	179				
ADAM30	11085	broad.mit.edu	37	1	120438759	120438759	+	Missense_Mutation	SNP	C	C	A	rs587767623		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:120438759C>A	ENST00000369400.1	-	1	359	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCCTTTTAACTGCAGTAGGT	0.542																																							uc001eij.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(199-201)CAG>CAT		ADAM metallopeptidase domain 30 preproprotein							87.0	79.0	82.0					1																	120438759		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438759C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.201G>T	1.37:g.120438759C>A	ENSP00000358407:p.Gln67His						p.Q67H	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	355	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	67					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.201G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	5.418	0.262273	0.10239	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.06218	3.33	4.75	-0.856	0.10697	Peptidase M12B, propeptide (1);	1.252050	0.05968	N	0.641867	T	0.01627	0.0052	L	0.42581	1.335	0.09310	N	1	B	0.09022	0.002	B	0.16722	0.016	T	0.47947	-0.9077	10	0.16420	T	0.52	.	5.9714	0.19355	0.0:0.336:0.4755:0.1884	.	67	Q9UKF2	ADA30_HUMAN	H	67	ENSP00000358407:Q67H	ENSP00000358407:Q67H	Q	-	3	2	ADAM30	120240282	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.334000	0.07883	0.190000	0.20209	0.455000	0.32223	CAG		0.542	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		18	98	1	0	0.000132079	0.008871	0.000154287	18	98				
SEMA4A	64218	broad.mit.edu	37	1	156126349	156126349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:156126349C>G	ENST00000368285.3	+	3	551	c.284C>G	c.(283-285)cCc>cGc	p.P95R	SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P95R|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P95R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	95	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P95R(2)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGGGTCCCCAGGCTAAAG	0.567																																							uc001fnl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(283-285)CCC>CGC		semaphorin B precursor							48.0	47.0	47.0					1																	156126349		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156126349C>G	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.284C>G	1.37:g.156126349C>G	ENSP00000357268:p.Pro95Arg					SEMA4A_uc009wrq.2_Missense_Mutation_p.P95R|SEMA4A_uc001fnm.2_Missense_Mutation_p.P95R|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.P95R	p.P95R	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			3	388	+	Hepatocellular(266;0.158)		95			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.284C>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	7.506	0.653687	0.14580	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	4.97	1.52	0.23074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.400861	0.23312	N	0.049554	T	0.02455	0.0075	L	0.37800	1.135	0.35753	D	0.819596	B	0.06786	0.001	B	0.14023	0.01	T	0.35919	-0.9769	10	0.17369	T	0.5	.	7.6494	0.28340	0.0:0.6569:0.0:0.3431	.	95	Q9H3S1	SEM4A_HUMAN	R	95;95;95;57;57;95;95	ENSP00000401391:P95R;ENSP00000347117:P95R;ENSP00000357268:P95R;ENSP00000392865:P95R;ENSP00000357265:P95R	ENSP00000347117:P95R	P	+	2	0	SEMA4A	154392973	0.000000	0.05858	0.970000	0.41538	0.023000	0.10783	0.047000	0.14056	0.604000	0.29930	-0.444000	0.05651	CCC		0.567	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		15	43	0	0	0	0.00499	0	15	43				
FCRL1	115350	broad.mit.edu	37	1	157771827	157771827	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:157771827G>A	ENST00000368176.3	-	5	831	c.764C>T	c.(763-765)cCc>cTc	p.P255L	FCRL1_ENST00000491942.1_Missense_Mutation_p.P255L|FCRL1_ENST00000358292.3_Missense_Mutation_p.P255L|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	255	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P255L(4)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTCCAGAGGGGGCCGACCT	0.582																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(4)|ovary(3)	7						c.(763-765)CCC>CTC		Fc receptor-like 1 isoform 1 precursor							55.0	59.0	58.0					1																	157771827		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771827G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.764C>T	1.37:g.157771827G>A	ENSP00000357158:p.Pro255Leu					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.P255L|FCRL1_uc001fri.2_Missense_Mutation_p.P255L|FCRL1_uc001frj.2_RNA	p.P255L	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	877	-	all_hematologic(112;0.0378)		255			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.764C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817695	0.50633	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.02863	4.13;4.13;4.13	5.1	-0.28	0.12886	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.731496	0.13263	N	0.401175	T	0.03827	0.0108	M	0.69248	2.105	0.09310	N	0.999999	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.78314	0.958;0.991;0.99	T	0.31861	-0.9928	9	.	.	.	.	4.6882	0.12767	0.1642:0.0:0.413:0.4227	.	255;255;255	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	L	255	ENSP00000351039:P255L;ENSP00000357158:P255L;ENSP00000418130:P255L	.	P	-	2	0	FCRL1	156038451	0.000000	0.05858	0.007000	0.13788	0.899000	0.52679	0.264000	0.18497	-0.108000	0.12066	0.650000	0.86243	CCC		0.582	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		33	99	0	0	0	0.012213	0	33	99				
CD1D	912	broad.mit.edu	37	1	158152847	158152847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158152847C>A	ENST00000368171.3	+	5	1286	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	263	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.L263I(2)|p.L263F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACATGGTATCTCCGAGCAAC	0.617																																							uc001frr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(787-789)CTC>ATC		CD1D antigen precursor							126.0	111.0	116.0					1																	158152847		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152847C>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.787C>A	1.37:g.158152847C>A	ENSP00000357153:p.Leu263Ile					CD1D_uc009wss.2_Intron	p.L263I	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1286	+	all_hematologic(112;0.0378)		263			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.787C>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663553	0.67700	.	.	ENSG00000158473	ENST00000368171	T	0.03065	4.06	5.18	4.24	0.50183	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.161682	0.29676	N	0.011488	T	0.07548	0.0190	L	0.60067	1.865	0.35240	D	0.777767	D	0.76494	0.999	D	0.91635	0.999	T	0.03761	-1.1006	10	0.62326	D	0.03	-21.8534	11.657	0.51324	0.0:0.8202:0.1798:0.0	.	263	P15813	CD1D_HUMAN	I	263	ENSP00000357153:L263I	ENSP00000357153:L263I	L	+	1	0	CD1D	156419471	0.994000	0.37717	0.975000	0.42487	0.678000	0.39670	0.770000	0.26618	1.234000	0.43709	0.655000	0.94253	CTC		0.617	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		26	107	1	0	6.38683e-12	0.008361	1.07396e-11	26	107				
OR6K6	128371	broad.mit.edu	37	1	158724748	158724748	+	Missense_Mutation	SNP	C	C	A	rs531610805		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:158724748C>A	ENST00000368144.2	+	1	239	c.143C>A	c.(142-144)gCg>gAg	p.A48E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A48E(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCCGCATGCGCACAGAGGT	0.453																																							uc001fsw.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(142-144)GCG>GAG		olfactory receptor, family 6, subfamily K,							205.0	190.0	195.0					1																	158724748		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724748C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.143C>A	1.37:g.158724748C>A	ENSP00000357126:p.Ala48Glu						p.A48E	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	143	+	all_hematologic(112;0.0378)		48			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.143C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093792	0.01858	.	.	ENSG00000180433	ENST00000368144	T	0.01584	4.75	5.11	1.6	0.23607	.	0.900205	0.09036	N	0.858001	T	0.00328	0.0010	N	0.03999	-0.3	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39482	-0.9612	10	0.25106	T	0.35	0.3143	4.6668	0.12670	0.1366:0.2469:0.0:0.6165	.	48	Q8NGW6	OR6K6_HUMAN	E	48	ENSP00000357126:A48E	ENSP00000357126:A48E	A	+	2	0	OR6K6	156991372	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.132000	0.03235	0.107000	0.17824	-1.074000	0.02243	GCG		0.453	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		33	277	1	0	9.17885e-22	0.015359	1.80837e-21	33	277				
NIT1	4817	broad.mit.edu	37	1	161088936	161088937	+	Missense_Mutation	DNP	GG	GG	TT	rs144963228	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:161088936_161088937GG>TT	ENST00000368009.2	+	3	187_188	c.111_112GG>TT	c.(109-114)atGGct>atTTct	p.37_38MA>IS	NIT1_ENST00000368008.1_Missense_Mutation_p.37_38MA>IS|NIT1_ENST00000368007.4_Missense_Mutation_p.22_23MA>IS|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000496861.1_3'UTR|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Start_Codon_SNP_p.1_2MA>IS|PFDN2_ENST00000368010.3_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	37					nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)	p.M37_A38>IS(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGCCATGGCTATCTCCTC	0.515																																							uc001fxv.1		NA																	2	Complex - compound substitution(2)		lung(2)		0						c.(109-114)ATGGCT>ATTTCT		nitrilase 1																																				SO:0001583	missense	4817				nitrogen compound metabolic process	mitochondrion	nitrilase activity	g.chr1:161088936_161088937GG>TT	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	Exception_encountered	1.37:g.161088936_161088937delinsTT	ENSP00000356988:p.M37_A38delinsIS					PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Missense_Mutation_p.37_38MA>IS|NIT1_uc001fxx.1_Missense_Mutation_p.1_2MA>IS|NIT1_uc001fxy.1_Missense_Mutation_p.1_2MA>IS|NIT1_uc010pka.1_Missense_Mutation_p.22_23MA>IS	p.37_38MA>IS	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	187_188	+	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		37_38					B1AQP3|D3DVF4|O76091	Missense_Mutation	DNP	ENST00000368009.2	37	c.111_112GG>TT	CCDS1218.1																																																																																				0.515	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			31	126	0	0	0	0.004672	0	31	126				
DUSP27	92235	broad.mit.edu	37	1	167096659	167096659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:167096659G>T	ENST00000361200.2	+	6	2457	c.2291G>T	c.(2290-2292)gGg>gTg	p.G764V	DUSP27_ENST00000271385.5_Missense_Mutation_p.G764V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G764V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	764					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCTGCCTGGGGGATGACCAA	0.567																																							uc001geb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2290-2292)GGG>GTG		dual specificity phosphatase 27							75.0	63.0	67.0					1																	167096659		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096659G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2291G>T	1.37:g.167096659G>T	ENSP00000354483:p.Gly764Val						p.G764V	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2291	+			764					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2291G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281598	0.40394	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03745	3.82;3.82;3.82	4.82	3.9	0.45041	.	1.249880	0.05734	N	0.600193	T	0.06142	0.0159	M	0.63428	1.95	0.53688	D	0.999973	D	0.71674	0.998	P	0.62014	0.897	T	0.42361	-0.9456	10	0.66056	D	0.02	-35.6626	3.8319	0.08877	0.2033:0.226:0.5707:0.0	.	764	Q5VZP5	DUS27_HUMAN	V	764	ENSP00000354483:G764V;ENSP00000271385:G764V;ENSP00000404874:G764V	ENSP00000271385:G764V	G	+	2	0	DUSP27	165363283	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	4.048000	0.57390	1.211000	0.43351	0.643000	0.83706	GGG		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		9	71	1	0	1.49906e-05	0.020292	1.82374e-05	9	71				
TNR	7143	broad.mit.edu	37	1	175325510	175325510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:175325510C>A	ENST00000367674.2	-	16	3771	c.3063G>T	c.(3061-3063)atG>atT	p.M1021I	TNR_ENST00000263525.2_Missense_Mutation_p.M1021I			Q92752	TENR_HUMAN	tenascin R	1021	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.M1021I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGGCATACATGGTGGCAG	0.507																																							uc001gkp.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3061-3063)ATG>ATT		tenascin R precursor							234.0	194.0	208.0					1																	175325510		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325510C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3063G>T	1.37:g.175325510C>A	ENSP00000356646:p.Met1021Ile					TNR_uc009wwu.1_Missense_Mutation_p.M1021I	p.M1021I	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3144	-	Renal(580;0.146)		1021			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3063G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	7.745	0.702177	0.15172	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.50548	0.74;0.74	5.77	5.77	0.91146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.166361	0.53938	D	0.000042	T	0.39809	0.1092	L	0.29908	0.895	0.43259	D	0.995192	B	0.33612	0.419	B	0.38156	0.266	T	0.21177	-1.0253	10	0.34782	T	0.22	.	12.8783	0.58001	0.0:0.9251:0.0:0.0749	.	1021	Q92752	TENR_HUMAN	I	1021;1021;931	ENSP00000356646:M1021I;ENSP00000263525:M1021I	ENSP00000263525:M1021I	M	-	3	0	TNR	173592133	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.446000	0.35090	2.728000	0.93425	0.655000	0.94253	ATG		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		26	137	1	0	4.26978e-12	0.01892	7.22578e-12	26	137				
ANGPTL1	9068	broad.mit.edu	37	1	178834573	178834573	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:178834573C>G	ENST00000234816.2	-	3	786	c.339G>C	c.(337-339)gtG>gtC	p.V113V	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.V113V	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	113					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.V113V(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTACCTCATTCACAATGTTTC	0.438																																							uc001gma.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(337-339)GTG>GTC		angiopoietin-like 1 precursor							177.0	165.0	169.0					1																	178834573		2203	4300	6503	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834573C>G	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.339G>C	1.37:g.178834573C>G						RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.V113V|ANGPTL1_uc010pnc.1_Silent_p.V35V	p.V113V	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	815	-			113			Potential.		Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.339G>C	CCDS1327.1																																																																																				0.438	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		8	172	0	0	0	0.004482	0	8	172				
TDRD5	163589	broad.mit.edu	37	1	179562935	179562935	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:179562935C>A	ENST00000367614.1	+	3	932	c.573C>A	c.(571-573)acC>acA	p.T191T	TDRD5_ENST00000444136.1_Silent_p.T191T|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.T191T	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	191	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGAGCAGACCAGAGCAGGTT	0.433																																							uc001gnf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(571-573)ACC>ACA		tudor domain containing 5							94.0	95.0	95.0					1																	179562935		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562935C>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.573C>A	1.37:g.179562935C>A						TDRD5_uc010pnp.1_Silent_p.T191T	p.T191T	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			3	823	+			191			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.573C>A	CCDS1332.1																																																																																				0.433	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		48	106	1	0	2.24722e-20	0.01441	4.33041e-20	48	106				
BRINP3	339479	broad.mit.edu	37	1	190423996	190423996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:190423996C>A	ENST00000367462.3	-	2	256	c.25G>T	c.(25-27)Gct>Tct	p.A9S	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	9					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.A9S(2)									AACAATTCAGCACCAGCTCTG	0.478																																							uc001gse.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(25-27)GCT>TCT		family with sequence similarity 5, member C							76.0	76.0	76.0					1																	190423996		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423996C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.25G>T	1.37:g.190423996C>A	ENSP00000356432:p.Ala9Ser					FAM5C_uc010pot.1_5'UTR	p.A9S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	257	-	Prostate(682;0.198)		9					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.25G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273742	0.59649	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.44083	2.54;0.93	5.57	5.57	0.84162	.	0.086755	0.47093	D	0.000257	T	0.27419	0.0673	N	0.08118	0	0.80722	D	1	B	0.26635	0.155	B	0.23852	0.049	T	0.10567	-1.0624	10	0.54805	T	0.06	.	17.0468	0.86505	0.0:1.0:0.0:0.0	.	9	Q76B58	FAM5C_HUMAN	S	9	ENSP00000356432:A9S;ENSP00000393441:A9S	ENSP00000356432:A9S	A	-	1	0	FAM5C	188690619	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.592000	0.61027	2.621000	0.88768	0.655000	0.94253	GCT		0.478	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		17	53	1	0	8.10497e-08	0.010504	1.13815e-07	17	53				
ASPM	259266	broad.mit.edu	37	1	197057403	197057403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:197057403T>A	ENST00000367409.4	-	26	10400	c.10144A>T	c.(10144-10146)Aca>Tca	p.T3382S	ASPM_ENST00000367408.1_Missense_Mutation_p.T1047S|ASPM_ENST00000294732.7_Missense_Mutation_p.T1797S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3382					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.T3382S(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTATTTGTTGTCTTCAGTAAA	0.333																																							uc001gtu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(10144-10146)ACA>TCA		asp (abnormal spindle)-like, microcephaly							71.0	74.0	73.0					1																	197057403		2201	4299	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197057403T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10144A>T	1.37:g.197057403T>A	ENSP00000356379:p.Thr3382Ser					ASPM_uc001gtv.2_Missense_Mutation_p.T1797S|ASPM_uc001gtw.3_Missense_Mutation_p.T1230S	p.T3382S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			26	10401	-			3382					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.10144A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	6.810	0.518615	0.13005	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.57107	0.42;1.71;1.4	5.87	1.05	0.20165	.	0.405681	0.25388	N	0.031029	T	0.27559	0.0677	L	0.38531	1.155	0.09310	N	0.999994	P;B;P	0.44478	0.483;0.146;0.836	B;B;B	0.34873	0.057;0.039;0.191	T	0.31971	-0.9924	10	0.07325	T	0.83	.	4.242	0.10652	0.0:0.3577:0.1828:0.4594	.	1368;1797;3382	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	S	3382;1797;1047;1368	ENSP00000356379:T3382S;ENSP00000294732:T1797S;ENSP00000356378:T1047S	ENSP00000294732:T1797S	T	-	1	0	ASPM	195324026	1.000000	0.71417	0.309000	0.25155	0.013000	0.08279	2.379000	0.44318	0.138000	0.18790	-0.321000	0.08615	ACA		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		21	210	0	0	0	0.010504	0	21	210				
PPP1R15B	84919	broad.mit.edu	37	1	204375279	204375279	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:204375279T>C	ENST00000367188.4	-	2	2462	c.2083A>G	c.(2083-2085)Atg>Gtg	p.M695V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	695					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.M695V(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTATTAAACATTCTTTCTCTG	0.403																																							uc001hav.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2083-2085)ATG>GTG		protein phosphatase 1, regulatory subunit 15B							183.0	170.0	175.0					1																	204375279		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204375279T>C	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.2083A>G	1.37:g.204375279T>C	ENSP00000356156:p.Met695Val						p.M695V	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		2	2488	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		695					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.2083A>G	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	5.370	0.253550	0.10185	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.21361	2.01	5.55	0.348	0.16026	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.461255	0.25639	N	0.029295	T	0.09512	0.0234	N	0.11818	0.18	0.21719	N	0.999575	B	0.10296	0.003	B	0.12837	0.008	T	0.38779	-0.9645	10	0.10377	T	0.69	0.5057	10.4639	0.44596	0.0:0.3386:0.0:0.6614	.	695	Q5SWA1	PR15B_HUMAN	V	695;605	ENSP00000356156:M695V	ENSP00000356156:M695V	M	-	1	0	PPP1R15B	202641902	0.511000	0.26179	0.366000	0.25914	0.886000	0.51366	0.984000	0.29565	-0.188000	0.10499	-0.899000	0.02877	ATG		0.403	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		69	176	0	0	0	0.01441	0	69	176				
SLC26A9	115019	broad.mit.edu	37	1	205897047	205897047	+	Missense_Mutation	SNP	C	C	T	rs201843123	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:205897047C>T	ENST00000367135.3	-	9	1197	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	SLC26A9_ENST00000340781.4_Missense_Mutation_p.D362N|SLC26A9_ENST00000367134.2_Missense_Mutation_p.D362N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	362					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.D362N(4)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAATCCACGTCGTAGCCGTGC	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20117	0.002		0.0	False		,,,				2504	0.0						uc001hdq.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(1084-1086)GAC>AAC		solute carrier family 26, member 9 isoform a							117.0	100.0	106.0					1																	205897047		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897047C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1084G>A	1.37:g.205897047C>T	ENSP00000356103:p.Asp362Asn					SLC26A9_uc001hdo.2_Missense_Mutation_p.D30N|SLC26A9_uc001hdp.2_Missense_Mutation_p.D362N	p.D362N	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1198	-	Breast(84;0.201)		362					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1084G>A	CCDS30990.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.949	0.967665	0.18659	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93019	-3.15;-3.15;-3.15	5.08	1.02	0.19986	Sulphate transporter (1);	0.063358	0.64402	D	0.000017	D	0.84570	0.5501	N	0.21194	0.64	0.21915	N	0.999473	B;B	0.23185	0.047;0.081	B;B	0.17722	0.012;0.019	T	0.68394	-0.5420	10	0.13108	T	0.6	.	10.2502	0.43364	0.0:0.7174:0.0:0.2826	.	362;362	Q7LBE3;B1AVM8	S26A9_HUMAN;.	N	362	ENSP00000341682:D362N;ENSP00000356103:D362N;ENSP00000356102:D362N	ENSP00000341682:D362N	D	-	1	0	SLC26A9	204163670	0.559000	0.26562	0.142000	0.22268	0.534000	0.34807	0.306000	0.19279	0.313000	0.23062	-0.137000	0.14449	GAC		0.587	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		13	108	0	0	0	0.004007	0	13	108				
TRIM11	81559	broad.mit.edu	37	1	228584677	228584677	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:228584677C>A	ENST00000284551.6	-	5	1108	c.830G>T	c.(829-831)gGa>gTa	p.G277V	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Missense_Mutation_p.G277V|TRIM11_ENST00000493030.2_Missense_Mutation_p.G152V|RP11-245P10.8_ENST00000602963.1_RNA	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G277V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCTACCAGTCCCGGGACCCT	0.637																																							uc001hss.2		NA																	2	Substitution - Missense(2)	p.G277*(1)	lung(2)	lung(3)|ovary(1)	4						c.(829-831)GGA>GTA		tripartite motif-containing 11							85.0	83.0	84.0					1																	228584677		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228584677C>A	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.830G>T	1.37:g.228584677C>A	ENSP00000284551:p.Gly277Val					TRIM11_uc010pvx.1_Missense_Mutation_p.G276V|TRIM11_uc001hst.1_Missense_Mutation_p.G277V	p.G277V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			5	1085	-		Prostate(94;0.0724)	277			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.830G>T	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024339	0.54683	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.18016	2.24;2.24	4.97	4.06	0.47325	B30.2/SPRY domain (1);	0.000000	0.41001	D	0.000970	T	0.29817	0.0745	L	0.42581	1.335	0.58432	D	0.999992	D;D;P	0.89917	0.998;1.0;0.609	D;D;B	0.81914	0.977;0.995;0.254	T	0.01390	-1.1367	10	0.42905	T	0.14	.	9.524	0.39154	0.0:0.901:0.0:0.099	.	276;277;277	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	V	277	ENSP00000284551:G277V;ENSP00000355660:G277V	ENSP00000284551:G277V	G	-	2	0	TRIM11	226651300	0.025000	0.19082	0.878000	0.34440	0.574000	0.36063	1.043000	0.30316	1.241000	0.43820	0.313000	0.20887	GGA		0.637	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		11	82	1	0	6.31663e-08	0.003163	8.96553e-08	11	82				
SIPA1L2	57568	broad.mit.edu	37	1	232574993	232574993	+	Missense_Mutation	SNP	C	C	A	rs376696486		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:232574993C>A	ENST00000366630.1	-	14	4250	c.3892G>T	c.(3892-3894)Gct>Tct	p.A1298S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1298S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A372S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1298					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.A1298S(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCATCAGCCCACTGCTCG	0.662																																							uc001hvg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3892-3894)GCT>TCT		signal-induced proliferation-associated 1 like							35.0	40.0	39.0					1																	232574993		2059	4200	6259	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574993C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3892G>T	1.37:g.232574993C>A	ENSP00000355589:p.Ala1298Ser					SIPA1L2_uc001hvf.2_Missense_Mutation_p.A372S	p.A1298S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			13	4050	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1298					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3892G>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795521	0.16327	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.78707	-1.2;-1.2;2.76	5.28	3.42	0.39159	.	0.606764	0.17881	N	0.158841	T	0.66607	0.2806	L	0.40543	1.245	0.29614	N	0.846708	B;B	0.22683	0.009;0.073	B;B	0.24394	0.002;0.053	T	0.55792	-0.8085	10	0.16896	T	0.51	-9.2431	9.8403	0.40996	0.0:0.7616:0.0:0.2384	.	1298;372	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	S	1298;1298;372	ENSP00000355589:A1298S;ENSP00000262861:A1298S;ENSP00000309102:A372S	ENSP00000262861:A1298S	A	-	1	0	SIPA1L2	230641616	0.995000	0.38212	0.952000	0.39060	0.931000	0.56810	1.286000	0.33273	0.809000	0.34255	0.650000	0.86243	GCT		0.662	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		16	47	1	0	1.56452e-12	0.007413	2.68204e-12	16	47				
RYR2	6262	broad.mit.edu	37	1	237819276	237819276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:237819276T>A	ENST00000366574.2	+	53	8438	c.8121T>A	c.(8119-8121)gaT>gaA	p.D2707E	RYR2_ENST00000360064.6_Missense_Mutation_p.D2705E|RYR2_ENST00000542537.1_Missense_Mutation_p.D2691E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2707	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D2705E(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACCTGTTGATACCTCAAAGT	0.358																																							uc001hyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8119-8121)GAT>GAA		cardiac muscle ryanodine receptor							74.0	72.0	72.0					1																	237819276		1848	4103	5951	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237819276T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8121T>A	1.37:g.237819276T>A	ENSP00000355533:p.Asp2707Glu						p.D2707E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8241	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2707			Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8121T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570422	0.28003	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94184	-3.37;-3.37;-3.37	5.95	2.4	0.29515	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.86083	0.5848	L	0.37750	1.13	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75258	-0.3381	10	0.27785	T	0.31	-21.5969	4.1516	0.10240	0.2567:0.1364:0.0:0.6069	.	2707	Q92736	RYR2_HUMAN	E	2707;2705;2691	ENSP00000355533:D2707E;ENSP00000353174:D2705E;ENSP00000443798:D2691E	ENSP00000353174:D2705E	D	+	3	2	RYR2	235885899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.279000	0.33191	0.490000	0.27771	0.460000	0.39030	GAT		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	41	0	0	0	0.003163	0	15	41				
FMN2	56776	broad.mit.edu	37	1	240370817	240370817	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:240370817T>G	ENST00000319653.9	+	5	2935	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	902	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1045R(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCTCTGCAGGGTACA	0.662																																							uc010pyd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2704-2706)CTG>CGG		formin 2							56.0	58.0	58.0					1																	240370817		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370817T>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2705T>G	1.37:g.240370817T>G	ENSP00000318884:p.Leu902Arg					FMN2_uc010pye.1_Missense_Mutation_p.L906R	p.L902R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2930	+	Ovarian(103;0.127)	all_cancers(173;0.013)	902			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2705T>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	0.673	-0.801360	0.02841	.	.	ENSG00000155816	ENST00000319653	T	0.26518	1.73	4.05	-1.4	0.08968	Actin-binding FH2/DRF autoregulatory (1);	1.135160	0.06867	N	0.800214	T	0.19087	0.0458	L	0.43152	1.355	0.19945	N	0.999943	B	0.15473	0.013	B	0.15052	0.012	T	0.32188	-0.9916	9	.	.	.	.	5.1494	0.15002	0.0:0.3158:0.2857:0.3985	.	902	Q9NZ56	FMN2_HUMAN	R	902	ENSP00000318884:L902R	.	L	+	2	0	FMN2	238437440	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.514000	0.22786	-0.354000	0.08212	-0.636000	0.03981	CTG		0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	103	0	0	0	0.014323	0	13	103				
OR6F1	343169	broad.mit.edu	37	1	247875730	247875730	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:247875730T>A	ENST00000302084.2	-	1	375	c.328A>T	c.(328-330)Aca>Tca	p.T110S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACTCTGTGCAGCCTAAT	0.498																																							uc001idj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(328-330)ACA>TCA		olfactory receptor, family 6, subfamily F,							96.0	93.0	94.0					1																	247875730		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875730T>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.328A>T	1.37:g.247875730T>A	ENSP00000305640:p.Thr110Ser						p.T110S	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	328	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		110			Helical; Name=3; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.328A>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398130	0.25205	.	.	ENSG00000169214	ENST00000302084	T	0.78003	-1.14	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000392	T	0.80518	0.4638	L	0.45352	1.415	0.09310	N	0.999999	D	0.69078	0.997	D	0.75020	0.985	T	0.68988	-0.5264	10	0.44086	T	0.13	-30.3823	7.7429	0.28851	0.0:0.1025:0.0:0.8975	.	110	Q8NGZ6	OR6F1_HUMAN	S	110	ENSP00000305640:T110S	ENSP00000305640:T110S	T	-	1	0	OR6F1	245942353	0.000000	0.05858	1.000000	0.80357	0.271000	0.26615	-1.789000	0.01761	1.793000	0.52555	0.482000	0.46254	ACA		0.498	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		26	77	0	0	0	0.021523	0	26	77				
OR2T6	254879	broad.mit.edu	37	1	248551067	248551067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551067C>A	ENST00000355728.2	+	1	158	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P53H(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATAGACCCTCATCTCCAC	0.458																																							uc001iei.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(157-159)CCT>CAT		olfactory receptor, family 2, subfamily T,							238.0	189.0	206.0					1																	248551067		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551067C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.158C>A	1.37:g.248551067C>A	ENSP00000347965:p.Pro53His						p.P53H	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	158	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		53			Cytoplasmic (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.158C>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766902	0.15983	.	.	ENSG00000198104	ENST00000355728	T	0.00344	8.02	4.38	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.686127	0.12818	N	0.436650	T	0.00300	0.0009	L	0.44542	1.39	0.09310	N	1	P	0.44521	0.837	P	0.48840	0.592	T	0.51434	-0.8706	10	0.38643	T	0.18	.	6.3834	0.21548	0.1473:0.6865:0.0:0.1662	.	53	Q8NHC8	OR2T6_HUMAN	H	53	ENSP00000347965:P53H	ENSP00000347965:P53H	P	+	2	0	OR2T6	246617690	0.000000	0.05858	0.004000	0.12327	0.130000	0.20726	-0.684000	0.05173	0.591000	0.29711	0.643000	0.83706	CCT		0.458	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		39	93	1	0	6.04917e-29	0.006999	1.23797e-28	39	93				
OR2T6	254879	broad.mit.edu	37	1	248551409	248551409	+	Missense_Mutation	SNP	C	C	A	rs369678274		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248551409C>A	ENST00000355728.2	+	1	500	c.500C>A	c.(499-501)cCg>cAg	p.P167Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167Q(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCTCCCGTTCTGTGCC	0.537																																							uc001iei.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(499-501)CCG>CAG		olfactory receptor, family 2, subfamily T,							109.0	100.0	103.0					1																	248551409		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551409C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.500C>A	1.37:g.248551409C>A	ENSP00000347965:p.Pro167Gln						p.P167Q	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	500	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		167			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.500C>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638046	0.47153	.	.	ENSG00000198104	ENST00000355728	T	0.00202	8.56	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000409	T	0.00580	0.0019	M	0.84219	2.685	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42949	-0.9421	10	0.66056	D	0.02	.	12.2243	0.54451	0.1704:0.8296:0.0:0.0	.	167	Q8NHC8	OR2T6_HUMAN	Q	167	ENSP00000347965:P167Q	ENSP00000347965:P167Q	P	+	2	0	OR2T6	246618032	0.000000	0.05858	0.979000	0.43373	0.936000	0.57629	0.037000	0.13840	2.423000	0.82170	0.643000	0.83706	CCG		0.537	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		12	46	1	0	1.08611e-07	0.010729	1.478e-07	12	46				
OR2T2	401992	broad.mit.edu	37	1	248616371	248616371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:248616371G>T	ENST00000342927.3	+	1	295	c.273G>T	c.(271-273)aaG>aaT	p.K91N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K91N(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAAGGACAAGACCATTTCCT	0.522																																							uc001iek.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(271-273)AAG>AAT		olfactory receptor, family 2, subfamily T,							209.0	242.0	231.0					1																	248616371		2203	4300	6503	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616371G>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.273G>T	1.37:g.248616371G>T	ENSP00000343062:p.Lys91Asn						p.K91N	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	273	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		91			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.273G>T	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	3.500	-0.102036	0.06967	.	.	ENSG00000196240	ENST00000342927	T	0.38240	1.15	3.34	-1.37	0.09056	GPCR, rhodopsin-like superfamily (1);	0.127283	0.35525	N	0.003158	T	0.28797	0.0714	L	0.31207	0.915	0.09310	N	1	D	0.61080	0.989	P	0.55749	0.783	T	0.14868	-1.0457	10	0.51188	T	0.08	.	1.0674	0.01614	0.4104:0.1527:0.2816:0.1553	.	91	Q6IF00	OR2T2_HUMAN	N	91	ENSP00000343062:K91N	ENSP00000343062:K91N	K	+	3	2	OR2T2	246682994	0.000000	0.05858	0.012000	0.15200	0.884000	0.51177	-1.615000	0.02055	-0.131000	0.11578	0.298000	0.19748	AAG		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		47	300	1	0	9.59449e-18	0.01441	1.80925e-17	47	300				
PRPF18	8559	broad.mit.edu	37	10	13655795	13655795	+	Missense_Mutation	SNP	C	C	T	rs531649538		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:13655795C>T	ENST00000378572.3	+	7	794	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	212					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)	p.R212C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTATGTGAAACGCAGTGTGCA	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0						uc001imp.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(634-636)CGC>TGC		PRP18 pre-mRNA processing factor 18 homolog							110.0	107.0	108.0					10																	13655795		2203	4300	6503	SO:0001583	missense	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13655795C>T	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.634C>T	10.37:g.13655795C>T	ENSP00000367835:p.Arg212Cys					PRPF18_uc001imq.2_Intron	p.R212C	NM_003675	NP_003666	Q99633	PRP18_HUMAN			7	782	+			212					Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	c.634C>T	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001238	0.54254	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000378544	.	.	.	5.7	4.8	0.61643	Prp18 (3);	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	M	0.85859	2.78	0.80722	D	1	B	0.23990	0.095	B	0.30782	0.12	T	0.73817	-0.3863	9	0.66056	D	0.02	-8.2559	14.6822	0.69026	0.0:0.9303:0.0:0.0697	.	212	Q99633	PRP18_HUMAN	C	212;206;206	.	ENSP00000367805:R206C	R	+	1	0	PRPF18	13695801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.513000	0.45494	1.414000	0.47017	0.650000	0.86243	CGC		0.453	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			16	84	0	0	0	0.004007	0	16	84				
LRRC37A6P	387646	broad.mit.edu	37	10	27538888	27538888	+	lincRNA	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr10:27538888G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAGCAGTCTGTGGATGCTCA	0.498																																							uc001its.2		NA																	0					0						c.(505-507)CAG>TAG		SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555;							35.0	28.0	30.0					10																	27538888		692	1591	2283			387646							g.chr10:27538888G>A																													10.37:g.27538888G>A							p.Q169*	NR_003525						1	2348	-									Nonsense_Mutation	SNP	ENST00000574842.1	37	c.505C>T																																																																																					0.498	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			22	143	0	0	0	0.016522	0	22	143				
OR52N2	390077	broad.mit.edu	37	11	5841641	5841641	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:5841641C>A	ENST00000317037.2	+	1	98	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H26N(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCCACACACATCTGGAT	0.547																																							uc010qzp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(76-78)CAC>AAC		olfactory receptor, family 52, subfamily N,							108.0	95.0	100.0					11																	5841641		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841641C>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.76C>A	11.37:g.5841641C>A	ENSP00000322801:p.His26Asn					TRIM5_uc001mbq.1_Intron	p.H26N	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	76	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	26			Extracellular (Potential).		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.76C>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747545	0.30955	.	.	ENSG00000180988	ENST00000317037	T	0.00325	8.1	5.91	4.06	0.47325	.	0.191905	0.36854	N	0.002376	T	0.00241	0.0007	L	0.52011	1.625	0.22240	N	0.999265	B	0.15141	0.012	B	0.21151	0.033	T	0.40384	-0.9566	10	0.87932	D	0	.	11.6288	0.51162	0.0:0.8562:0.0:0.1438	.	26	Q8NGI0	O52N2_HUMAN	N	26	ENSP00000322801:H26N	ENSP00000322801:H26N	H	+	1	0	OR52N2	5798217	0.000000	0.05858	0.678000	0.29963	0.726000	0.41606	0.499000	0.22546	0.860000	0.35481	-0.123000	0.14984	CAC		0.547	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		8	85	1	0	1.61879e-10	0.013537	2.59007e-10	8	85				
OR10A3	26496	broad.mit.edu	37	11	7960520	7960520	+	Missense_Mutation	SNP	G	G	T	rs200724726		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:7960520G>T	ENST00000360759.3	-	1	621	c.548C>A	c.(547-549)cCg>cAg	p.P183Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	183					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)	p.P183Q(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGTACCGGGGGAGTCTC	0.433																																							uc010rbi.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(547-549)CCG>CAG		olfactory receptor, family 10, subfamily A,							81.0	78.0	79.0					11																	7960520		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960520G>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.548C>A	11.37:g.7960520G>T	ENSP00000353988:p.Pro183Gln						p.P183Q	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	548	-			183			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.548C>A	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388769	0.25118	.	.	ENSG00000170683	ENST00000360759	T	0.00137	8.68	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.374582	0.18897	U	0.128139	T	0.00384	0.0012	M	0.62088	1.915	0.09310	N	1	P	0.46987	0.888	P	0.58172	0.834	T	0.58983	-0.7539	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	183	P58181	O10A3_HUMAN	Q	183	ENSP00000353988:P183Q	ENSP00000353988:P183Q	P	-	2	0	OR10A3	7917096	0.993000	0.37304	0.026000	0.17262	0.001000	0.01503	6.122000	0.71608	2.742000	0.94016	0.650000	0.86243	CCG		0.433	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		4	106	1	0	0.00909568	0.009096	0.00960504	4	106				
IPO7	10527	broad.mit.edu	37	11	9463643	9463643	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:9463643A>G	ENST00000379719.3	+	24	3060	c.2918A>G	c.(2917-2919)aAt>aGt	p.N973S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	973					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.N973S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAAATCGTAATCCTGTGTGG	0.403																																							uc001mho.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(2917-2919)AAT>AGT		importin 7							77.0	76.0	77.0					11																	9463643		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9463643A>G	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2918A>G	11.37:g.9463643A>G	ENSP00000369042:p.Asn973Ser						p.N973S	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	24	3060	+			973					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2918A>G	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674730	0.67928	.	.	ENSG00000205339	ENST00000379719	T	0.67345	-0.26	5.87	5.87	0.94306	Armadillo-type fold (1);	0.046641	0.85682	D	0.000000	T	0.56093	0.1962	N	0.24115	0.695	0.48901	D	0.999722	B	0.12013	0.005	B	0.19946	0.027	T	0.52117	-0.8618	10	0.48119	T	0.1	.	16.2377	0.82389	1.0:0.0:0.0:0.0	.	973	O95373	IPO7_HUMAN	S	973	ENSP00000369042:N973S	ENSP00000369042:N973S	N	+	2	0	IPO7	9420219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.480000	0.90434	2.371000	0.80710	0.533000	0.62120	AAT		0.403	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		16	96	0	0	0	0.007413	0	16	96				
SOX6	55553	broad.mit.edu	37	11	15994629	15994629	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:15994629C>A	ENST00000352083.6	-	16	2290	c.2213G>T	c.(2212-2214)gGa>gTa	p.G738V	SOX6_ENST00000528252.1_Missense_Mutation_p.G711V|SOX6_ENST00000527619.1_Missense_Mutation_p.G714V|SOX6_ENST00000396356.3_Missense_Mutation_p.G718V|SOX6_ENST00000528429.1_Missense_Mutation_p.G738V|SOX6_ENST00000316399.6_Missense_Mutation_p.G718V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	738					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G718V(2)|p.G714V(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACACCTGTTCCTGTGGTGAT	0.468																																							uc001mme.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(2251-2253)GGA>GTA		SRY (sex determining region Y)-box 6 isoform 4							86.0	86.0	86.0					11																	15994629		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:15994629C>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2213G>T	11.37:g.15994629C>A	ENSP00000339876:p.Gly738Val					SOX6_uc001mmd.2_Missense_Mutation_p.G714V|SOX6_uc001mmf.2_Missense_Mutation_p.G711V|SOX6_uc001mmg.2_Missense_Mutation_p.G718V	p.G751V	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			16	2285	-			738					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2252G>T		.	.	.	.	.	.	.	.	.	.	C	12.05	1.820971	0.32237	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.85	5.85	0.93711	.	0.140827	0.64402	D	0.000003	T	0.36663	0.0975	N	0.08118	0	0.80722	D	1	P;B;D	0.59357	0.731;0.005;0.985	B;B;P	0.56563	0.376;0.004;0.801	T	0.14615	-1.0466	10	0.15499	T	0.54	.	15.623	0.76824	0.0:0.8633:0.1367:0.0	.	718;738;714	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	V	718;738;718;711;714;738	ENSP00000324948:G718V;ENSP00000339876:G738V;ENSP00000379644:G718V;ENSP00000432134:G711V;ENSP00000434455:G714V;ENSP00000433233:G738V	ENSP00000324948:G718V	G	-	2	0	SOX6	15951205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.936000	0.56568	2.773000	0.95371	0.655000	0.94253	GGA		0.468	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		8	71	1	0	5.4927e-09	0.004482	8.10097e-09	8	71				
LDLRAD3	143458	broad.mit.edu	37	11	36250716	36250716	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:36250716G>T	ENST00000315571.5	+	6	828	c.807G>T	c.(805-807)gcG>gcT	p.A269A	LDLRAD3_ENST00000528989.1_Silent_p.A220A|LDLRAD3_ENST00000524419.1_Silent_p.A259A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	269					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.A269A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACAGGCCTGCGTGGTATGACC	0.592																																							uc001mwk.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(805-807)GCG>GCT		low density lipoprotein receptor class A domain							113.0	117.0	116.0					11																	36250716		2202	4298	6500	SO:0001819	synonymous_variant	143458					integral to membrane	receptor activity	g.chr11:36250716G>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.807G>T	11.37:g.36250716G>T						LDLRAD3_uc010rey.1_Silent_p.A220A|LDLRAD3_uc010rez.1_Silent_p.A148A|LDLRAD3_uc010rfa.1_RNA	p.A269A	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			6	844	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	269			Cytoplasmic (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	ENST00000315571.5	37	c.807G>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163831	0.01673	.	.	ENSG00000179241	ENST00000545142	.	.	.	5.22	-10.4	0.00318	.	.	.	.	.	T	0.47078	0.1426	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.69781	-0.5052	5	0.34782	T	0.22	.	6.2572	0.20879	0.1814:0.3318:0.3869:0.0999	.	.	.	.	L	140	.	ENSP00000438737:R140L	R	+	2	0	LDLRAD3	36207292	0.000000	0.05858	0.003000	0.11579	0.095000	0.18619	-3.628000	0.00410	-5.570000	0.00012	-1.008000	0.02478	CGT		0.592	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		30	204	1	0	2.61193e-14	0.009535	4.62785e-14	30	204				
LRRC4C	57689	broad.mit.edu	37	11	40136265	40136265	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:40136265G>T	ENST00000278198.2	-	2	3541	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	LRRC4C_ENST00000528697.1_Silent_p.T526T|LRRC4C_ENST00000530763.1_Silent_p.T526T|LRRC4C_ENST00000527150.1_Silent_p.T526T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	526					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.T526T(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGATGATTTTGGTAGTCTTCA	0.468																																							uc001mxa.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1576-1578)ACC>ACA		netrin-G1 ligand precursor							167.0	141.0	149.0					11																	40136265		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136265G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1578C>A	11.37:g.40136265G>T						LRRC4C_uc001mxc.1_Silent_p.T522T|LRRC4C_uc001mxd.1_Silent_p.T522T|LRRC4C_uc001mxb.1_Silent_p.T522T	p.T526T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3542	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	526					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1578C>A	CCDS31464.1																																																																																				0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	87	1	0	4.3838e-07	0.016723	5.75783e-07	12	87				
OR4A47	403253	broad.mit.edu	37	11	48510590	48510590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:48510590C>A	ENST00000446524.1	+	1	322	c.246C>A	c.(244-246)ggC>ggA	p.G82G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	82			G -> D (in dbSNP:rs12805819).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G82G(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGATTTCAGGCTTGTTCTTTG	0.428																																							uc010rhx.1		NA																	2	Substitution - coding silent(2)	p.G82S(1)	lung(2)	ovary(1)|skin(1)	2						c.(244-246)GGC>GGA		olfactory receptor, family 4, subfamily A,							100.0	99.0	100.0					11																	48510590		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510590C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.246C>A	11.37:g.48510590C>A							p.G82G	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	246	+			82			Extracellular (Potential).			Silent	SNP	ENST00000446524.1	37	c.246C>A	CCDS31490.1																																																																																				0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		27	178	1	0	7.26314e-15	0.007291	1.3044e-14	27	178				
OR4P4	81300	broad.mit.edu	37	11	55406314	55406314	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:55406314A>G	ENST00000314612.2	+	1	481	c.481A>G	c.(481-483)Acc>Gcc	p.T161A		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T161A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTTTCTTCTCACCATCTTTGT	0.393																																							uc010rij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(481-483)ACC>GCC		olfactory receptor, family 4, subfamily P,							85.0	73.0	77.0					11																	55406314		2182	4006	6188	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406314A>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.481A>G	11.37:g.55406314A>G	ENSP00000324831:p.Thr161Ala						p.T161A	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	481	+			161			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.481A>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	1.931	-0.445847	0.04604	.	.	ENSG00000181927	ENST00000314612	T	0.00241	8.46	5.37	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.360307	0.20332	N	0.094420	T	0.00109	0.0003	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.20577	0.03	T	0.02333	-1.1175	10	0.15066	T	0.55	-18.1131	9.2794	0.37720	0.8462:0.0:0.1538:0.0	.	161	Q8NGL7	OR4P4_HUMAN	A	161	ENSP00000324831:T161A	ENSP00000324831:T161A	T	+	1	0	OR4P4	55162890	0.000000	0.05858	0.039000	0.18376	0.004000	0.04260	0.252000	0.18278	0.860000	0.35481	0.519000	0.50382	ACC		0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		20	176	0	0	0	0.008871	0	20	176				
OR5F1	338674	broad.mit.edu	37	11	55761412	55761412	+	Silent	SNP	C	C	G	rs144082157	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:55761412C>G	ENST00000278409.1	-	1	689	c.690G>C	c.(688-690)tcG>tcC	p.S230S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					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)	p.S230S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCCCTCCCCCGAATGCATAG	0.478																																							uc010riv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(688-690)TCG>TCC		olfactory receptor, family 5, subfamily F,							59.0	57.0	58.0					11																	55761412		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761412C>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.690G>C	11.37:g.55761412C>G							p.S230S	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	690	-	Esophageal squamous(21;0.00448)		230			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.690G>C	CCDS31515.1																																																																																				0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		8	41	0	0	0	0.00308	0	8	41				
OR5AP2	338675	broad.mit.edu	37	11	56409316	56409316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:56409316G>T	ENST00000302981.1	-	1	599	c.600C>A	c.(598-600)ttC>ttA	p.F200L	OR5AP2_ENST00000544374.1_Missense_Mutation_p.F201L	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F200L(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CAATGCCATTGAAGTGGGTAT	0.423																																							uc001njb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(598-600)TTC>TTA		olfactory receptor, family 5, subfamily AP,							223.0	218.0	220.0					11																	56409316		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409316G>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.600C>A	11.37:g.56409316G>T	ENSP00000303111:p.Phe200Leu						p.F200L	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	600	-			200			Extracellular (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.600C>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	7.279	0.608746	0.14066	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00021	9.02;9.02	5.09	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.290799	0.24583	N	0.037298	T	0.00039	0.0001	N	0.00514	-1.41	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.08289	-1.0729	10	0.37606	T	0.19	.	4.9203	0.13867	0.0807:0.1484:0.6173:0.1536	.	200	Q8NGF4	O5AP2_HUMAN	L	201;200	ENSP00000442701:F201L;ENSP00000303111:F200L	ENSP00000303111:F200L	F	-	3	2	OR5AP2	56165892	0.002000	0.14202	0.966000	0.40874	0.268000	0.26511	-0.112000	0.10791	0.708000	0.31955	-0.202000	0.12741	TTC		0.423	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		30	192	1	0	4.62619e-21	0.019004	8.98025e-21	30	192				
OR10W1	81341	broad.mit.edu	37	11	58035114	58035114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:58035114G>T	ENST00000395079.2	-	1	618	c.217C>A	c.(217-219)Ctg>Atg	p.L73M		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L73M(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTGTTGGCCAGGATATGGGGC	0.507																																							uc001nmq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(217-219)CTG>ATG		olfactory receptor, family 10, subfamily W,							95.0	85.0	88.0					11																	58035114		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58035114G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.217C>A	11.37:g.58035114G>T	ENSP00000378516:p.Leu73Met						p.L73M	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	619	-		Breast(21;0.0589)	73			Extracellular (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.217C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049147	0.55110	.	.	ENSG00000172772	ENST00000395079	T	0.00377	7.69	5.76	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.186551	0.25823	N	0.028062	T	0.00356	0.0011	M	0.83223	2.63	0.21184	N	0.999761	P	0.39748	0.686	B	0.31614	0.133	T	0.47071	-0.9145	10	0.49607	T	0.09	.	6.7895	0.23692	0.1372:0.0:0.6121:0.2507	.	73	Q8NGF6	O10W1_HUMAN	M	73	ENSP00000378516:L73M	ENSP00000378516:L73M	L	-	1	2	OR10W1	57791690	0.412000	0.25392	0.322000	0.25334	0.972000	0.66771	0.489000	0.22387	0.330000	0.23485	0.655000	0.94253	CTG		0.507	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		15	78	1	0	1.15088e-07	0.004007	1.55016e-07	15	78				
AHNAK	79026	broad.mit.edu	37	11	62287633	62287633	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:62287633G>A	ENST00000378024.4	-	5	14530	c.14256C>T	c.(14254-14256)ggC>ggT	p.G4752G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4752					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G4752G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCTGGGCCCTTGAGGT	0.507																																							uc001ntl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14254-14256)GGC>GGT		AHNAK nucleoprotein isoform 1							168.0	160.0	163.0					11																	62287633		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287633G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14256C>T	11.37:g.62287633G>A						AHNAK_uc001ntk.1_Intron	p.G4752G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14556	-		Melanoma(852;0.155)	4752					A1A586	Silent	SNP	ENST00000378024.4	37	c.14256C>T	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		23	206	0	0	0	0.014323	0	23	206				
C11orf68	83638	broad.mit.edu	37	11	65685409	65685409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:65685409C>A	ENST00000530188.1	-	1	422	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L	DRAP1_ENST00000376991.2_5'Flank|DRAP1_ENST00000527119.1_5'Flank|C11orf68_ENST00000438576.2_Missense_Mutation_p.V135L|C11orf68_ENST00000449692.3_Missense_Mutation_p.V134L|DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000312515.2_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	93							poly(A) RNA binding (GO:0044822)	p.V135L(2)|p.V93L(2)		large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		AGGCCCTGCACGTCCCCGGAG	0.657																																							uc001ogi.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(403-405)GTG>TTG		basophilic leukemia expressed protein BLES03							49.0	46.0	47.0					11																	65685409		2201	4296	6497	SO:0001583	missense	83638							g.chr11:65685409C>A	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.277G>T	11.37:g.65685409C>A	ENSP00000433914:p.Val93Leu					C11orf68_uc009yqv.2_Missense_Mutation_p.V134L|DRAP1_uc001ogj.1_5'Flank	p.V135L	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	432	-			93					J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37	c.403G>T		.	.	.	.	.	.	.	.	.	.	C	19.37	3.813806	0.70912	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.43294	0.95;0.95;0.95	4.58	4.58	0.56647	Translation Initiation factor eIF- 4e-like  domain (2);	0.068516	0.56097	D	0.000025	T	0.37517	0.1006	L	0.39397	1.21	0.47905	D	0.999542	B;B	0.25772	0.11;0.134	B;B	0.28305	0.053;0.088	T	0.25984	-1.0116	10	0.46703	T	0.11	-16.1905	15.266	0.73663	0.0:1.0:0.0:0.0	.	134;93	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	L	135;134;93	ENSP00000398350:V135L;ENSP00000409681:V134L;ENSP00000433914:V93L	ENSP00000398350:V135L	V	-	1	0	C11orf68	65441985	0.997000	0.39634	0.920000	0.36463	0.691000	0.40173	4.779000	0.62375	2.264000	0.75181	0.462000	0.41574	GTG		0.657	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		5	51	1	0	0.000442599	0.006214	0.000503648	5	51				
PAFAH1B2	5049	broad.mit.edu	37	11	117038323	117038323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:117038323G>T	ENST00000527958.1	+	6	757	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000529887.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	200					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)	p.G200W(2)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TCTGACAGGAGGGGGCTATGC	0.532			T	IGH@	MLCLS																																		uc001pqe.1		NA		Dom	yes		11	11q23	5049	T	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""			L	IGH@		MLCLS		2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(598-600)GGG>TGG		platelet-activating factor acetylhydrolase,							83.0	69.0	74.0					11																	117038323		2201	4296	6497	SO:0001583	missense	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117038323G>T	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.598G>T	11.37:g.117038323G>T	ENSP00000435289:p.Gly200Trp					PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank	p.G200W	NM_002572	NP_002563	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	6	700	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	200					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	37	c.598G>T	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008950	0.54361	.	.	ENSG00000168092	ENST00000527958;ENST00000304808	T;T	0.46063	0.92;0.88	5.6	5.6	0.85130	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.316288	0.37906	N	0.001887	T	0.49287	0.1548	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	P	0.60415	0.874	T	0.53578	-0.8419	10	0.72032	D	0.01	-10.8625	19.6129	0.95616	0.0:0.0:1.0:0.0	.	200	P68402	PA1B2_HUMAN	W	200;146	ENSP00000435289:G200W;ENSP00000304006:G146W	ENSP00000304006:G146W	G	+	1	0	PAFAH1B2	116543533	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	2.071000	0.41500	2.645000	0.89757	0.467000	0.42956	GGG		0.532	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		7	67	1	0	0.00010058	0.013537	0.000118014	7	67				
SCN3B	55800	broad.mit.edu	37	11	123508905	123508905	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr11:123508905G>T	ENST00000392770.2	-	4	1375	c.573C>A	c.(571-573)gcC>gcA	p.A191A	SCN3B_ENST00000299333.3_Silent_p.A191A|SCN3B_ENST00000530277.1_Silent_p.A191A	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	191					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A191A(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTTTTCTTGGGCTGCCTCTT	0.448																																							uc001pza.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(571-573)GCC>GCA		voltage-gated sodium channel beta-3 subunit							139.0	114.0	123.0					11																	123508905		2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123508905G>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.573C>A	11.37:g.123508905G>T						SCN3B_uc001pzb.1_Silent_p.A191A	p.A191A	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	5	980	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191			Cytoplasmic (Potential).		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.573C>A	CCDS8442.1																																																																																				0.448	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		10	41	1	0	2.17888e-05	0.006214	2.63864e-05	10	41				
DDX11	1663	broad.mit.edu	37	12	31249876	31249876	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:31249876G>T	ENST00000407793.2	+	17	1965	c.1714G>T	c.(1714-1716)Gct>Tct	p.A572S	DDX11_ENST00000542838.1_Missense_Mutation_p.A572S|DDX11_ENST00000545668.1_Missense_Mutation_p.A572S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A546S|DDX11_ENST00000350437.4_Missense_Mutation_p.A572S|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	572					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A572S(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGGCAGCTCTCACTAC	0.602										Multiple Myeloma(12;0.14)																													uc001rjt.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(3)	3						c.(1714-1716)GCT>TCT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							36.0	39.0	38.0					12																	31249876		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31249876G>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1714G>T	12.37:g.31249876G>T	ENSP00000384703:p.Ala572Ser	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Missense_Mutation_p.A572S|DDX11_uc001rjs.1_Missense_Mutation_p.A572S|DDX11_uc001rju.1_Missense_Mutation_p.A250S|DDX11_uc001rjv.1_Missense_Mutation_p.A572S|DDX11_uc001rjw.1_Missense_Mutation_p.A546S|DDX11_uc009zjn.1_RNA	p.A572S	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			17	1965	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		572					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.1714G>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307778	0.60305	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	3.56	3.56	0.40772	.	0.054883	0.64402	D	0.000001	T	0.49949	0.1587	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	T	0.39542	-0.9609	10	0.24483	T	0.36	.	12.707	0.57065	0.0:0.0:1.0:0.0	.	546;572;572;572	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	S	572;572;297;546;572;572	ENSP00000443426:A572S;ENSP00000384703:A572S;ENSP00000228264:A546S;ENSP00000440402:A572S;ENSP00000309965:A572S	ENSP00000228264:A546S	A	+	1	0	DDX11	31141143	1.000000	0.71417	0.201000	0.23476	0.683000	0.39861	6.475000	0.73582	1.813000	0.52934	0.505000	0.49811	GCT		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	30	1	0	0.00909568	0.009096	0.00960504	4	30				
IRAK4	51135	broad.mit.edu	37	12	44180315	44180315	+	Silent	SNP	T	T	C	rs551524673		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:44180315T>C	ENST00000448290.2	+	11	1373	c.1302T>C	c.(1300-1302)agT>agC	p.S434S	IRAK4_ENST00000551736.1_Silent_p.S434S|IRAK4_ENST00000440781.2_Silent_p.S310S|IRAK4_ENST00000431837.1_Silent_p.S310S	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S434S(2)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGTTGCTAGTCAATGTCTGC	0.308													T|||	1	0.000199681	0.0	0.0	5008	,	,		13077	0.0		0.001	False		,,,				2504	0.0						uc001rnu.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1300-1302)AGT>AGC		interleukin-1 receptor-associated kinase 4							71.0	83.0	79.0					12																	44180315		2203	4295	6498	SO:0001819	synonymous_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180315T>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1302T>C	12.37:g.44180315T>C						IRAK4_uc001rnt.3_Silent_p.S434S|IRAK4_uc001rnx.3_Silent_p.S310S|IRAK4_uc001rny.3_Silent_p.S310S|IRAK4_uc010sky.1_Silent_p.S310S|IRAK4_uc001rnv.3_Silent_p.S310S|IRAK4_uc001rnw.3_Silent_p.S310S	p.S434S	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	12	1432	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	434			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.1302T>C	CCDS8744.1																																																																																				0.308	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			18	176	0	0	0	0.010504	0	18	176				
PCBP2	5094	broad.mit.edu	37	12	53853102	53853102	+	Missense_Mutation	SNP	C	C	T	rs111807426		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:53853102C>T	ENST00000439930.3	+	5	312	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000603815.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	97	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.P97L(2)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGTAGACCCCCGGTCACCCTG	0.488																																							uc001sdl.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(289-291)CCG>CTG		poly(rC) binding protein 2 isoform d							115.0	113.0	113.0					12																	53853102		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53853102C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.290C>T	12.37:g.53853102C>T	ENSP00000408949:p.Pro97Leu					PCBP2_uc001sdc.3_Missense_Mutation_p.P97L|PCBP2_uc001sdb.3_Missense_Mutation_p.P97L|PCBP2_uc001sde.3_Missense_Mutation_p.P97L|PCBP2_uc001sdi.3_Missense_Mutation_p.P97L|PCBP2_uc001sdd.3_Missense_Mutation_p.P97L|PCBP2_uc001sdf.3_Missense_Mutation_p.P97L|PCBP2_uc009zna.2_Missense_Mutation_p.P58L|PCBP2_uc010soh.1_Missense_Mutation_p.P97L|PCBP2_uc009zmz.1_Missense_Mutation_p.P39L|PCBP2_uc001sdg.1_RNA	p.P97L	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			6	640	+			97			KH 2.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.290C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126840	0.56721	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63913	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;-0.07;1.01;1.01;1.01;1.01;1.01	5.01	4.11	0.48088	K Homology (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.90369	3.11	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.32283	0.362;0.094;0.055;0.065;0.198;0.054;0.065;0.055;0.015	B;B;B;B;B;B;B;B;B	0.30105	0.059;0.111;0.067;0.029;0.095;0.05;0.044;0.067;0.022	T	0.73694	-0.3902	10	0.62326	D	0.03	.	14.3628	0.66785	0.0:0.8503:0.1496:0.0	.	97;58;97;97;97;97;97;97;97	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	L	97;97;97;97;97;97;97;39;97;97;89;97;58;97;97;97;78;59	ENSP00000446130:P97L;ENSP00000352228:P97L;ENSP00000394116:P97L;ENSP00000390304:P97L;ENSP00000408949:P97L;ENSP00000447670:P97L;ENSP00000352438:P97L;ENSP00000448762:P97L;ENSP00000446601:P97L;ENSP00000448847:P89L;ENSP00000448927:P97L;ENSP00000449070:P97L;ENSP00000388008:P97L;ENSP00000449062:P97L	ENSP00000352228:P97L	P	+	2	0	PCBP2	52139369	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.769000	0.68865	1.302000	0.44855	0.655000	0.94253	CCG		0.488	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		13	95	0	0	0	0.010504	0	13	95				
PAN2	9924	broad.mit.edu	37	12	56720127	56720127	+	Silent	SNP	C	C	T	rs200354150		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56720127C>T	ENST00000425394.2	-	8	1705	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	PAN2_ENST00000257931.5_Silent_p.A443A|PAN2_ENST00000440411.3_Silent_p.A443A|PAN2_ENST00000548043.1_Silent_p.A443A	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.A443A(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGGGATTGGGCGCATAGCCAA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18502	0.0		0.0	False		,,,				2504	0.0						uc001skx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1327-1329)GCG>GCA		PAN2 polyA specific ribonuclease subunit homolog		C	,,	1,4405	2.1+/-5.4	0,1,2202	46.0	40.0	42.0		1329,1329,1329	-10.3	0.1	12		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	443/1203,443/1202,443/1199	56720127	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720127C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1329G>A	12.37:g.56720127C>T						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.A443A|PAN2_uc001sky.2_Silent_p.A443A	p.A443A	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			8	1702	-			443						Silent	SNP	ENST00000425394.2	37	c.1329G>A	CCDS44922.1																																																																																				0.542	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	20	0	0	0	0.009096	0	4	20				
RBMS2	5939	broad.mit.edu	37	12	56963712	56963712	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:56963712T>C	ENST00000262031.5	+	4	417	c.322T>C	c.(322-324)Tca>Cca	p.S108P	RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S108P|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000550726.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	108	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S108P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGACAGCCCTTCAGCAGCACA	0.512																																							uc001sln.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(322-324)TCA>CCA		RNA binding motif, single stranded interacting							126.0	106.0	112.0					12																	56963712		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56963712T>C	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.322T>C	12.37:g.56963712T>C	ENSP00000262031:p.Ser108Pro					RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_5'UTR	p.S108P	NM_002898	NP_002889	Q15434	RBMS2_HUMAN			4	521	+			108			RRM 1.			Missense_Mutation	SNP	ENST00000262031.5	37	c.322T>C	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552627	0.65425	.	.	ENSG00000076067	ENST00000262031;ENST00000552247	T;T	0.17054	3.3;2.3	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.133751	0.49305	D	0.000156	T	0.18718	0.0449	L	0.45422	1.42	0.80722	D	1	P	0.42039	0.769	P	0.46885	0.53	T	0.01795	-1.1272	10	0.46703	T	0.11	.	6.2152	0.20651	0.1579:0.0:0.164:0.6781	.	108	Q15434	RBMS2_HUMAN	P	108	ENSP00000262031:S108P;ENSP00000447426:S108P	ENSP00000262031:S108P	S	+	1	0	RBMS2	55249979	0.065000	0.20965	0.998000	0.56505	0.998000	0.95712	0.434000	0.21494	2.022000	0.59522	0.528000	0.53228	TCA		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		18	115	0	0	0	0.006122	0	18	115				
INHBC	3626	broad.mit.edu	37	12	57843212	57843212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:57843212G>T	ENST00000309668.2	+	2	593	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	156					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.G156C(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTGTGCTGGGTCCACATAA	0.552																																							uc001snv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(466-468)GGT>TGT		inhibin beta C chain preproprotein							154.0	138.0	143.0					12																	57843212		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843212G>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.466G>T	12.37:g.57843212G>T	ENSP00000308716:p.Gly156Cys						p.G156C	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	593	+			156					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.466G>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	G	7.679	0.688707	0.14973	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.67523	-0.27;-0.27	4.27	-1.82	0.07857	Transforming growth factor-beta, N-terminal (1);	26.935300	0.00550	N	0.000250	T	0.61375	0.2342	L	0.42245	1.32	0.09310	N	1	P	0.44344	0.833	B	0.43701	0.428	T	0.54159	-0.8335	10	0.56958	D	0.05	-0.0597	6.0199	0.19623	0.582:0.0:0.2894:0.1286	.	156	P55103	INHBC_HUMAN	C	156	ENSP00000449889:G156C;ENSP00000308716:G156C	ENSP00000308716:G156C	G	+	1	0	INHBC	56129479	0.122000	0.22280	0.000000	0.03702	0.021000	0.10359	2.542000	0.45744	-0.320000	0.08640	-0.808000	0.03180	GGT		0.552	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		34	162	1	0	3.21399e-22	0.021022	6.42799e-22	34	162				
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:99640640C>A	ENST00000547776.2	-	13	1758	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167Y|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473																																							uc001tge.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1759-1761)GAC>TAC		cajalin 2 isoform a							110.0	106.0	107.0					12																	99640640		1894	4098	5992	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640640C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1759G>T	12.37:g.99640640C>A	ENSP00000449629:p.Asp587Tyr					ANKS1B_uc001tgf.1_Missense_Mutation_p.D167Y|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D553Y	p.D587Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2176	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	587					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1759G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501908	0.26949	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.60299	0.98;0.2;0.98;0.83	5.76	3.84	0.44239	.	0.422095	0.23391	N	0.048689	T	0.46521	0.1397	N	0.19112	0.55	0.80722	D	1	P;B;P	0.50528	0.936;0.115;0.826	P;B;B	0.53809	0.735;0.244;0.365	T	0.34254	-0.9836	9	.	.	.	-12.9042	3.9237	0.09254	0.1665:0.5867:0.1601:0.0867	.	553;167;587	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Y	587;167;587;166;553	ENSP00000449629:D587Y;ENSP00000448512:D167Y;ENSP00000331381:D587Y;ENSP00000449894:D553Y	.	D	-	1	0	ANKS1B	98164771	0.511000	0.26179	0.997000	0.53966	0.443000	0.32047	0.695000	0.25527	2.882000	0.98803	0.655000	0.94253	GAC		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		35	238	1	0	1.66425e-11	0.021022	2.76328e-11	35	238				
SLC17A8	246213	broad.mit.edu	37	12	100787146	100787146	+	Splice_Site	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787146G>A	ENST00000323346.5	+	4	786		c.e4-1		SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.?(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGTCCCCCAGGGTCTTTGGA	0.473																																							uc010svi.1		NA																	2	Unknown(2)		lung(2)	ovary(3)	3						c.e4-1		solute carrier family 17 (sodium-dependent							182.0	143.0	156.0					12																	100787146		2203	4300	6503	SO:0001630	splice_region_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100787146G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.474-1G>A	12.37:g.100787146G>A						SLC17A8_uc009ztx.2_Splice_Site_p.R158_splice	p.R158_splice	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			4	787	+								B3KXZ6|B7ZKV4|Q17RQ8	Splice_Site	SNP	ENST00000323346.5	37	c.474_splice	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266967	0.80469	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4635	0.94929	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC17A8	99311277	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.444000	0.97578	2.663000	0.90544	0.655000	0.94253	.		0.473	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	Intron	10	70	0	0	0	0.006214	0	10	70				
SLC17A8	246213	broad.mit.edu	37	12	100787197	100787197	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:100787197C>T	ENST00000323346.5	+	4	837	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P175L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	175					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.P175L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGTTTATTCCCTCTGCAGCC	0.463																																							uc010svi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(523-525)CCC>CTC		solute carrier family 17 (sodium-dependent							230.0	188.0	203.0					12																	100787197		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100787197C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.524C>T	12.37:g.100787197C>T	ENSP00000316909:p.Pro175Leu					SLC17A8_uc009ztx.2_Missense_Mutation_p.P175L	p.P175L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			4	837	+			175			Vesicular (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.524C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612181	0.66672	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.58358	0.34;0.34	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89303	0.3627	10	0.87932	D	0	.	19.207	0.93734	0.0:1.0:0.0:0.0	.	175;175	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	L	175	ENSP00000316909:P175L;ENSP00000376715:P175L	ENSP00000316909:P175L	P	+	2	0	SLC17A8	99311328	1.000000	0.71417	0.983000	0.44433	0.068000	0.16541	7.463000	0.80869	2.596000	0.87737	0.655000	0.94253	CCC		0.463	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		7	102	0	0	0	0.008291	0	7	102				
POLR3B	55703	broad.mit.edu	37	12	106821053	106821053	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:106821053A>T	ENST00000228347.4	+	13	1402	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.K336*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	394					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.K394*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGATTCCTAAGCAAAGAGC	0.363																																							uc001tlp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1180-1182)AAG>TAG		DNA-directed RNA polymerase III B isoform 1							102.0	96.0	98.0					12																	106821053		2203	4300	6503	SO:0001587	stop_gained	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106821053A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1180A>T	12.37:g.106821053A>T	ENSP00000228347:p.Lys394*					POLR3B_uc001tlq.2_Nonsense_Mutation_p.K336*	p.K394*	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1402	+			394					A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	ENST00000228347.4	37	c.1180A>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	38	6.651558	0.97734	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7021	16.3473	0.83146	1.0:0.0:0.0:0.0	.	.	.	.	X	394;394;336;152	.	ENSP00000228347:K394X	K	+	1	0	POLR3B	105345183	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.801000	0.91905	2.320000	0.78422	0.528000	0.53228	AAG		0.363	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		9	103	0	0	0	0.004482	0	9	103				
TRPV4	59341	broad.mit.edu	37	12	110224614	110224614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:110224614C>A	ENST00000418703.2	-	13	2331	c.2237G>T	c.(2236-2238)cGc>cTc	p.R746L	TRPV4_ENST00000346520.2_Missense_Mutation_p.R686L|TRPV4_ENST00000537083.1_Missense_Mutation_p.R686L|TRPV4_ENST00000261740.2_Missense_Mutation_p.R746L|TRPV4_ENST00000536838.1_Missense_Mutation_p.R712L|TRPV4_ENST00000392719.2_Missense_Mutation_p.R699L|TRPV4_ENST00000544971.1_Missense_Mutation_p.R639L|TRPV4_ENST00000541794.1_Missense_Mutation_p.R699L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	746					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.R746L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGGAAGGAGCGCTCAATGTC	0.652																																							uc001tpj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2236-2238)CGC>CTC		transient receptor potential cation channel,							89.0	62.0	71.0					12																	110224614		2202	4300	6502	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110224614C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2237G>T	12.37:g.110224614C>A	ENSP00000406191:p.Arg746Leu					TRPV4_uc001tpg.1_Missense_Mutation_p.R712L|TRPV4_uc001tph.1_Missense_Mutation_p.R699L|TRPV4_uc001tpi.1_Missense_Mutation_p.R639L|TRPV4_uc001tpk.1_Missense_Mutation_p.R746L|TRPV4_uc001tpl.1_Missense_Mutation_p.R686L	p.R746L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			13	2332	-			746			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2237G>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547873	0.86022	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	4.77	4.77	0.60923	.	0.051204	0.85682	D	0.000000	D	0.93726	0.7995	M	0.73962	2.25	0.80722	D	1	D;D;D;P;P	0.69078	0.994;0.997;0.997;0.948;0.949	D;P;D;P;P	0.68192	0.956;0.904;0.956;0.835;0.66	D	0.93858	0.7151	10	0.56958	D	0.05	-30.296	16.8762	0.86052	0.0:1.0:0.0:0.0	.	686;746;639;699;712	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	746;746;699;686;639;686;699;712	ENSP00000406191:R746L;ENSP00000261740:R746L;ENSP00000376480:R699L;ENSP00000319003:R686L;ENSP00000443611:R639L;ENSP00000442738:R686L;ENSP00000442167:R699L;ENSP00000444336:R712L	ENSP00000261740:R746L	R	-	2	0	TRPV4	108708997	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.595000	0.54016	2.645000	0.89757	0.655000	0.94253	CGC		0.652	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		5	36	1	0	3.59834e-05	0.001168	4.318e-05	5	36				
TBX5	6910	broad.mit.edu	37	12	114804095	114804095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:114804095T>A	ENST00000310346.4	-	8	1523	c.857A>T	c.(856-858)aAt>aTt	p.N286I	TBX5_ENST00000349716.5_Missense_Mutation_p.N236I|TBX5_ENST00000405440.2_Missense_Mutation_p.N286I|TBX5_ENST00000526441.1_Missense_Mutation_p.N286I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	286					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.N286I(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCCCAAATTGGATGAGGT	0.577																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|pancreas(1)|skin(1)	8						c.(856-858)AAT>ATT		T-box 5 isoform 1							131.0	111.0	118.0					12																	114804095		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804095T>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.857A>T	12.37:g.114804095T>A	ENSP00000309913:p.Asn286Ile					TBX5_uc001tvp.2_Missense_Mutation_p.N286I|TBX5_uc001tvq.2_Missense_Mutation_p.N236I|TBX5_uc010syv.1_Missense_Mutation_p.N286I	p.N286I	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1352	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		286					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.857A>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332945	0.41297	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.62	4.4	0.53042	.	0.219428	0.47455	D	0.000224	T	0.72755	0.3500	L	0.53249	1.67	0.36249	D	0.853782	B;B	0.30406	0.278;0.001	B;B	0.32211	0.142;0.002	T	0.78486	-0.2185	10	0.54805	T	0.06	.	11.3657	0.49671	0.0:0.0:0.2787:0.7212	.	286;286	Q99593-2;Q99593	.;TBX5_HUMAN	I	236;286;183;286;286	ENSP00000337723:N236I;ENSP00000309913:N286I;ENSP00000384152:N286I;ENSP00000433292:N286I	ENSP00000309913:N286I	N	-	2	0	TBX5	113288478	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.084000	0.41625	2.151000	0.67156	0.533000	0.62120	AAT		0.577	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		20	126	0	0	0	0.021523	0	20	126				
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:126137133C>A	ENST00000299308.3	+	8	2054	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral component of membrane (GO:0016021)		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607																																							uc001uhe.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2044-2046)ATC>ATA		transmembrane protein 132B							65.0	66.0	65.0					12																	126137133		2137	4251	6388	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126137133C>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2046C>A	12.37:g.126137133C>A						TMEM132B_uc001uhf.1_Silent_p.I194I	p.I682I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2054	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		682			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2046C>A	CCDS41859.1																																																																																				0.607	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		17	63	1	0	1.2644e-06	0.010504	1.61257e-06	17	63				
SACS	26278	broad.mit.edu	37	13	23915491	23915491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:23915491C>A	ENST00000382292.3	-	9	2797	c.2524G>T	c.(2524-2526)Gac>Tac	p.D842Y	SACS_ENST00000382298.3_Missense_Mutation_p.D842Y|SACS_ENST00000402364.1_Missense_Mutation_p.D92Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	842					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.D695Y(2)|p.D842Y(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATGTCTGCTAAAAAT	0.363																																							uc001uon.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2524-2526)GAC>TAC		sacsin							78.0	82.0	81.0					13																	23915491		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915491C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2524G>T	13.37:g.23915491C>A	ENSP00000371729:p.Asp842Tyr					SACS_uc001uoo.2_Missense_Mutation_p.D695Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.D842Y	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3113	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	842					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2524G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740853	0.89573	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88046	-2.17;-2.33;-2.17	6.05	6.05	0.98169	.	0.096913	0.64402	D	0.000002	D	0.88134	0.6355	M	0.63428	1.95	0.80722	D	1	D	0.53151	0.958	B	0.43867	0.434	D	0.88950	0.3386	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	842	Q9NZJ4	SACS_HUMAN	Y	842;92;842	ENSP00000371729:D842Y;ENSP00000385844:D92Y;ENSP00000371735:D842Y	ENSP00000371729:D842Y	D	-	1	0	SACS	22813491	1.000000	0.71417	0.989000	0.46669	0.749000	0.42624	5.763000	0.68818	2.878000	0.98634	0.650000	0.86243	GAC		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		28	120	1	0	2.79863e-10	0.004656	4.39785e-10	28	120				
FRY	10129	broad.mit.edu	37	13	32759184	32759184	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:32759184G>A	ENST00000380250.3	+	26	3714	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1073						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACTTGACCCGCATGCTCCTA	0.418																																							uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(3217-3219)CGC>CAC		furry homolog							135.0	130.0	132.0					13																	32759184		1856	4090	5946	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759184G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3218G>A	13.37:g.32759184G>A	ENSP00000369600:p.Arg1073His					FRY_uc010tdw.1_RNA	p.R1073H	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3714	+		Lung SC(185;0.0271)	1073					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3218G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337520	0.95758	.	.	ENSG00000073910	ENST00000380250	T	0.26957	1.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.34700	-0.9818	10	0.21540	T	0.41	.	19.4663	0.94943	0.0:0.0:1.0:0.0	.	1073	Q5TBA9	FRY_HUMAN	H	1073	ENSP00000369600:R1073H	ENSP00000369600:R1073H	R	+	2	0	FRY	31657184	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.740000	0.98839	2.675000	0.91044	0.650000	0.86243	CGC		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	310	0	0	0	0.001168	0	6	310				
ZC3H13	23091	broad.mit.edu	37	13	46619113	46619113	+	Silent	SNP	T	T	C	rs374452025		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:46619113T>C	ENST00000242848.4	-	3	552	c.204A>G	c.(202-204)aaA>aaG	p.K68K	ZC3H13_ENST00000282007.3_Silent_p.K68K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	68							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K68K(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGCTATAACCTTTACCACGAG	0.378																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(202-204)AAA>AAG		zinc finger CCCH-type containing 13							145.0	137.0	140.0					13																	46619113		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46619113T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.204A>G	13.37:g.46619113T>C						ZC3H13_uc001vas.1_Silent_p.K68K|ZC3H13_uc001vat.1_Silent_p.K68K	p.K68K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	2	210	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	68					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.204A>G																																																																																					0.378	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	147	0	0	0	0.014758	0	5	147				
CYSLTR2	57105	broad.mit.edu	37	13	49281203	49281203	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:49281203G>C	ENST00000282018.3	+	1	253	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	84					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.D84H(2)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGCCATTTCAGATCTCCTGTT	0.443																																							uc010acx.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(250-252)GAT>CAT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						92.0	89.0	90.0					13																	49281203		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281203G>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.250G>C	13.37:g.49281203G>C	ENSP00000282018:p.Asp84His					CYSLTR2_uc010acy.1_Missense_Mutation_p.D84H|CYSLTR2_uc010acz.1_Missense_Mutation_p.D84H|CYSLTR2_uc010ada.1_Missense_Mutation_p.D84H|CYSLTR2_uc010adb.1_Missense_Mutation_p.D84H|CYSLTR2_uc010adc.1_Missense_Mutation_p.D84H|CYSLTR2_uc010add.1_Missense_Mutation_p.D84H|CYSLTR2_uc010acw.1_Missense_Mutation_p.D84H|CYSLTR2_uc001vck.2_Missense_Mutation_p.D84H	p.D84H	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	933	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	84			Helical; Name=2; (Potential).		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.250G>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674173	0.88445	.	.	ENSG00000152207	ENST00000282018	D	0.88818	-2.43	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.96800	0.8955	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97368	0.9974	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	84	Q9NS75	CLTR2_HUMAN	H	84	ENSP00000282018:D84H	ENSP00000282018:D84H	D	+	1	0	CYSLTR2	48179204	1.000000	0.71417	0.980000	0.43619	0.949000	0.60115	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GAT		0.443	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			17	139	0	0	0	0.004007	0	17	139				
SLITRK6	84189	broad.mit.edu	37	13	86369995	86369995	+	Missense_Mutation	SNP	C	C	T	rs376587606		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:86369995C>T	ENST00000400286.2	-	2	1247	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	217					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.D217N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATTTGTTGTCCTCCAACTGA	0.413																																							uc001vll.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(649-651)GAC>AAC		slit and trk like 6 precursor							88.0	79.0	82.0					13																	86369995		1885	4108	5993	SO:0001583	missense	84189					integral to membrane		g.chr13:86369995C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.649G>A	13.37:g.86369995C>T	ENSP00000383143:p.Asp217Asn					SLITRK6_uc010afe.1_5'UTR	p.D217N	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1108	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		217			Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.649G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290561	0.80914	.	.	ENSG00000184564	ENST00000400286	T	0.51325	0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	N	0.26092	0.79	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.53194	-0.8473	10	0.39692	T	0.17	-21.7157	18.9858	0.92769	0.0:1.0:0.0:0.0	.	217	Q9H5Y7	SLIK6_HUMAN	N	217	ENSP00000383143:D217N	ENSP00000383143:D217N	D	-	1	0	SLITRK6	85267996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAC		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		45	146	0	0	0	0.010771	0	45	146				
DZIP1	22873	broad.mit.edu	37	13	96274626	96274626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:96274626G>A	ENST00000376829.2	-	9	1932	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	DZIP1_ENST00000347108.3_Missense_Mutation_p.H361Y|DZIP1_ENST00000361396.2_Missense_Mutation_p.H361Y|DZIP1_ENST00000361156.3_Missense_Mutation_p.H361Y	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	361					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H361Y(4)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGACATTATGGAAATCCTGG	0.423																																							uc001vmk.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1081-1083)CAT>TAT		DAZ interacting protein 1 isoform 2							226.0	188.0	200.0					13																	96274626		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96274626G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1081C>T	13.37:g.96274626G>A	ENSP00000366025:p.His361Tyr					DZIP1_uc001vml.2_Missense_Mutation_p.H361Y	p.H361Y	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		9	1933	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		361					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1081C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	7.643	0.681327	0.14907	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.18	5.18	0.71444	.	0.582730	0.19186	N	0.120558	T	0.31231	0.0790	N	0.22421	0.69	0.31383	N	0.678799	B;B	0.17038	0.02;0.012	B;B	0.15870	0.014;0.006	T	0.26224	-1.0109	10	0.46703	T	0.11	-0.461	13.8199	0.63313	0.0:0.1527:0.8473:0.0	.	361;361	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Y	361	ENSP00000257312:H361Y;ENSP00000355018:H361Y;ENSP00000355175:H361Y;ENSP00000366025:H361Y	ENSP00000257312:H361Y	H	-	1	0	DZIP1	95072627	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.855000	0.55957	2.576000	0.86940	0.655000	0.94253	CAT		0.423	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		17	141	0	0	0	0.004007	0	17	141				
NALCN	259232	broad.mit.edu	37	13	101755531	101755531	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:101755531T>A	ENST00000251127.6	-	26	3130	c.3049A>T	c.(3049-3051)Att>Ttt	p.I1017F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1017					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.I1017F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCAAAAAAATTTCCTTGAAG	0.438																																							uc001vox.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3049-3051)ATT>TTT		voltage gated channel like 1							106.0	114.0	111.0					13																	101755531		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755531T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3049A>T	13.37:g.101755531T>A	ENSP00000251127:p.Ile1017Phe						p.I1017F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			26	3238	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1017			Helical; Name=S5 of repeat III; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3049A>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950658	0.73787	.	.	ENSG00000102452	ENST00000251127	D	0.98835	-5.17	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99066	1.0832	10	0.87932	D	0	.	15.0866	0.72158	0.0:0.0:0.0:1.0	.	1017	Q8IZF0	NALCN_HUMAN	F	1017	ENSP00000251127:I1017F	ENSP00000251127:I1017F	I	-	1	0	NALCN	100553532	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	7.552000	0.82192	2.015000	0.59207	0.528000	0.53228	ATT		0.438	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		22	205	0	0	0	0.014323	0	22	205				
NYNRIN	57523	broad.mit.edu	37	14	24885288	24885288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:24885288G>T	ENST00000382554.3	+	9	4651	c.4333G>T	c.(4333-4335)Gcc>Tcc	p.A1445S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1445					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.A1445S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGACACCCTGGCCAAGCAGGG	0.582																																							uc001wpf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4333-4335)GCC>TCC		hypothetical protein LOC57523							49.0	51.0	50.0					14																	24885288		1942	4127	6069	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885288G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4333G>T	14.37:g.24885288G>T	ENSP00000371994:p.Ala1445Ser						p.A1445S	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4651	+			1445					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4333G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968563	0.74131	.	.	ENSG00000205978	ENST00000382554	T	0.21031	2.03	5.39	5.39	0.77823	Ribonuclease H-like (1);	.	.	.	.	T	0.33527	0.0866	N	0.24115	0.695	0.33290	D	0.56342	D	0.76494	0.999	D	0.78314	0.991	T	0.29305	-1.0016	9	0.46703	T	0.11	.	16.7046	0.85368	0.0:0.0:1.0:0.0	.	1445	Q9P2P1	NYNRI_HUMAN	S	1445	ENSP00000371994:A1445S	ENSP00000371994:A1445S	A	+	1	0	NYNRIN	23955128	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.273000	0.58914	2.804000	0.96469	0.655000	0.94253	GCC		0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			10	55	1	0	9.70103e-10	0.008291	1.48899e-09	10	55				
PAPLN	89932	broad.mit.edu	37	14	73725989	73725989	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:73725989A>G	ENST00000554301.1	+	15	1884	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	PAPLN_ENST00000340738.5_Missense_Mutation_p.Q547R|PAPLN_ENST00000381166.3_Missense_Mutation_p.Q574R|PAPLN_ENST00000427855.1_Missense_Mutation_p.Q574R|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q574R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	574						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.Q547R(2)|p.Q574R(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGAGGCCAGTGGTGGGCA	0.647																																							uc010ttx.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1720-1722)CAG>CGG		papilin							92.0	95.0	94.0					14																	73725989		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73725989A>G	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1721A>G	14.37:g.73725989A>G	ENSP00000451803:p.Gln574Arg					PAPLN_uc001xnw.3_Missense_Mutation_p.Q547R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q574R|PAPLN_uc010arm.2_5'Flank	p.Q574R	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	15	1884	+			574					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1721A>G		.	.	.	.	.	.	.	.	.	.	A	16.84	3.232882	0.58777	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62788	-0.0;-0.0;0.27;-0.0;0.14	4.6	3.43	0.39272	.	.	.	.	.	T	0.53286	0.1787	L	0.51422	1.61	0.09310	N	1	P;P;B	0.47910	0.902;0.704;0.131	P;B;B	0.45946	0.498;0.236;0.033	T	0.37526	-0.9702	9	0.16420	T	0.52	.	3.7507	0.08565	0.7096:0.0:0.1:0.1904	.	574;574;547	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	547;574;574;574;574	ENSP00000345395:Q547R;ENSP00000403403:Q574R;ENSP00000370558:Q574R;ENSP00000451803:Q574R;ENSP00000451729:Q574R	ENSP00000216658:Q574R	Q	+	2	0	PAPLN	72795742	0.214000	0.23563	0.635000	0.29338	0.991000	0.79684	0.728000	0.26013	0.758000	0.33059	0.379000	0.24179	CAG		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		7	143	0	0	0	0.008291	0	7	143				
FLRT2	23768	broad.mit.edu	37	14	86089492	86089492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:86089492G>T	ENST00000330753.4	+	2	2401	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	FLRT2_ENST00000554746.1_Missense_Mutation_p.G545V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	545					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.G545V(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGCTGGCGGGCTTGATCGGG	0.587																																							uc001xvr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1633-1635)GGC>GTC		fibronectin leucine rich transmembrane protein 2							85.0	89.0	87.0					14																	86089492		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089492G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1634G>T	14.37:g.86089492G>T	ENSP00000332879:p.Gly545Val					FLRT2_uc010atd.2_Missense_Mutation_p.G545V	p.G545V	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2401	+			545			Helical; (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1634G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971551	0.74246	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.66460	-0.21;-0.21	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78342	-0.2241	10	0.49607	T	0.09	-19.9686	20.8794	0.99867	0.0:0.0:1.0:0.0	.	545	O43155	FLRT2_HUMAN	V	545;545;198	ENSP00000332879:G545V;ENSP00000451050:G545V	ENSP00000332879:G545V	G	+	2	0	FLRT2	85159245	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.867000	0.99620	2.941000	0.99782	0.655000	0.94253	GGC		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			11	88	1	0	4.36969e-10	0.016723	6.74619e-10	11	88				
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:94964180G>T	ENST00000341228.2	-	3	1350	c.555C>A	c.(553-555)acC>acA	p.T185T	SERPINA12_ENST00000556881.1_Silent_p.T185T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	185					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T185T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398																																							uc001ydj.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(553-555)ACC>ACA		serine (or cysteine) proteinase inhibitor, clade							92.0	89.0	90.0					14																	94964180		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964180G>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.555C>A	14.37:g.94964180G>T							p.T185T	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1351	-			185						Silent	SNP	ENST00000341228.2	37	c.555C>A	CCDS9926.1																																																																																				0.398	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		30	183	1	0	1.08312e-15	0.009535	1.95852e-15	30	183				
SERPINA4	5267	broad.mit.edu	37	14	95034546	95034546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr14:95034546G>T	ENST00000557004.1	+	4	1425	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R335M|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R335M			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	335					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATTTTGCCCAGGCTGGGCTTC	0.458																																							uc001ydk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1003-1005)AGG>ATG		serine (or cysteine) proteinase inhibitor, clade							98.0	98.0	98.0					14																	95034546		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034546G>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1004G>T	14.37:g.95034546G>T	ENSP00000450838:p.Arg335Met					SERPINA4_uc010avd.2_Missense_Mutation_p.R372M|SERPINA4_uc001ydl.2_Missense_Mutation_p.R335M	p.R335M	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1070	+			335					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1004G>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913446	0.52439	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83250	-1.7;-1.7;-1.7	5.45	-2.41	0.06562	Serpin domain (3);	1.024060	0.07828	N	0.960925	D	0.83566	0.5282	L	0.51853	1.615	0.09310	N	1	P;P	0.52463	0.953;0.938	P;P	0.61275	0.796;0.886	T	0.71507	-0.4572	10	0.72032	D	0.01	.	2.5319	0.04705	0.5199:0.1148:0.2532:0.1121	.	335;335	B2R815;P29622	.;KAIN_HUMAN	M	335	ENSP00000450838:R335M;ENSP00000451172:R335M;ENSP00000298841:R335M	ENSP00000298841:R335M	R	+	2	0	SERPINA4	94104299	0.000000	0.05858	0.161000	0.22692	0.456000	0.32438	0.439000	0.21575	-0.279000	0.09167	-0.345000	0.07892	AGG		0.458	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		45	191	1	0	1.8453e-21	0.010771	3.60858e-21	45	191				
MKRN3	7681	broad.mit.edu	37	15	23811566	23811566	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:23811566C>G	ENST00000314520.3	+	1	1113	c.637C>G	c.(637-639)Cgg>Ggg	p.R213G	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	213					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R213G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGCCCTACCGGGGCCGCTG	0.587																																							uc001ywh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(637-639)CGG>GGG		makorin ring finger protein 3							37.0	43.0	41.0					15																	23811566		2202	4300	6502	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811566C>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.637C>G	15.37:g.23811566C>G	ENSP00000313881:p.Arg213Gly					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R213G	p.R213G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1113	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	213						Missense_Mutation	SNP	ENST00000314520.3	37	c.637C>G	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483858	0.26598	.	.	ENSG00000179455	ENST00000314520	T	0.31769	1.48	4.07	-1.17	0.09648	.	0.203074	0.41194	D	0.000936	T	0.15392	0.0371	N	0.14661	0.345	0.41808	D	0.98995	P	0.47034	0.889	P	0.46940	0.532	T	0.19745	-1.0296	10	0.22109	T	0.4	.	2.9407	0.05829	0.3551:0.353:0.0:0.2919	.	213	Q13064	MKRN3_HUMAN	G	213	ENSP00000313881:R213G	ENSP00000313881:R213G	R	+	1	2	MKRN3	21362659	0.792000	0.28813	0.940000	0.37924	0.963000	0.63663	-0.164000	0.09983	-0.202000	0.10268	0.655000	0.94253	CGG		0.587	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		5	33	0	0	0	0.001168	0	5	33				
TRPM1	4308	broad.mit.edu	37	15	31362381	31362381	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:31362381A>T	ENST00000256552.6	-	4	279	c.132T>A	c.(130-132)agT>agA	p.S44R	TRPM1_ENST00000542188.1_Missense_Mutation_p.S61R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S22R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S22R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.S22R(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGGTGTTGCACTTGGCAGAG	0.512																																							uc001zfm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(64-66)AGT>AGA		transient receptor potential cation channel,							267.0	252.0	257.0					15																	31362381		1976	4169	6145	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362381A>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.132T>A	15.37:g.31362381A>T	ENSP00000256552:p.Ser44Arg					TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.S22R|uc010ubn.1_RNA	p.S22R	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	194	-		all_lung(180;1.92e-11)	22			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.66T>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	A	9.035	0.988297	0.18966	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.71934	-0.61;-0.61;-0.61	6.03	-3.58	0.04597	.	0.172074	0.37906	U	0.001883	T	0.76263	0.3963	L	0.56769	1.78	0.09310	N	1	D;B	0.57899	0.981;0.04	D;B	0.64237	0.923;0.13	T	0.74044	-0.3791	10	0.87932	D	0	-2.2395	14.1419	0.65325	0.5194:0.0:0.4806:0.0	.	22;22	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	R	22;61;44;22	ENSP00000380897:S22R;ENSP00000437849:S61R;ENSP00000256552:S44R	ENSP00000256552:S44R	S	-	3	2	TRPM1	29149673	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.099000	0.15210	-0.983000	0.03511	-0.256000	0.11100	AGT		0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		54	455	0	0	0	0.01441	0	54	455				
RYR3	6263	broad.mit.edu	37	15	33945030	33945030	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:33945030C>A	ENST00000389232.4	+	32	4324	c.4254C>A	c.(4252-4254)gcC>gcA	p.A1418A	RYR3_ENST00000415757.3_Silent_p.A1418A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1418	4 X approximate repeats.|B30.2/SPRY 3. {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)	p.A1418A(2)		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)		TGGATCTGGCCATGGGCATGT	0.577																																							uc001zhi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4252-4254)GCC>GCA		ryanodine receptor 3							115.0	116.0	116.0					15																	33945030		2035	4204	6239	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33945030C>A		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.4254C>A	15.37:g.33945030C>A						RYR3_uc010bar.2_Silent_p.A1418A	p.A1418A	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)	32	4324	+		all_lung(180;7.18e-09)	1418			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4254C>A	CCDS45210.1																																																																																				0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	63	1	0	1.76689e-08	0.006214	2.5214e-08	10	63				
MGA	23269	broad.mit.edu	37	15	42042472	42042472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:42042472G>T	ENST00000570161.1	+	16	6667	c.6667G>T	c.(6667-6669)Gac>Tac	p.D2223Y	MGA_ENST00000219905.7_Missense_Mutation_p.D2223Y|MGA_ENST00000566586.1_Missense_Mutation_p.D2014Y|MGA_ENST00000389936.4_Missense_Mutation_p.D2184Y|MGA_ENST00000545763.1_Missense_Mutation_p.D2014Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.D2272Y(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCATCTCTGACTTACTTGG	0.378																																							uc010ucy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(6667-6669)GAC>TAC		MAX-interacting protein isoform 1							142.0	141.0	141.0					15																	42042472		1859	4106	5965	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042472G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6667G>T	15.37:g.42042472G>T	ENSP00000457035:p.Asp2223Tyr					MGA_uc010ucz.1_Missense_Mutation_p.D2014Y|MGA_uc010uda.1_Missense_Mutation_p.D839Y|MGA_uc001zoi.2_Missense_Mutation_p.D437Y	p.D2223Y	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6848	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2184			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6667G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803787	0.50315	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86627	-2.13;-2.14;-2.15	4.94	4.94	0.65067	.	1.114660	0.06918	N	0.808880	D	0.88851	0.6549	N	0.19112	0.55	0.30077	N	0.809564	D;D;D;D	0.63046	0.992;0.992;0.963;0.963	P;P;P;P	0.60473	0.754;0.875;0.647;0.647	T	0.83011	-0.0172	10	0.87932	D	0	.	15.483	0.75542	0.0:0.0:1.0:0.0	.	839;2014;2223;2184	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	Y	2223;2184;2014	ENSP00000219905:D2223Y;ENSP00000374586:D2184Y;ENSP00000442467:D2014Y	ENSP00000219905:D2223Y	D	+	1	0	MGA	39829764	1.000000	0.71417	0.887000	0.34795	0.870000	0.49936	3.865000	0.56033	2.565000	0.86533	0.467000	0.42956	GAC		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		24	170	1	0	6.21321e-17	0.016522	1.15513e-16	24	170				
CHRNB4	1143	broad.mit.edu	37	15	78921890	78921890	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:78921890C>A	ENST00000261751.3	-	5	868	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	253					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.V253F(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGTAGAAGACGAGGATGGCC	0.552																																							uc002bed.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(757-759)GTC>TTC		cholinergic receptor, nicotinic, beta 4							298.0	232.0	254.0					15																	78921890		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921890C>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.757G>T	15.37:g.78921890C>A	ENSP00000261751:p.Val253Phe					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.V71F	p.V253F	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	869	-			253			Helical; (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.757G>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699227	0.88830	.	.	ENSG00000117971	ENST00000261751	T	0.73897	-0.79	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92802	0.7711	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95568	0.8635	10	0.87932	D	0	.	19.53	0.95225	0.0:1.0:0.0:0.0	.	253	P30926	ACHB4_HUMAN	F	253	ENSP00000261751:V253F	ENSP00000261751:V253F	V	-	1	0	CHRNB4	76708945	1.000000	0.71417	0.980000	0.43619	0.831000	0.47069	7.766000	0.85320	2.637000	0.89404	0.655000	0.94253	GTC		0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			14	85	1	0	1.00905e-13	0.008871	1.76416e-13	14	85				
KIAA1024	23251	broad.mit.edu	37	15	79750731	79750731	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:79750731G>A	ENST00000305428.3	+	2	2317	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	748						integral component of membrane (GO:0016021)		p.E748K(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATGAGGAGGAGATAAAAGA	0.468																																							uc002bew.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2242-2244)GAG>AAG		hypothetical protein LOC23251							58.0	61.0	60.0					15																	79750731		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750731G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2242G>A	15.37:g.79750731G>A	ENSP00000307461:p.Glu748Lys					KIAA1024_uc010unk.1_Missense_Mutation_p.E748K	p.E748K	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2317	+			748					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2242G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240189	0.58995	.	.	ENSG00000169330	ENST00000305428	T	0.35789	1.29	5.93	5.01	0.66863	.	0.301841	0.31734	N	0.007157	T	0.36193	0.0958	L	0.57536	1.79	0.45066	D	0.998085	B	0.16603	0.018	B	0.16722	0.016	T	0.11867	-1.0570	9	.	.	.	.	14.9859	0.71348	0.0683:0.0:0.9317:0.0	.	748	Q9UPX6	K1024_HUMAN	K	748	ENSP00000307461:E748K	.	E	+	1	0	KIAA1024	77537786	1.000000	0.71417	0.197000	0.23402	0.107000	0.19398	6.309000	0.72825	1.499000	0.48617	0.655000	0.94253	GAG		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		12	74	0	0	0	0.013537	0	12	74				
IL16	3603	broad.mit.edu	37	15	81592014	81592015	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:81592014_81592015CC>AA	ENST00000302987.4	+	13	2347_2348	c.2347_2348CC>AA	c.(2347-2349)CCt>AAt	p.P783N	IL16_ENST00000394660.2_Missense_Mutation_p.P783N|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P82N			Q14005	IL16_HUMAN	interleukin 16	783					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P737N(2)|p.P783N(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAGGTCCTCCTGTGGCT	0.569																																							uc002bgh.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|skin(1)	4						c.(2347-2349)CCT>AAT		interleukin 16 isoform 2																																				SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592014_81592015CC>AA	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	Exception_encountered	15.37:g.81592014_81592015delinsAA	ENSP00000302935:p.Pro783Asn					IL16_uc010blq.1_Missense_Mutation_p.P737N|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P825N|IL16_uc002bgg.2_Missense_Mutation_p.P783N|IL16_uc002bgi.1_Missense_Mutation_p.P173N|IL16_uc002bgj.2_Missense_Mutation_p.P277N|IL16_uc002bgk.2_Missense_Mutation_p.P82N|IL16_uc002bgl.1_Missense_Mutation_p.P82N|IL16_uc010unq.1_Missense_Mutation_p.P82N	p.P783N	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	2723_2724	+			783					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	DNP	ENST00000302987.4	37	c.2347_2348CC>AA	CCDS42069.1																																																																																				0.569	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		8	83	0	0	0	0.004672	0	8	83				
HDGFRP3	50810	broad.mit.edu	37	15	83826167	83826167	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:83826167C>A	ENST00000299633.4	-	4	1062	c.459G>T	c.(457-459)aaG>aaT	p.K153N		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		153					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K153N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTTAGTAACCTTTGAAGTAT	0.308																																							uc002bjs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(457-459)AAG>AAT		hepatoma-derived growth factor, related protein							153.0	128.0	137.0					15																	83826167		2202	4300	6502	SO:0001630	splice_region_variant	50810				cell proliferation	nucleus	growth factor activity	g.chr15:83826167C>A																												ENST00000299633.4:c.459+1G>T	15.37:g.83826167C>A							p.K153N	NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN			4	614	-			153						Missense_Mutation	SNP	ENST00000299633.4	37	c.459G>T	CCDS32314.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657161	0.67586	.	.	ENSG00000166503	ENST00000299633	T	0.71934	-0.61	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.47716	1.5	0.80722	D	1	B	0.20780	0.048	B	0.15870	0.014	T	0.58103	-0.7695	9	.	.	.	.	15.5803	0.76428	0.0:1.0:0.0:0.0	.	153	Q9Y3E1	HDGR3_HUMAN	N	153	ENSP00000299633:K153N	.	K	-	3	2	AC024270.1	81617171	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.121000	0.64691	2.668000	0.90789	0.655000	0.94253	AAG		0.308	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1		Missense_Mutation	10	90	1	0	0.00010058	0.013537	0.000118014	10	90				
ADAMTSL3	57188	broad.mit.edu	37	15	84611369	84611369	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr15:84611369G>T	ENST00000286744.5	+	18	2363	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G	ADAMTSL3_ENST00000567476.1_Silent_p.G713G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	713	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.		G -> R (in dbSNP:rs34047645).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G713G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTTGGGGGCCCTGCTCAG	0.537																																							uc002bjz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2137-2139)GGG>GGT		ADAMTS-like 3 precursor							84.0	87.0	86.0					15																	84611369		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611369G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2139G>T	15.37:g.84611369G>T						ADAMTSL3_uc010bmt.1_Silent_p.G713G|ADAMTSL3_uc010bmu.1_Silent_p.G713G	p.G713G	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2363	+			713			TSP type-1 5.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2139G>T	CCDS10326.1																																																																																				0.537	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		12	107	1	0	6.72482e-11	0.003163	1.0959e-10	12	107				
NOMO1	23420	broad.mit.edu	37	16	14982998	14982998	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:14982998G>T	ENST00000287667.7	+	29	3541	c.3370G>T	c.(3370-3372)Gac>Tac	p.D1124Y		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1124						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.D1124Y(2)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATCCCAGTATGACTACATCTT	0.423																																							uc002dcv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3370-3372)GAC>TAC		nodal modulator 1 precursor							3.0	1.0	2.0					16																	14982998		989	2067	3056	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14982998G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3370G>T	16.37:g.14982998G>T	ENSP00000287667:p.Asp1124Tyr						p.D1124Y	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			29	3436	+			1124			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3370G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386098	0.61956	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.40476	1.03	3.34	3.34	0.38264	.	0.051561	0.85682	D	0.000000	T	0.42245	0.1194	L	0.56769	1.78	0.80722	D	1	P	0.49447	0.924	B	0.44085	0.44	T	0.51268	-0.8727	10	0.87932	D	0	-20.4215	12.2712	0.54708	0.0:0.0:1.0:0.0	.	1124	Q15155	NOMO1_HUMAN	Y	1124;1124;957	ENSP00000287667:D1124Y	ENSP00000287667:D1124Y	D	+	1	0	NOMO1	14890499	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.991000	0.93514	1.701000	0.51217	0.398000	0.26397	GAC		0.423	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			44	369	1	0	3.40343e-31	0.01441	7.07484e-31	44	369				
SMG1	23049	broad.mit.edu	37	16	18881188	18881188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:18881188G>C	ENST00000446231.2	-	19	3033	c.2621C>G	c.(2620-2622)tCt>tGt	p.S874C	SMG1_ENST00000389467.3_Missense_Mutation_p.S874C|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	874	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S870C(2)|p.S874C(2)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTCTATGAGAGTTCCCATA	0.318																																							uc002dfm.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(2620-2622)TCT>TGT		PI-3-kinase-related kinase SMG-1							22.0	23.0	23.0					16																	18881188		1618	3606	5224	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18881188G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2621C>G	16.37:g.18881188G>C	ENSP00000402515:p.Ser874Cys					SMG1_uc010bwb.2_Missense_Mutation_p.S734C	p.S874C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			19	2984	-			874			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2621C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358049	0.61403	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.12569	2.67;2.67	5.67	5.67	0.87782	Armadillo-type fold (1);	0.111662	0.40554	N	0.001064	T	0.12263	0.0298	L	0.34521	1.04	0.29503	N	0.854784	B	0.28512	0.214	B	0.25140	0.058	T	0.06006	-1.0851	10	0.38643	T	0.18	.	14.9227	0.70851	0.0702:0.0:0.9298:0.0	.	874	Q96Q15	SMG1_HUMAN	C	874	ENSP00000402515:S874C;ENSP00000374118:S874C	ENSP00000374118:S874C	S	-	2	0	SMG1	18788689	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.194000	0.51005	2.694000	0.91930	0.555000	0.69702	TCT		0.318	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	41	0	0	0	0.00308	0	6	41				
UMOD	7369	broad.mit.edu	37	16	20352502	20352502	+	Silent	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:20352502C>G	ENST00000570689.1	-	7	1634	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	UMOD_ENST00000396138.4_Silent_p.L545L|UMOD_ENST00000396142.2_Silent_p.L496L|UMOD_ENST00000424589.1_Silent_p.L529L|UMOD_ENST00000396134.2_Silent_p.L529L|UMOD_ENST00000302509.4_Silent_p.L496L|UMOD_ENST00000570331.1_5'UTR			P07911	UROM_HUMAN	uromodulin	496	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.L496L(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAAATCGGGACAGGTCGCCCC	0.567																																							uc002dgz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1486-1488)CTG>CTC		uromodulin precursor							116.0	90.0	99.0					16																	20352502		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352502C>G	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1488G>C	16.37:g.20352502C>G						UMOD_uc002dha.2_Silent_p.L496L|UMOD_uc002dhb.2_Silent_p.L529L	p.L496L	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1617	-			496			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1488G>C	CCDS10583.1																																																																																				0.567	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			4	49	0	0	0	0.014758	0	4	49				
TNRC6A	27327	broad.mit.edu	37	16	24834793	24834793	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:24834793A>T	ENST00000395799.3	+	25	5683	c.5554A>T	c.(5554-5556)Agt>Tgt	p.S1852C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1803C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.S330C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1852	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1852C(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGAGTTTGCCAGTGAAGAGGA	0.577																																							uc002dmm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5554-5556)AGT>TGT		trinucleotide repeat containing 6A							120.0	120.0	120.0					16																	24834793		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24834793A>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5554A>T	16.37:g.24834793A>T	ENSP00000379144:p.Ser1852Cys					TNRC6A_uc010bxs.2_Missense_Mutation_p.S1599C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1550C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1491C|TNRC6A_uc002dmr.2_Missense_Mutation_p.S51C	p.S1852C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	25	5668	+			1852			Sufficient for interaction with EIF2C2.|RRM.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5554A>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	16.73|16.73	3.203835|3.203835	0.58234|0.58234	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T	.|0.16196	.|2.39;2.36	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Nucleotide-binding, alpha-beta plait (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37517|0.37517	0.1006|0.1006	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.15809|0.15809	-1.0424|-1.0424	5|10	.|0.87932	.|D	.|0	-7.1388|-7.1388	14.6784|14.6784	0.68998|0.68998	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1803;1852	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	L|C	742|1803;1852;330	.|ENSP00000326900:S1803C;ENSP00000379144:S1852C	.|ENSP00000326900:S1803C	Q|S	+|+	2|1	0|0	TNRC6A|TNRC6A	24742294|24742294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.411000|7.411000	0.80078|0.80078	1.868000|1.868000	0.54150|0.54150	0.529000|0.529000	0.55759|0.55759	CAG|AGT		0.577	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		30	165	0	0	0	0.012213	0	30	165				
CTCF	10664	broad.mit.edu	37	16	67662413	67662413	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67662413G>T	ENST00000264010.4	+	9	2103	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	CTCF_ENST00000401394.1_Silent_p.A225A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	553					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A553A(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGTCCCTGCGGCTTTTGTCT	0.483																																					Colon(175;1200 1966 6945 23069 27405)	Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1657-1659)GCG>GCT		CCCTC-binding factor							217.0	194.0	202.0					16																	67662413		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662413G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1659G>T	16.37:g.67662413G>T						CTCF_uc010cek.2_Silent_p.A225A|CTCF_uc002etm.1_Silent_p.A42A	p.A553A	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1949	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	553					B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1659G>T	CCDS10841.1																																																																																				0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		22	157	1	0	1.55469e-16	0.01892	2.85027e-16	22	157				
CTCF	10664	broad.mit.edu	37	16	67663408	67663408	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr16:67663408C>T	ENST00000264010.4	+	10	2253	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	CTCF_ENST00000401394.1_Silent_p.R275R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	603					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R603R(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAAGATGCGCTCTAAGAAAG	0.448																																					Colon(175;1200 1966 6945 23069 27405)	Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1807-1809)CGC>CGT		CCCTC-binding factor							176.0	161.0	166.0					16																	67663408		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663408C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1809C>T	16.37:g.67663408C>T						CTCF_uc010cek.2_Silent_p.R275R|CTCF_uc002etm.1_Silent_p.R92R	p.R603R	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	10	2099	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	603					B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1809C>T	CCDS10841.1																																																																																				0.448	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		5	97	0	0	0	0.001168	0	5	97				
DNAH9	1770	broad.mit.edu	37	17	11656186	11656186	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:11656186T>A	ENST00000262442.4	+	33	6715	c.6647T>A	c.(6646-6648)aTc>aAc	p.I2216N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2216N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2216	AAA 2. {ECO:0000250}.			I -> T (in Ref. 5; BAA21573). {ECO:0000305}.	cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I2216N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGCCAACATCACCCATGAT	0.413																																							uc002gne.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6646-6648)ATC>AAC		dynein, axonemal, heavy chain 9 isoform 2							130.0	113.0	119.0					17																	11656186		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11656186T>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6647T>A	17.37:g.11656186T>A	ENSP00000262442:p.Ile2216Asn					DNAH9_uc010coo.2_Missense_Mutation_p.I1510N	p.I2216N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	33	6715	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2216	I -> T (in Ref. 4; BAA21573).		AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6647T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451269	0.63290	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.24538	1.85;1.85	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.185606	0.45126	D	0.000398	T	0.18383	0.0441	N	0.12961	0.28	0.80722	D	1	B	0.27498	0.18	B	0.34242	0.178	T	0.09997	-1.0649	10	0.12766	T	0.61	.	16.0147	0.80427	0.0:0.0:0.0:1.0	.	2216	Q9NYC9	DYH9_HUMAN	N	2216;2216;798	ENSP00000262442:I2216N;ENSP00000414874:I2216N	ENSP00000262442:I2216N	I	+	2	0	DNAH9	11596911	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	7.997000	0.88414	2.237000	0.73441	0.460000	0.39030	ATC		0.413	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	99	0	0	0	0.012319	0	18	99				
FLOT2	2319	broad.mit.edu	37	17	27209238	27209238	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:27209238C>T	ENST00000394908.4	-	7	701	c.597G>A	c.(595-597)aaG>aaA	p.K199K	FLOT2_ENST00000585169.1_Silent_p.K199K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.K254K	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	199					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K199K(2)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCATCTCCTTCTTGCACT	0.522																																							uc002hdc.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(595-597)AAG>AAA		flotillin 2							108.0	113.0	111.0					17																	27209238		2134	4255	6389	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209238C>T	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.597G>A	17.37:g.27209238C>T							p.K199K	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		7	720	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		199						Silent	SNP	ENST00000394908.4	37	c.597G>A	CCDS11245.2																																																																																				0.522	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		20	158	0	0	0	0.007413	0	20	158				
WNK4	65266	broad.mit.edu	37	17	40948054	40948054	+	Intron	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:40948054G>A	ENST00000246914.5	+	16	3452				CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4						chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.?(4)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CGGCAGAAGTGAGTCTCGGGA	0.567																																					Esophageal Squamous(6;201 374 4964 23855 42828)		uc010wgz.1		NA																	4	Unknown(4)		lung(4)		0						c.(202-204)CTC>CTT		SubName: Full=cDNA FLJ50764;							61.0	60.0	61.0					17																	40948054		2203	4300	6503	SO:0001627	intron_variant	28958					integral to membrane		g.chr17:40948054G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3431+3G>A	17.37:g.40948054G>A						WNK4_uc002ibj.2_Intron|WNK4_uc010wgx.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	p.L68L			Q9Y2R0	CCD56_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	481	-		Breast(137;0.00104)	Error:Variant_position_missing_in_Q9Y2R0_after_alignment					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.204C>T	CCDS11439.1																																																																																				0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			14	63	0	0	0	0.016723	0	14	63				
UTP18	51096	broad.mit.edu	37	17	49357467	49357467	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:49357467G>T	ENST00000225298.7	+	8	1170		c.e8+1			NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)						rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(2)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGCAATGAAGGTAAAGCATTA	0.413																																							uc002its.2		NA																	2	Unknown(2)		lung(2)		0						c.e8+1		UTP18, small subunit processome component							71.0	65.0	67.0					17																	49357467		1881	4116	5997	SO:0001630	splice_region_variant	51096				rRNA processing	nucleolus		g.chr17:49357467G>T	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1113+1G>T	17.37:g.49357467G>T							p.K371_splice	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		8	1162	+								Q9H4N6	Splice_Site	SNP	ENST00000225298.7	37	c.1113_splice	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704562	0.48412	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP18	46712466	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	7.280000	0.78610	2.632000	0.89209	0.650000	0.86243	.		0.413	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001	Intron	5	53	1	0	0.00116845	0.001168	0.00130156	5	53				
ANAPC11	51529	broad.mit.edu	37	17	79857813	79857813	+	Missense_Mutation	SNP	G	G	T	rs11550405		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr17:79857813G>T	ENST00000575195.2	+	2	307	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	ANAPC11_ENST00000392376.3_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572851.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000578544.1_3'UTR|ANAPC11_ENST00000579133.1_3'UTR|ANAPC11_ENST00000577747.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000577425.1_3'UTR|ANAPC11_ENST00000578550.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000344877.5_Missense_Mutation_p.D43Y|ANAPC11_ENST00000357385.3_Missense_Mutation_p.R143L|ANAPC11_ENST00000579978.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000574924.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000571874.2_Missense_Mutation_p.D43Y|NPB_ENST00000573081.1_5'Flank|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000571024.2_Missense_Mutation_p.D43Y|ANAPC11_ENST00000572639.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000583839.1_Missense_Mutation_p.D43Y|ANAPC11_ENST00000571570.1_Missense_Mutation_p.D43Y			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R143L(1)		kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCGGCGACGACTGCCCGCT	0.637																																							uc002kbv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAC>TAC		APC11 anaphase promoting complex subunit 11							106.0	76.0	86.0					17																	79857813		2202	4299	6501	SO:0001583	missense	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857813G>T	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.127G>T	17.37:g.79857813G>T	ENSP00000458515:p.Asp43Tyr					ANAPC11_uc002kbw.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kbx.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kby.1_Missense_Mutation_p.R143L|ANAPC11_uc002kbz.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kca.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kcb.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kcc.1_Missense_Mutation_p.D43Y|ANAPC11_uc010dih.1_Missense_Mutation_p.D43Y|NPB_uc002kcd.2_5'Flank	p.D43Y	NM_016476	NP_057560	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	342	+	all_neural(118;0.0878)|Ovarian(332;0.12)		43			RING-type.		A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	c.127G>T	CCDS11789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.693848|3.693848	0.68386|0.68386	.|.	.|.	ENSG00000141552|ENSG00000141552	ENST00000344877;ENST00000392376|ENST00000357385	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);|.	.|.	.|.	.|.	.|.	T|T	0.76241|0.76241	0.3960|0.3960	.|.	.|.	.|.	0.58432|0.58432	D|D	0.99999|0.99999	D|D	0.76494|0.89917	0.999|1.0	D|D	0.72625|0.85130	0.978|0.997	T|T	0.70745|0.70745	-0.4788|-0.4788	7|7	0.87932|0.18276	D|T	0|0.48	-17.4635|-17.4635	18.9233|18.9233	0.92534|0.92534	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43|143	Q9NYG5|Q9NYG5-2	APC11_HUMAN|.	Y|L	43|143	.|.	ENSP00000339695:D43Y|ENSP00000349957:R143L	D|R	+|+	1|2	0|0	ANAPC11|ANAPC11	77451105|77451105	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.351000|0.351000	0.29236|0.29236	6.011000|6.011000	0.70760|0.70760	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.637	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		4	30	1	0	1.23904e-05	0.014758	1.52143e-05	4	30				
MC5R	4161	broad.mit.edu	37	18	13826463	13826463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:13826463C>A	ENST00000324750.3	+	1	921	c.699C>A	c.(697-699)agC>agA	p.S233R	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	233				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.S233R(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGAGGACCAGCATGCAGGGCG	0.612																																							uc010xaf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(1)	6						c.(697-699)AGC>AGA		melanocortin 5 receptor							208.0	173.0	185.0					18																	13826463		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826463C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.699C>A	18.37:g.13826463C>A	ENSP00000318077:p.Ser233Arg						p.S233R	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	699	+			233	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.699C>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365459	0.61513	.	.	ENSG00000176136	ENST00000324750	T	0.71698	-0.59	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.078152	0.85682	D	0.000000	T	0.81211	0.4775	M	0.75085	2.285	0.80722	D	1	D	0.56968	0.978	P	0.57425	0.82	D	0.83543	0.0097	10	0.56958	D	0.05	.	17.0064	0.86394	0.0:1.0:0.0:0.0	.	233	P33032	MC5R_HUMAN	R	233	ENSP00000318077:S233R	ENSP00000318077:S233R	S	+	3	2	MC5R	13816463	1.000000	0.71417	0.596000	0.28811	0.029000	0.11900	4.630000	0.61297	2.246000	0.74042	0.305000	0.20034	AGC		0.612	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		40	181	1	0	1.69901e-12	0.005524	2.8938e-12	40	181				
NETO1	81832	broad.mit.edu	37	18	70417550	70417550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr18:70417550C>G	ENST00000327305.6	-	9	1945	c.1288G>C	c.(1288-1290)Gac>Cac	p.D430H	NETO1_ENST00000299430.2_Missense_Mutation_p.D429H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.D430H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	430					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.D430H(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGATGGTCATGAATGCAT	0.493																																							uc002lkw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1288-1290)GAC>CAC		neuropilin- and tolloid-like protein 1 isoform 3							129.0	116.0	120.0					18																	70417550		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417550C>G	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1288G>C	18.37:g.70417550C>G	ENSP00000313088:p.Asp430His					NETO1_uc002lkx.1_Missense_Mutation_p.D429H|NETO1_uc002lky.1_Missense_Mutation_p.D430H	p.D430H	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1572	-		Esophageal squamous(42;0.129)	430			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1288G>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360270	0.82353	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.47177	0.85;0.85	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.64800	0.2631	L	0.53249	1.67	0.80722	D	1	D;D	0.64830	0.986;0.994	P;P	0.62014	0.824;0.897	T	0.65298	-0.6202	10	0.87932	D	0	-4.0912	20.055	0.97649	0.0:1.0:0.0:0.0	.	429;430	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	430;429	ENSP00000313088:D430H;ENSP00000299430:D429H	ENSP00000299430:D429H	D	-	1	0	NETO1	68568530	1.000000	0.71417	0.979000	0.43373	0.829000	0.46940	7.484000	0.81180	2.743000	0.94032	0.455000	0.32223	GAC		0.493	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		13	61	0	0	0	0.013537	0	13	61				
MUC16	94025	broad.mit.edu	37	19	9046706	9046706	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9046706G>T	ENST00000397910.4	-	5	35128	c.34925C>A	c.(34924-34926)aCt>aAt	p.T11642N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11644	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7275N(2)|p.T11642N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTACTAGTGTCTGTTGC	0.517																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34924-34926)ACT>AAT		mucin 16							161.0	157.0	159.0					19																	9046706		2075	4209	6284	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046706G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34925C>A	19.37:g.9046706G>T	ENSP00000381008:p.Thr11642Asn						p.T11642N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35129	-			11644			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34925C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.578	0.291466	0.10567	.	.	ENSG00000181143	ENST00000397910	T	0.03035	4.07	3.0	0.715	0.18186	.	.	.	.	.	T	0.06690	0.0171	L	0.43152	1.355	.	.	.	D	0.64830	0.994	P	0.53912	0.737	T	0.27606	-1.0069	8	0.87932	D	0	.	5.9812	0.19409	0.12:0.196:0.684:0.0	.	11642	B5ME49	.	N	11642	ENSP00000381008:T11642N	ENSP00000381008:T11642N	T	-	2	0	MUC16	8907706	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.468000	0.06656	0.295000	0.22570	0.394000	0.25966	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	107	1	0	1.28384e-07	0.012319	1.72047e-07	20	107				
MUC16	94025	broad.mit.edu	37	19	9061615	9061615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9061615G>T	ENST00000397910.4	-	3	26034	c.25831C>A	c.(25831-25833)Cct>Act	p.P8611T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8613	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8611T(4)|p.P4244T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTCAGGTTCTGAGCTT	0.483																																							uc002mkp.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25831-25833)CCT>ACT		mucin 16							140.0	130.0	133.0					19																	9061615		2023	4184	6207	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061615G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25831C>A	19.37:g.9061615G>T	ENSP00000381008:p.Pro8611Thr						p.P8611T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26035	-			8613			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25831C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.334	0.061295	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.51	-3.65	0.04502	.	.	.	.	.	T	0.23410	0.0566	L	0.29908	0.895	.	.	.	B	0.23540	0.087	B	0.33121	0.158	T	0.42207	-0.9465	8	0.87932	D	0	.	2.0261	0.03519	0.1259:0.3618:0.3287:0.1837	.	8611	B5ME49	.	T	8611	ENSP00000381008:P8611T	ENSP00000381008:P8611T	P	-	1	0	MUC16	8922615	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.878000	0.01630	-0.618000	0.05656	0.450000	0.29827	CCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	82	1	0	0.000978159	0.010729	0.00109887	11	82				
MUC16	94025	broad.mit.edu	37	19	9089295	9089295	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:9089295G>T	ENST00000397910.4	-	1	2723	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	840	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L840L(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACACTTGGGAGGCTGAGAG	0.468																																							uc002mkp.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2518-2520)CTC>CTA		mucin 16							158.0	149.0	152.0					19																	9089295		1979	4167	6146	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089295G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2520C>A	19.37:g.9089295G>T							p.L840L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2724	-			840			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2520C>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	143	1	0	4.35082e-09	0.010504	6.48935e-09	16	143				
KEAP1	9817	broad.mit.edu	37	19	10610279	10610279	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:10610279G>A	ENST00000171111.5	-	2	978	c.431C>T	c.(430-432)tCc>tTc	p.S144F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S144F|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	144	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.S144F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CATGGAGATGGAGGCCGTGTA	0.587																																							uc002moq.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(430-432)TCC>TTC		kelch-like ECH-associated protein 1							161.0	129.0	140.0					19																	10610279		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610279G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.431C>T	19.37:g.10610279G>A	ENSP00000171111:p.Ser144Phe					KEAP1_uc002mor.1_Missense_Mutation_p.S144F	p.S144F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	587	-			144			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.431C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677430	0.68042	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.68479	-0.33;-0.33	4.81	4.81	0.61882	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.162209	0.53938	D	0.000054	T	0.74458	0.3719	L	0.58510	1.815	0.53688	D	0.999976	D	0.67145	0.996	P	0.60609	0.877	T	0.76782	-0.2832	10	0.66056	D	0.02	.	11.3101	0.49358	0.0:0.1846:0.8154:0.0	.	144	Q14145	KEAP1_HUMAN	F	144	ENSP00000171111:S144F;ENSP00000377245:S144F	ENSP00000171111:S144F	S	-	2	0	KEAP1	10471279	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.664000	0.46783	2.232000	0.73038	0.561000	0.74099	TCC		0.587	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		11	51	0	0	0	0.008291	0	11	51				
CEACAM7	1087	broad.mit.edu	37	19	42191008	42191009	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:42191008_42191009CC>AA	ENST00000006724.3	-	2	409_410	c.208_209GG>TT	c.(208-210)GGg>TTg	p.G70L	CEACAM7_ENST00000602225.1_Missense_Mutation_p.G70L|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G70L|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G70L|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	70	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G70L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CACCCTTTCCCCTTTGTACCAG	0.441																																							uc002ori.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(208-210)GGG>TTG		carcinoembryonic antigen-related cell adhesion																																				SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42191008_42191009CC>AA	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.208_209delinsAA	19.37:g.42191008_42191009delinsAA	ENSP00000006724:p.Gly70Leu					CEACAM7_uc010ehx.2_Missense_Mutation_p.G70L|CEACAM7_uc010ehy.1_Missense_Mutation_p.G70L	p.G70L	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	210_211	-			70			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	DNP	ENST00000006724.3	37	c.208_209GG>TT	CCDS12583.1																																																																																				0.441	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		18	147	0	0	0	0.004672	0	18	147				
ZNF766	90321	broad.mit.edu	37	19	52794388	52794388	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:52794388T>C	ENST00000439461.1	+	4	1387	c.1344T>C	c.(1342-1344)ttT>ttC	p.F448F	ZNF766_ENST00000359102.4_Intron|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Intron	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F448F(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GTAAGGTCTTTAGGCACAGTT	0.413																																							uc002pyr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1342-1344)TTT>TTC		zinc finger protein 766							141.0	149.0	146.0					19																	52794388		2202	4299	6501	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52794388T>C	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1344T>C	19.37:g.52794388T>C						ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Intron	p.F448F	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	1387	+			448			C2H2-type 10.		B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.1344T>C	CCDS46163.1																																																																																				0.413	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		7	191	0	0	0	0.001984	0	7	191				
NLRP8	126205	broad.mit.edu	37	19	56467169	56467169	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr19:56467169G>T	ENST00000291971.3	+	3	1816	c.1745G>T	c.(1744-1746)gGt>gTt	p.G582V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G582V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	582					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G582V(2)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTCTTTCGGTAATAAGAGG	0.478																																							uc002qmh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1744-1746)GGT>GTT		NLR family, pyrin domain containing 8							50.0	46.0	47.0					19																	56467169		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467169G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1745G>T	19.37:g.56467169G>T	ENSP00000291971:p.Gly582Val					NLRP8_uc010etg.2_Missense_Mutation_p.G582V	p.G582V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1816	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	582					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1745G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.420	0.445678	0.12164	.	.	ENSG00000179709	ENST00000291971	D	0.88664	-2.41	2.03	-0.305	0.12784	.	.	.	.	.	D	0.89203	0.6648	L	0.53249	1.67	0.09310	N	1	P;B	0.50369	0.934;0.006	P;B	0.58013	0.831;0.019	T	0.78937	-0.2007	9	0.33141	T	0.24	.	6.6953	0.23195	0.3026:0.0:0.6974:0.0	.	582;582	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	582	ENSP00000291971:G582V	ENSP00000291971:G582V	G	+	2	0	NLRP8	61158981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.014000	0.12656	-0.281000	0.09141	-1.338000	0.01255	GGT		0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		12	44	1	0	1.08611e-07	0.010729	1.478e-07	12	44				
DRC1	92749	broad.mit.edu	37	2	26667141	26667141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:26667141G>T	ENST00000288710.2	+	9	1154	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	360					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.K360N(2)									AGCAAATAAAGCAGTTTCAGG	0.408																																							uc002rhg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1078-1080)AAG>AAT		hypothetical protein LOC92749							115.0	103.0	107.0					2																	26667141		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26667141G>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1080G>T	2.37:g.26667141G>T	ENSP00000288710:p.Lys360Asn					C2orf39_uc010eym.1_RNA	p.K360N	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			9	1154	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		360			Potential.		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1080G>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727602	0.69074	.	.	ENSG00000157856	ENST00000288710	T	0.18338	2.22	5.39	3.59	0.41128	.	0.205217	0.49916	D	0.000136	T	0.31606	0.0802	M	0.81497	2.545	0.32280	N	0.567719	D	0.54601	0.967	P	0.53861	0.736	T	0.45877	-0.9231	10	0.52906	T	0.07	-27.6041	7.8418	0.29403	0.2546:0.0:0.7454:0.0	.	360	Q96MC2	CC164_HUMAN	N	360	ENSP00000288710:K360N	ENSP00000288710:K360N	K	+	3	2	CCDC164	26520645	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	1.755000	0.38379	0.763000	0.33175	0.650000	0.86243	AAG		0.408	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		11	95	1	0	0.00829132	0.008291	0.00886198	11	95				
LTBP1	4052	broad.mit.edu	37	2	33488394	33488394	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:33488394T>A	ENST00000404816.2	+	15	2905	c.2552T>A	c.(2551-2553)gTt>gAt	p.V851D	LTBP1_ENST00000407925.1_Missense_Mutation_p.V525D|LTBP1_ENST00000404525.1_Missense_Mutation_p.V472D|LTBP1_ENST00000390003.4_Missense_Mutation_p.V526D|LTBP1_ENST00000402934.1_Missense_Mutation_p.V472D|LTBP1_ENST00000354476.3_Missense_Mutation_p.V852D|LTBP1_ENST00000418533.2_Missense_Mutation_p.V525D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	851					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V852D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTGTGCCTGTTGAAGTAGCT	0.403																																							uc002ros.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2554-2556)GTT>GAT		latent transforming growth factor beta binding							144.0	142.0	143.0					2																	33488394		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33488394T>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2552T>A	2.37:g.33488394T>A	ENSP00000386043:p.Val851Asp					LTBP1_uc002rot.2_Missense_Mutation_p.V526D|LTBP1_uc002rou.2_Missense_Mutation_p.V525D|LTBP1_uc002rov.2_Missense_Mutation_p.V472D|LTBP1_uc010ymz.1_Missense_Mutation_p.V525D|LTBP1_uc010yna.1_Missense_Mutation_p.V472D	p.V852D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			15	2555	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	851					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2555T>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012160	0.75046	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.46;-1.41;-1.36;-1.35;-1.33;-1.36;1.6;0.26	5.25	5.25	0.73442	.	.	.	.	.	D	0.85927	0.5811	L	0.46157	1.445	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.93;1.0;1.0;1.0	D;D;P;D;D;D	0.97110	0.999;0.999;0.731;1.0;0.999;1.0	D	0.84947	0.0869	9	0.35671	T	0.21	.	15.1767	0.72916	0.0:0.0:0.0:1.0	.	851;525;472;525;526;852	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	D	851;852;526;525;472;472;525;179;169	ENSP00000386043:V851D;ENSP00000346467:V852D;ENSP00000374653:V526D;ENSP00000393057:V525D;ENSP00000384373:V472D;ENSP00000385359:V472D;ENSP00000384091:V525D;ENSP00000415412:V179D;ENSP00000417591:V169D	ENSP00000346467:V852D	V	+	2	0	LTBP1	33341898	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.833000	0.69349	1.991000	0.58162	0.379000	0.24179	GTT		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		27	203	0	0	0	0.010818	0	27	203				
CCDC88A	55704	broad.mit.edu	37	2	55563913	55563913	+	Silent	SNP	A	A	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:55563913A>G	ENST00000436346.1	-	14	2401	c.1560T>C	c.(1558-1560)agT>agC	p.S520S	AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.S520S|CCDC88A_ENST00000263630.8_Silent_p.S520S|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.S520S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	520					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.S520S(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATTCTGAAGACTTTGCTTTT	0.318																																							uc002ryv.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)	4						c.(1558-1560)AGT>AGC		coiled-coil domain containing 88A isoform 1							61.0	61.0	61.0					2																	55563913		2202	4291	6493	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55563913A>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1560T>C	2.37:g.55563913A>G						CCDC88A_uc010yoz.1_Silent_p.S520S|CCDC88A_uc010ypa.1_Silent_p.S520S|CCDC88A_uc010ypb.1_Silent_p.S422S|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	p.S520S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			14	2402	-			520			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.1560T>C																																																																																					0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		11	66	0	0	0	0.008291	0	11	66				
ALMS1P	200420	broad.mit.edu	37	2	73898278	73898278	+	RNA	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:73898278G>T	ENST00000450720.1	+	0	307					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												ACACAAGCAGGTAATTACTTG	0.353																																							uc010yrl.1		NA																	0					0						c.e2+1		RecName: Full=Putative ALMS1-like protein;																																						200420							g.chr2:73898278G>T	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73898278G>T								NR_003683						2	307	+									Splice_Site	SNP	ENST00000450720.1	37	c.-214_splice																																																																																					0.353	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		23	165	1	0	7.87624e-14	0.016522	1.38622e-13	23	165				
SNRNP200	23020	broad.mit.edu	37	2	96954407	96954407	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:96954407G>A	ENST00000323853.5	-	24	3329	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1084	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.V1084V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGTGTGACATACACCA	0.517																																							uc002svu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|large_intestine(1)	10						c.(3250-3252)GTC>GTT		activating signal cointegrator 1 complex subunit							101.0	86.0	91.0					2																	96954407		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96954407G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3252C>T	2.37:g.96954407G>A						SNRNP200_uc002svw.1_Silent_p.V156V	p.V1084V	NM_014014	NP_054733	O75643	U520_HUMAN			24	3338	-			1084			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.3252C>T	CCDS2020.1																																																																																				0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		12	83	0	0	0	0.016723	0	12	83				
GALNT13	114805	broad.mit.edu	37	2	155306968	155306968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:155306968C>A	ENST00000392825.3	+	13	2143	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	526	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P526T(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCGATGAACCTTCTGAAGA	0.438																																							uc002tyr.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1576-1578)CCT>ACT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							129.0	109.0	116.0					2																	155306968		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155306968C>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1576C>A	2.37:g.155306968C>A	ENSP00000376570:p.Pro526Thr					GALNT13_uc002tyt.3_3'UTR|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron	p.P526T	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			13	2143	+			526			Ricin B-type lectin.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1576C>A	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.411516|2.411516	0.42817|0.42817	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825|ENST00000450838	T|.	0.25912|.	1.77|.	5.82|5.82	4.94|4.94	0.65067|0.65067	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.132626|.	0.51477|.	D|.	0.000093|.	T|T	0.50360|0.50360	0.1611|0.1611	N|N	0.25094|0.25094	0.71|0.71	0.80722|0.80722	D|D	1|1	B|.	0.26547|.	0.152|.	B|.	0.35899|.	0.213|.	T|T	0.45585|0.45585	-0.9251|-0.9251	10|5	0.14252|.	T|.	0.57|.	.|.	13.2606|13.2606	0.60102|0.60102	0.0:0.6953:0.3047:0.0|0.0:0.6953:0.3047:0.0	.|.	526|.	Q8IUC8|.	GLT13_HUMAN|.	T|N	526|111	ENSP00000376570:P526T|.	ENSP00000376570:P526T|.	P|T	+|+	1|2	0|0	GALNT13|GALNT13	155015214|155015214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	6.976000|6.976000	0.76135|0.76135	1.458000|1.458000	0.47871|0.47871	0.650000|0.650000	0.86243|0.86243	CCT|ACC		0.438	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		15	99	1	0	9.16793e-09	0.00499	1.3372e-08	15	99				
SCN3A	6328	broad.mit.edu	37	2	165969467	165969467	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:165969467G>T	ENST00000360093.3	-	21	4262	c.3771C>A	c.(3769-3771)ctC>ctA	p.L1257L	SCN3A_ENST00000283254.7_Silent_p.L1257L|SCN3A_ENST00000409101.3_Silent_p.L1208L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1257L(2)|p.L1208L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAACCCATTTGAGAAGCATTT	0.323																																							uc002ucx.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3769-3771)CTC>CTA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						187.0	206.0	199.0					2																	165969467		2203	4295	6498	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165969467G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3771C>A	2.37:g.165969467G>T						SCN3A_uc002ucy.2_Silent_p.L1208L|SCN3A_uc002ucz.2_Silent_p.L1208L|SCN3A_uc002uda.1_Silent_p.L1077L|SCN3A_uc002udb.1_Silent_p.L1077L	p.L1257L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			21	4263	-			1257			Helical; Name=S2 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.3771C>A																																																																																					0.323	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		72	395	1	0	4.98926e-31	0.01441	1.02903e-30	72	395				
IHH	3549	broad.mit.edu	37	2	219922285	219922285	+	Silent	SNP	G	G	A	rs573679558		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr2:219922285G>A	ENST00000295731.6	-	2	446	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	149					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.R149R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACCGCGCGGCCCTCAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		14438	0.0		0.0	False		,,,				2504	0.001						uc002vjo.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(445-447)CGC>CGT		Indian hedgehog homolog precursor							64.0	54.0	57.0					2																	219922285		2203	4300	6503	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219922285G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.447C>T	2.37:g.219922285G>A							p.R149R	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	447	-		Renal(207;0.0915)	149					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.447C>T	CCDS33380.1																																																																																				0.617	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		7	31	0	0	0	0.001984	0	7	31				
PLCB1	23236	broad.mit.edu	37	20	8862361	8862361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:8862361G>T	ENST00000338037.6	+	32	3543	c.3516G>T	c.(3514-3516)aaG>aaT	p.K1172N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1172					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.K1172N(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAAAGGAAAGATCAGTGAAG	0.517																																							uc002wnb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3514-3516)AAG>AAT		phosphoinositide-specific phospholipase C beta 1							189.0	195.0	193.0					20																	8862361		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862361G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3516G>T	20.37:g.8862361G>T	ENSP00000338185:p.Lys1172Asn					PLCB1_uc002wna.2_3'UTR	p.K1172N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			32	3519	+			1172					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3516G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995570	0.35226	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.41758	0.99	5.77	3.82	0.43975	PLC-beta, C-terminal (1);	0.116625	0.64402	D	0.000019	T	0.48447	0.1500	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.36335	-0.9752	10	0.13853	T	0.58	.	9.67	0.40006	0.2537:0.0:0.7463:0.0	.	1172	Q9NQ66	PLCB1_HUMAN	N	1172;1092	ENSP00000338185:K1172N	ENSP00000338185:K1172N	K	+	3	2	PLCB1	8810361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.305000	0.51873	1.454000	0.47793	0.655000	0.94253	AAG		0.517	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			42	245	1	0	1.00001e-27	0.009718	2.03078e-27	42	245				
LAMP5	24141	broad.mit.edu	37	20	9496207	9496207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9496207C>A	ENST00000246070.2	+	2	664	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	LAMP5_ENST00000427562.2_Missense_Mutation_p.L58I|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	58						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.L58I(2)									GACGACGTGTCTCATGGCAGA	0.463																																							uc002wni.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(172-174)CTC>ATC		chromosome 20 open reading frame 103 precursor							114.0	113.0	113.0					20																	9496207		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9496207C>A	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.172C>A	20.37:g.9496207C>A	ENSP00000246070:p.Leu58Ile					C20orf103_uc010zrc.1_Missense_Mutation_p.L58I	p.L58I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		2	401	+			58			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.172C>A	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627935	0.66901	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.55413	1.19;0.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.57522	-0.7797	9	.	.	.	-17.1801	19.7362	0.96205	0.0:1.0:0.0:0.0	.	58;58	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	I	58	ENSP00000246070:L58I;ENSP00000406360:L58I	.	L	+	1	0	C20orf103	9444207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.611000	0.61162	2.678000	0.91216	0.655000	0.94253	CTC		0.463	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		22	126	1	0	7.41877e-09	0.012319	1.08809e-08	22	126				
PAK7	57144	broad.mit.edu	37	20	9561009	9561009	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:9561009C>A	ENST00000378429.3	-	5	1319	c.773G>T	c.(772-774)gGa>gTa	p.G258V	PAK7_ENST00000353224.5_Missense_Mutation_p.G258V|PAK7_ENST00000378423.1_Missense_Mutation_p.G258V|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	258	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G258V(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGGCTGGGTCCCCATTCACT	0.562																																							uc002wnl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(772-774)GGA>GTA		p21-activated kinase 7							97.0	91.0	93.0					20																	9561009		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561009C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.773G>T	20.37:g.9561009C>A	ENSP00000367686:p.Gly258Val					PAK7_uc002wnk.2_Missense_Mutation_p.G258V|PAK7_uc002wnj.2_Missense_Mutation_p.G258V|PAK7_uc010gby.1_Missense_Mutation_p.G258V	p.G258V	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1318	-			258			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.773G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459441	0.43736	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.31510	1.49;1.49;1.49	5.38	4.43	0.53597	.	0.149610	0.64402	D	0.000010	T	0.26268	0.0641	L	0.47716	1.5	0.80722	D	1	B;P	0.34462	0.28;0.454	B;B	0.34590	0.117;0.186	T	0.04128	-1.0975	9	.	.	.	.	10.1474	0.42771	0.1463:0.6912:0.1626:0.0	.	258;258	B0AZM9;Q9P286	.;PAK7_HUMAN	V	258;258;258;206	ENSP00000367686:G258V;ENSP00000322957:G258V;ENSP00000367679:G258V	.	G	-	2	0	PAK7	9509009	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.355000	0.52262	1.388000	0.46506	0.637000	0.83480	GGA		0.562	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			10	106	1	0	0.00829132	0.008291	0.00886198	10	106				
ANKEF1	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	A	G	rs201360021		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:10030593A>G	ENST00000378380.3	+	6	1705	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.Y459C|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	459							calcium ion binding (GO:0005509)	p.Y459C(2)									ATTGAGACCTACAAGAATGTC	0.463																																							uc002wno.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1375-1377)TAC>TGC		ankyrin repeat domain protein 5							123.0	110.0	115.0					20																	10030593		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10030593A>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1376A>G	20.37:g.10030593A>G	ENSP00000367631:p.Tyr459Cys					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.Y459C|ANKRD5_uc010gbz.2_Missense_Mutation_p.Y270C	p.Y459C	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1769	+			459					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1376A>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428764	0.25726	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.66815	-0.23;-0.23	5.77	4.68	0.58851	Ankyrin repeat-containing domain (1);	0.276824	0.43110	D	0.000608	T	0.57080	0.2029	L	0.53249	1.67	0.33923	D	0.641161	B	0.14012	0.009	B	0.09377	0.004	T	0.61118	-0.7127	10	0.38643	T	0.18	-7.681	6.3739	0.21497	0.7033:0.0:0.0713:0.2255	.	459	Q9NU02	ANKR5_HUMAN	C	459	ENSP00000367644:Y459C;ENSP00000367631:Y459C	ENSP00000367631:Y459C	Y	+	2	0	ANKRD5	9978593	0.949000	0.32298	0.951000	0.38953	0.131000	0.20780	2.176000	0.42500	1.122000	0.41944	0.533000	0.62120	TAC		0.463	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		21	155	0	0	0	0.008871	0	21	155				
PAX1	5075	broad.mit.edu	37	20	21695369	21695369	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:21695369C>A	ENST00000398485.2	+	5	1587	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	511					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P417P(1)|p.P511P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGGCCCAGCCCTGCCTCTGGC	0.652																																							uc002wsj.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(1531-1533)CCC>CCA		paired box 1							46.0	43.0	44.0					20																	21695369		2203	4300	6503	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21695369C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1533C>A	20.37:g.21695369C>A						PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	p.P511P	NM_006192	NP_006183	P15863	PAX1_HUMAN			5	1587	+			511					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1533C>A	CCDS13146.2																																																																																				0.652	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	30	1	0	0.000602214	0.014758	0.000679421	5	30				
EDEM2	55741	broad.mit.edu	37	20	33714148	33714148	+	Missense_Mutation	SNP	C	C	A	rs148170838	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:33714148C>A	ENST00000374492.3	-	8	980	c.875G>T	c.(874-876)cGc>cTc	p.R292L	EDEM2_ENST00000542871.1_Missense_Mutation_p.R16L|EDEM2_ENST00000540582.1_Missense_Mutation_p.R251L|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71L|EDEM2_ENST00000374491.3_Missense_Mutation_p.R255L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R292L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCATCGAAGCGGGTGTAGTT	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(874-876)CGC>CTC		ER degradation enhancer, mannosidase alpha-like							169.0	150.0	156.0					20																	33714148		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33714148C>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.875G>T	20.37:g.33714148C>A	ENSP00000363616:p.Arg292Leu					EDEM2_uc010zuv.1_Missense_Mutation_p.R251L|EDEM2_uc010zus.1_Missense_Mutation_p.R71L|EDEM2_uc002xbq.2_Missense_Mutation_p.R255L|EDEM2_uc010zut.1_Missense_Mutation_p.R251L|EDEM2_uc002xbp.2_Missense_Mutation_p.R140L|EDEM2_uc002xbn.2_Missense_Mutation_p.R140L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.R16L	p.R292L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		8	975	-			292					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.875G>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992010	0.54041	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.18	3.1	0.35709	.	0.291012	0.34200	N	0.004178	T	0.47783	0.1464	N	0.21448	0.665	0.38978	D	0.958882	B;B;B;B	0.19200	0.034;0.011;0.023;0.011	B;B;B;B	0.27076	0.047;0.076;0.019;0.033	T	0.49447	-0.8939	10	0.72032	D	0.01	-8.706	2.5452	0.04736	0.2137:0.4521:0.0:0.3342	.	251;71;255;292	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	L	255;292;71;16;251	ENSP00000363615:R255L;ENSP00000363616:R292L;ENSP00000443528:R71L;ENSP00000441642:R16L;ENSP00000441548:R251L	ENSP00000363615:R255L	R	-	2	0	EDEM2	33177809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.114000	0.50383	1.150000	0.42419	0.563000	0.77884	CGC		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		19	116	1	0	8.10497e-08	0.010504	1.13815e-07	19	116				
PHACTR3	116154	broad.mit.edu	37	20	58342383	58342384	+	Missense_Mutation	DNP	CC	CC	AA	rs371764829		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:58342383_58342384CC>AA	ENST00000371015.1	+	5	1151_1152	c.684_685CC>AA	c.(682-687)ctCCcc>ctAAcc	p.P229T	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P226T|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P188T|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P188T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P188T|PHACTR3_ENST00000395639.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	229	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGGCCAGCTCCCCAGCCCCCC	0.609																																							uc002yau.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(682-687)CTCCCC>CTAACC		phosphatase and actin regulator 3 isoform 1																																				SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342383_58342384CC>AA	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	Exception_encountered	20.37:g.58342383_58342384delinsAA	ENSP00000360054:p.Pro229Thr					PHACTR3_uc002yat.2_Missense_Mutation_p.P226T|PHACTR3_uc010zzw.1_Missense_Mutation_p.P188T|PHACTR3_uc002yav.2_Missense_Mutation_p.P188T|PHACTR3_uc002yaw.2_Missense_Mutation_p.P188T|PHACTR3_uc002yax.2_Intron	p.P229T	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1151_1152	+	all_lung(29;0.00344)		229			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	DNP	ENST00000371015.1	37	c.684_685CC>AA	CCDS13480.1																																																																																				0.609	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	38	0	0	0	0.004672	0	9	38				
TAF4	6874	broad.mit.edu	37	20	60575248	60575248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:60575248G>A	ENST00000252996.4	-	11	2718	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	907					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q907*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGCCTTTGTTGCGTGGCATGT	0.373																																							uc002ybs.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2719-2721)CAA>TAA		TBP-associated factor 4							144.0	134.0	138.0					20																	60575248		2203	4300	6503	SO:0001587	stop_gained	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575248G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2719C>T	20.37:g.60575248G>A	ENSP00000252996:p.Gln907*						p.Q907*	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2719	-	Breast(26;1e-08)		907					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Nonsense_Mutation	SNP	ENST00000252996.4	37	c.2719C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	39	7.841515	0.98519	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.1627	17.6539	0.88172	0.0:0.0:1.0:0.0	.	.	.	.	X	907;771	.	ENSP00000252996:Q907X	Q	-	1	0	TAF4	60008643	1.000000	0.71417	0.882000	0.34594	0.986000	0.74619	7.142000	0.77339	2.152000	0.67230	0.561000	0.74099	CAA		0.373	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		19	113	0	0	0	0.008871	0	19	113				
RBBP8NL	140893	broad.mit.edu	37	20	60990964	60990964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:60990964C>T	ENST00000252998.1	-	7	580	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	142						extracellular space (GO:0005615)		p.D142N(1)									GAGGGGGGGTCCGAGGTGCCC	0.662																																							uc002ycw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAC>AAC		hypothetical protein LOC140893							8.0	8.0	8.0					20																	60990964		2181	4249	6430	SO:0001583	missense	140893							g.chr20:60990964C>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.424G>A	20.37:g.60990964C>T	ENSP00000252998:p.Asp142Asn						p.D142N	NM_080833	NP_543023	Q8NC74	CT151_HUMAN	BRCA - Breast invasive adenocarcinoma(19;6.43e-06)		7	581	-	Breast(26;2.05e-08)		142					B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	c.424G>A	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396764	0.25205	.	.	ENSG00000130701	ENST00000252998	T	0.17854	2.25	3.96	3.01	0.34805	.	1.232240	0.05716	N	0.596752	T	0.13543	0.0328	L	0.39898	1.24	0.09310	N	1	P	0.40970	0.734	B	0.37198	0.243	T	0.13442	-1.0509	10	0.23302	T	0.38	-7.8291	5.4468	0.16539	0.0:0.7944:0.0:0.2056	.	142	Q8NC74	CT151_HUMAN	N	142	ENSP00000252998:D142N	ENSP00000252998:D142N	D	-	1	0	C20orf151	60424359	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	0.197000	0.17197	2.221000	0.72209	0.555000	0.69702	GAC		0.662	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		3	10	0	0	0	0.004672	0	3	10				
SEZ6L	23544	broad.mit.edu	37	22	26690378	26690378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26690378G>T	ENST00000248933.6	+	3	1051	c.956G>T	c.(955-957)gGg>gTg	p.G319V	SEZ6L_ENST00000343706.4_Missense_Mutation_p.G319V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G319V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G319V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G92V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G92V			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	319	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G319V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTGGCTATGGGGTGGAGCTC	0.537																																							uc003acb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(955-957)GGG>GTG		seizure related 6 homolog (mouse)-like							95.0	83.0	87.0					22																	26690378		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26690378G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.956G>T	22.37:g.26690378G>T	ENSP00000248933:p.Gly319Val					SEZ6L_uc003acc.2_Missense_Mutation_p.G319V|SEZ6L_uc011akc.1_Missense_Mutation_p.G319V|SEZ6L_uc003acd.2_Missense_Mutation_p.G319V|SEZ6L_uc011akd.1_Missense_Mutation_p.G319V|SEZ6L_uc003ace.2_Missense_Mutation_p.G319V|SEZ6L_uc003acf.1_Missense_Mutation_p.G92V|SEZ6L_uc010gvc.1_Missense_Mutation_p.G92V	p.G319V	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			3	1112	+			319			CUB 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.956G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650185	0.67472	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.3	4.27	0.50696	CUB (5);	0.000000	0.56097	D	0.000040	T	0.42877	0.1222	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.42241	-0.9463	10	0.54805	T	0.06	.	14.4109	0.67115	0.0:0.0:0.8513:0.1487	.	319;319;92;319;319;319;319	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	V	319;319;319;319;319;92;92	ENSP00000384772:G319V;ENSP00000437037:G319V;ENSP00000354185:G319V;ENSP00000248933:G319V;ENSP00000342661:G319V;ENSP00000384838:G92V;ENSP00000384733:G92V	ENSP00000248933:G319V	G	+	2	0	SEZ6L	25020378	1.000000	0.71417	0.804000	0.32291	0.776000	0.43924	9.243000	0.95416	1.211000	0.43351	0.591000	0.81541	GGG		0.537	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			19	115	1	0	1.45105e-14	0.006122	2.58836e-14	19	115				
SEZ6L	23544	broad.mit.edu	37	22	26769422	26769422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:26769422C>T	ENST00000248933.6	+	14	2895	c.2800C>T	c.(2800-2802)Caa>Taa	p.Q934*	SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.Q934*|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Q707*			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	934					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.Q934*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTTAATCAAGACAGTTT	0.353																																							uc003acb.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2800-2802)CAA>TAA		seizure related 6 homolog (mouse)-like							132.0	123.0	126.0					22																	26769422		2202	4299	6501	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26769422C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2800C>T	22.37:g.26769422C>T	ENSP00000248933:p.Gln934*					SEZ6L_uc003acc.2_Nonsense_Mutation_p.Q934*|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Nonsense_Mutation_p.Q707*|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_Intron	p.Q934*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			14	2956	+			934			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.2800C>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	41	9.010916	0.99035	.	.	ENSG00000100095	ENST00000404234;ENST00000248933;ENST00000402979	.	.	.	5.4	5.4	0.78164	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	16.2687	0.82603	0.0:1.0:0.0:0.0	.	.	.	.	X	934;934;707	.	ENSP00000248933:Q934X	Q	+	1	0	SEZ6L	25099422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.638000	0.61353	2.705000	0.92388	0.650000	0.86243	CAA		0.353	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	82	0	0	0	0.00308	0	7	82				
EFCAB6	64800	broad.mit.edu	37	22	44028081	44028081	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:44028081C>T	ENST00000262726.7	-	19	2389	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	EFCAB6_ENST00000396231.2_Silent_p.Q560Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q712Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTTGGAGGCTGCGGCGGAG	0.483																																							uc003bdy.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(2134-2136)CAG>CAA		CAP-binding protein complex interacting protein							105.0	110.0	108.0					22																	44028081		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44028081C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2136G>A	22.37:g.44028081C>T						EFCAB6_uc003bdz.1_Silent_p.Q560Q|EFCAB6_uc010gzi.1_Silent_p.Q560Q|EFCAB6_uc010gzj.1_Silent_p.Q10Q|EFCAB6_uc010gzk.1_RNA	p.Q712Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			19	2351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	712					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.2136G>A	CCDS14049.1																																																																																				0.483	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	101	0	0	0	0.013537	0	13	101				
WNT7B	7477	broad.mit.edu	37	22	46319087	46319087	+	Missense_Mutation	SNP	G	G	C	rs374174469		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr22:46319087G>C	ENST00000339464.4	-	4	1073	c.699C>G	c.(697-699)aaC>aaG	p.N233K	WNT7B_ENST00000410089.1_Missense_Mutation_p.N217K|WNT7B_ENST00000409496.3_Missense_Mutation_p.N237K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	233					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.N233K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCACGGCCGCGTTGTACTTCT	0.642																																							uc003bgo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(697-699)AAC>AAG		wingless-type MMTV integration site family,							42.0	42.0	42.0					22																	46319087		2203	4300	6503	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46319087G>C	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.699C>G	22.37:g.46319087G>C	ENSP00000341032:p.Asn233Lys					WNT7B_uc010haa.2_Missense_Mutation_p.N237K	p.N233K	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	4	1073	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	233					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.699C>G	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085449	0.36758	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	T;T;T	0.74947	-0.89;-0.89;-0.89	3.65	2.55	0.30701	.	0.000000	0.85682	U	0.000000	T	0.57388	0.2050	L	0.35288	1.05	0.80722	D	1	B;B	0.20988	0.016;0.05	B;B	0.19666	0.026;0.026	T	0.57562	-0.7790	10	0.54805	T	0.06	.	3.1464	0.06473	0.2255:0.0:0.5517:0.2228	.	237;233	A8K0G1;P56706	.;WNT7B_HUMAN	K	233;217;237	ENSP00000341032:N233K;ENSP00000386781:N217K;ENSP00000386546:N237K	ENSP00000341032:N233K	N	-	3	2	WNT7B	44697751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.952000	0.49097	1.584000	0.49913	0.484000	0.47621	AAC		0.642	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		4	28	0	0	0	0.006214	0	4	28				
NUP210	23225	broad.mit.edu	37	3	13427851	13427851	+	Silent	SNP	C	C	A	rs544935480		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:13427851C>A	ENST00000254508.5	-	6	823	c.741G>T	c.(739-741)ccG>ccT	p.P247P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	247					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P247P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGTCATAGGCCGGGTTCAGAA	0.493																																							uc003bxv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(739-741)CCG>CCT		nucleoporin 210 precursor							193.0	173.0	179.0					3																	13427851		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13427851C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.741G>T	3.37:g.13427851C>A							p.P247P	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			6	824	-	all_neural(104;0.187)		247			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.741G>T	CCDS33704.1																																																																																				0.493	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		25	157	1	0	3.7963e-18	0.01892	7.21025e-18	25	157				
ARPP21	10777	broad.mit.edu	37	3	35835224	35835224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:35835224C>A	ENST00000187397.4	+	20	2669	c.2213C>A	c.(2212-2214)cCc>cAc	p.P738H	ARPP21_ENST00000458225.1_Missense_Mutation_p.P739H|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.P719H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P739H|ARPP21_ENST00000337271.5_Missense_Mutation_p.P719H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	738	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.P738H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAAGGACTGCCCCAGCAGTCA	0.488																																							uc003cgb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2212-2214)CCC>CAC		cyclic AMP-regulated phosphoprotein, 21 kD							90.0	88.0	89.0					3																	35835224		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835224C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2213C>A	3.37:g.35835224C>A	ENSP00000187397:p.Pro738His					ARPP21_uc003cga.2_Missense_Mutation_p.P719H|ARPP21_uc011axy.1_Missense_Mutation_p.P739H|ARPP21_uc003cgf.2_Missense_Mutation_p.P574H|ARPP21_uc003cgg.2_Missense_Mutation_p.P261H	p.P738H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			20	2477	+			738			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2213C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167793	0.78339	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.27402	1.71;1.67;1.67;1.82;1.71	6.03	6.03	0.97812	.	0.084489	0.51477	D	0.000081	T	0.54191	0.1843	M	0.63843	1.955	0.42114	D	0.991392	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;P;D	0.72075	0.94;0.976;0.861;0.971	T	0.31641	-0.9936	10	0.23891	T	0.37	-15.7074	20.5666	0.99351	0.0:1.0:0.0:0.0	.	739;261;738;719	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	739;719;719;738;739	ENSP00000414351:P739H;ENSP00000337792:P719H;ENSP00000405276:P719H;ENSP00000187397:P738H;ENSP00000412326:P739H	ENSP00000187397:P738H	P	+	2	0	ARPP21	35810228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.252000	0.72447	2.854000	0.98071	0.655000	0.94253	CCC		0.488	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	67	1	0	1.12685e-05	0.004482	1.39013e-05	9	67				
HHATL	57467	broad.mit.edu	37	3	42739015	42739015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:42739015G>T	ENST00000441594.1	-	7	1111	c.850C>A	c.(850-852)Cca>Aca	p.P284T	HHATL_ENST00000310417.5_Missense_Mutation_p.P284T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	284					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.P284T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCACTGTCTGGGAGGCGGTTG	0.617																																							uc003clw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(850-852)CCA>ACA		hedgehog acyltransferase-like							94.0	96.0	96.0					3																	42739015		2203	4300	6503	SO:0001583	missense	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739015G>T	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.850C>A	3.37:g.42739015G>T	ENSP00000405423:p.Pro284Thr					HHATL_uc003clx.2_Missense_Mutation_p.P284T	p.P284T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	8	997	-			284					Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	c.850C>A	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	g	1.090	-0.664418	0.03428	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000457462	T;T;T	0.71817	-0.6;-0.6;1.53	4.64	1.34	0.21922	.	0.226605	0.47093	N	0.000249	T	0.46014	0.1371	N	0.19112	0.55	0.38668	D	0.952235	B	0.09022	0.002	B	0.12156	0.007	T	0.15780	-1.0425	10	0.23891	T	0.37	-3.1253	2.1786	0.03868	0.4423:0.0:0.3202:0.2374	.	284	Q9HCP6	HHATL_HUMAN	T	284;284;219	ENSP00000310621:P284T;ENSP00000405423:P284T;ENSP00000403787:P219T	ENSP00000310621:P284T	P	-	1	0	HHATL	42714019	1.000000	0.71417	0.996000	0.52242	0.077000	0.17291	2.700000	0.47085	0.482000	0.27582	0.552000	0.68991	CCA		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		11	103	1	0	1.67942e-08	0.006122	2.4096e-08	11	103				
KIF9	64147	broad.mit.edu	37	3	47288896	47288896	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:47288896C>T	ENST00000265529.3	-	13	1880	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	KIF9_ENST00000335044.2_Silent_p.R400R|KIF9_ENST00000444589.2_Silent_p.R400R|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Silent_p.R307R|KIF9_ENST00000452770.2_Silent_p.R400R|KIF9-AS1_ENST00000429315.3_RNA			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	400					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.R400R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGTACCTCCGCACCTGGG	0.557																																					Colon(44;962 1147 15977 24541)	Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1198-1200)CGG>CGA		kinesin family member 9 isoform 2							166.0	158.0	161.0					3																	47288896		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47288896C>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1200G>A	3.37:g.47288896C>T						KIF9_uc003cqx.2_Silent_p.R400R|KIF9_uc003cqy.2_Silent_p.R400R|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	p.R400R	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	13	1804	-		Acute lymphoblastic leukemia(5;0.164)	400					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.1200G>A	CCDS2752.1																																																																																				0.557	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			14	121	0	0	0	0.003163	0	14	121				
PLXNB1	5364	broad.mit.edu	37	3	48457786	48457786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:48457786C>A	ENST00000358536.4	-	17	3718	c.3449G>T	c.(3448-3450)cGt>cTt	p.R1150L	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R967L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1150L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R967L|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1150	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.R1150L(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGAGACACCACGTCCTCTTCC	0.667																																							uc003csw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3448-3450)CGT>CTT		plexin B1 precursor							81.0	60.0	67.0					3																	48457786		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48457786C>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3449G>T	3.37:g.48457786C>A	ENSP00000351338:p.Arg1150Leu					PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R967L|PLXNB1_uc003csx.2_Missense_Mutation_p.R1150L|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'UTR	p.R1150L	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	17	3719	-			1150			IPT/TIG 1.|Extracellular (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3449G>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	1.110	-0.658418	0.03454	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.3	-0.479	0.12089	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.548280	0.03443	N	0.209544	T	0.56262	0.1973	N	0.17345	0.48	0.24143	N	0.99572	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.004	T	0.36237	-0.9756	10	0.13108	T	0.6	.	6.3634	0.21441	0.0:0.4285:0.1284:0.4432	.	1150;967	O43157;O43157-2	PLXB1_HUMAN;.	L	1150;967;1150;967	ENSP00000296440:R1150L;ENSP00000351242:R967L;ENSP00000351338:R1150L;ENSP00000414199:R967L	ENSP00000296440:R1150L	R	-	2	0	PLXNB1	48432790	0.116000	0.22171	0.125000	0.21846	0.133000	0.20885	0.410000	0.21098	-0.008000	0.14320	0.306000	0.20318	CGT		0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		12	60	1	0	1.5842e-08	0.016723	2.29796e-08	12	60				
PHF7	51533	broad.mit.edu	37	3	52455671	52455671	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:52455671C>T	ENST00000327906.3	+	8	1241	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PHF7_ENST00000347025.2_Missense_Mutation_p.A194V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	194						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CAGAAATATGCCCACACATCA	0.423																																							uc003ddy.2		NA																	0				breast(1)	1						c.(580-582)GCC>GTC		PHD finger protein 7 isoform 1							89.0	85.0	86.0					3																	52455671		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52455671C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.581C>T	3.37:g.52455671C>T	ENSP00000333024:p.Ala194Val					PHF7_uc003ddz.2_Missense_Mutation_p.A194V	p.A194V	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	8	1387	+			194			RING-type; degenerate.		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.581C>T	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.784267|4.784267	0.90282|0.90282	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000454052;ENST00000461861;ENST00000465863	D;D;T|.	0.93426|.	-3.22;-3.22;0.95|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Zinc finger, RING-type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80834|0.80834	0.4699|0.4699	M|M	0.87269|0.87269	2.87|2.87	0.45837|0.45837	D|D	0.998701|0.998701	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.80764|.	0.994;0.985|.	D|D	0.83371|0.83371	0.0007|0.0007	10|6	0.40728|0.87932	T|D	0.16|0	-8.7956|-8.7956	16.1087|16.1087	0.81244|0.81244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;194|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	V|S	194;194;194;102|159;154;27	ENSP00000419316:A194V;ENSP00000333024:A194V;ENSP00000246282:A194V|.	ENSP00000333024:A194V|ENSP00000399257:P159S	A|P	+|+	2|1	0|0	PHF7|PHF7	52430711|52430711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.281000|4.281000	0.58965|0.58965	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.423	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		4	99	0	0	0	0.009096	0	4	99				
FLNB	2317	broad.mit.edu	37	3	58110122	58110122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:58110122G>T	ENST00000295956.4	+	22	3953	c.3788G>T	c.(3787-3789)gGt>gTt	p.G1263V	FLNB_ENST00000348383.5_Missense_Mutation_p.G1263V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1263V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1263V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1094V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1094V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1263V|FLNB_ENST00000357272.4_Missense_Mutation_p.G1263V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1263	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G1263V(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGGTTGGGGGTGACCACATC	0.572																																							uc003djj.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(3787-3789)GGT>GTT		filamin B isoform 2							89.0	84.0	86.0					3																	58110122		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58110122G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3788G>T	3.37:g.58110122G>T	ENSP00000295956:p.Gly1263Val					FLNB_uc010hne.2_Missense_Mutation_p.G1263V|FLNB_uc003djk.2_Missense_Mutation_p.G1263V|FLNB_uc010hnf.2_Missense_Mutation_p.G1263V|FLNB_uc003djl.2_Missense_Mutation_p.G1094V|FLNB_uc003djm.2_Missense_Mutation_p.G1094V	p.G1263V	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	22	3953	+			1263			Filamin 11.|Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3788G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178707	0.94846	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.998;1.0;1.0	D	0.92259	0.5815	10	0.87932	D	0	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1263;1263;1094;1094;1263;1263	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1263;1263;1263;1263;1263;1263;1094;1094	ENSP00000295956:G1263V;ENSP00000420213:G1263V;ENSP00000351339:G1263V;ENSP00000415599:G1263V;ENSP00000232447:G1263V;ENSP00000349819:G1263V;ENSP00000418510:G1094V;ENSP00000414532:G1094V	ENSP00000295956:G1263V	G	+	2	0	FLNB	58085162	1.000000	0.71417	0.926000	0.36857	0.980000	0.70556	9.476000	0.97823	2.696000	0.92011	0.655000	0.94253	GGT		0.572	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		19	84	1	0	5.3912e-06	0.006122	6.71357e-06	19	84				
BOC	91653	broad.mit.edu	37	3	112993283	112993283	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:112993283C>A	ENST00000495514.1	+	9	2000	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	BOC_ENST00000273395.4_Silent_p.P432P|BOC_ENST00000355385.3_Silent_p.P432P			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	432					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P432P(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGTATCACCCTCCAAACTCG	0.607																																							uc003dzx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(1294-1296)CCC>CCA		brother of CDO precursor							69.0	61.0	64.0					3																	112993283		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993283C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1296C>A	3.37:g.112993283C>A						BOC_uc003dzy.2_Silent_p.P432P|BOC_uc003dzz.2_Silent_p.P432P|BOC_uc003eab.2_Silent_p.P133P	p.P432P	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	1917	+			432			Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.1296C>A	CCDS2971.1																																																																																				0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		7	75	1	0	1.06961e-07	0.00308	1.478e-07	7	75				
POLQ	10721	broad.mit.edu	37	3	121207151	121207151	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:121207151C>G	ENST00000264233.5	-	16	4755	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1543					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.D1678H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGTGGGTATCTTGATTCTCA	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4627-4629)GAT>CAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							43.0	43.0	43.0					3																	121207151		2202	4291	6493	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207151C>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4627G>C	3.37:g.121207151C>G	ENSP00000264233:p.Asp1543His					POLQ_uc003eed.2_Missense_Mutation_p.D715H	p.D1543H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4756	-			1543					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4627G>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	3.671	-0.067454	0.07273	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50001	0.76	6.04	4.26	0.50523	.	0.697545	0.14806	N	0.297341	T	0.36082	0.0954	L	0.27053	0.805	0.09310	N	1	P;P	0.46395	0.877;0.846	B;B	0.42386	0.293;0.386	T	0.09037	-1.0693	10	0.44086	T	0.13	.	9.5538	0.39326	0.0:0.7724:0.0:0.2276	.	1543;715	O75417;O75417-2	DPOLQ_HUMAN;.	H	1166;1543;1679	ENSP00000264233:D1543H	ENSP00000264233:D1543H	D	-	1	0	POLQ	122689841	0.010000	0.17322	0.004000	0.12327	0.018000	0.09664	1.526000	0.35964	0.896000	0.36366	0.561000	0.74099	GAT		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	130	0	0	0	0.014758	0	5	130				
CASR	846	broad.mit.edu	37	3	122002991	122002991	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:122002991C>A	ENST00000490131.1	+	7	2562	c.2190C>A	c.(2188-2190)ctC>ctA	p.L730L	CASR_ENST00000498619.1_Silent_p.L740L|CASR_ENST00000296154.5_Silent_p.L730L|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	730					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTTTTCCTCTGCACCTTCA	0.557																																							uc003eev.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2188-2190)CTC>CTA		calcium-sensing receptor precursor	Cinacalcet(DB01012)						57.0	52.0	54.0					3																	122002991		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002991C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2190C>A	3.37:g.122002991C>A						CASR_uc003eew.3_Silent_p.L740L	p.L730L	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2562	+			730			Helical; Name=4; (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2190C>A	CCDS3010.1																																																																																				0.557	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		8	61	1	0	0.00307968	0.00308	0.00335965	8	61				
COL6A6	131873	broad.mit.edu	37	3	130285781	130285781	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130285781C>A	ENST00000358511.6	+	4	1549	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	COL6A6_ENST00000453409.2_Silent_p.I506I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	506	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I506I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGAGAATATCAGGCAGATGG	0.473																																							uc010htl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1516-1518)ATC>ATA		collagen type VI alpha 6 precursor							90.0	92.0	91.0					3																	130285781		1908	4130	6038	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130285781C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1518C>A	3.37:g.130285781C>A							p.I506I	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1549	+			506			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.1518C>A	CCDS46911.1																																																																																				0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		24	104	1	0	2.89027e-11	0.014323	4.76894e-11	24	104				
NEK11	79858	broad.mit.edu	37	3	130881250	130881250	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:130881250A>T	ENST00000510769.1	+	7	900		c.e7-1		NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000383366.4_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000508196.1_Splice_Site|NEK11_ENST00000356918.4_Splice_Site					NIMA-related kinase 11									p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTTATTTATAGGCAAAAAAG	0.413																																							uc003eny.2		NA																	2	Unknown(2)		lung(2)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.e11-2		NIMA-related kinase 11 isoform 1							145.0	169.0	161.0					3																	130881250		2203	4300	6503	SO:0001630	splice_region_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881250A>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.648-1A>T	3.37:g.130881250A>T						NEK11_uc003enx.2_Splice_Site_p.M321_splice|NEK11_uc003eoa.2_Splice_Site_p.M321_splice|NEK11_uc003enz.2_Splice_Site_p.M139_splice|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Splice_Site_p.M173_splice|NEK11_uc011bll.1_Splice_Site_p.W216_splice|NEK11_uc011blm.1_Splice_Site_p.M321_splice	p.M321_splice	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			11	1289	+									Splice_Site	SNP	ENST00000510769.1	37	c.963_splice		.	.	.	.	.	.	.	.	.	.	A	19.21	3.783542	0.70222	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK11	132363940	1.000000	0.71417	0.984000	0.44739	0.926000	0.56050	7.978000	0.88095	2.053000	0.61076	0.397000	0.26171	.		0.413	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800	Intron	63	359	0	0	0	0.01441	0	63	359				
GK5	256356	broad.mit.edu	37	3	141900397	141900397	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:141900397T>C	ENST00000392993.2	-	11	1105	c.954A>G	c.(952-954)ccA>ccG	p.P318P		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	318					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.P318P(2)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						ACCCAATTAATGGATAAAAGC	0.363																																							uc003euq.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(952-954)CCA>CCG		glycerol kinase 5 (putative)							93.0	91.0	91.0					3																	141900397		2203	4300	6503	SO:0001819	synonymous_variant	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141900397T>C	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.954A>G	3.37:g.141900397T>C						GK5_uc003eup.1_Silent_p.P39P|GK5_uc010hus.1_RNA	p.P318P	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN			11	1085	-			318					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	ENST00000392993.2	37	c.954A>G	CCDS33871.1																																																																																				0.363	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		12	89	0	0	0	0.010729	0	12	89				
SLC9A9	285195	broad.mit.edu	37	3	142985602	142985602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:142985602C>A	ENST00000316549.6	-	16	2088	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G627V(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCTCCCAGGCCGAGGTCTCC	0.498																																							uc003evn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1879-1881)GGC>GTC		solute carrier family 9 (sodium/hydrogen							126.0	118.0	121.0					3																	142985602		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985602C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1880G>T	3.37:g.142985602C>A	ENSP00000320246:p.Gly627Val						p.G627V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	2062	-			627					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1880G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421316	0.83559	.	.	ENSG00000181804	ENST00000316549	T	0.58940	0.3	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77882	-0.2422	10	0.66056	D	0.02	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	627	Q8IVB4	SL9A9_HUMAN	V	627	ENSP00000320246:G627V	ENSP00000320246:G627V	G	-	2	0	SLC9A9	144468292	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	3.750000	0.55157	2.679000	0.91253	0.650000	0.86243	GGC		0.498	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		25	127	1	0	9.04412e-07	0.004656	1.15905e-06	25	127				
SERPINI2	5276	broad.mit.edu	37	3	167164213	167164213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:167164213G>T	ENST00000476257.1	-	9	1406	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T	SERPINI2_ENST00000264677.4_Missense_Mutation_p.P370T|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P370T|SERPINI2_ENST00000471111.1_Missense_Mutation_p.P370T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	370					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P370T(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AACAGAAATGGATGATTTGCT	0.333																																							uc003fer.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|urinary_tract(1)	3						c.(1108-1110)CCA>ACA		serpin peptidase inhibitor, clade I (pancpin),							111.0	122.0	118.0					3																	167164213		2203	4298	6501	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167164213G>T	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1108C>A	3.37:g.167164213G>T	ENSP00000420621:p.Pro370Thr					SERPINI2_uc003fes.1_Missense_Mutation_p.P380T|SERPINI2_uc003fet.1_Missense_Mutation_p.P370T	p.P370T	NM_006217	NP_006208	O75830	SPI2_HUMAN			7	1166	-			370						Missense_Mutation	SNP	ENST00000476257.1	37	c.1108C>A	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071967	0.36566	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.61	4.74	0.60224	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	M	0.94021	3.485	0.43133	D	0.994873	D;D	0.63046	0.992;0.992	P;P	0.62649	0.905;0.905	D	0.98162	1.0447	10	0.87932	D	0	.	12.2753	0.54730	0.0825:0.0:0.9175:0.0	.	370;370	B4DDY9;O75830	.;SPI2_HUMAN	T	370	ENSP00000420621:P370T;ENSP00000417692:P370T;ENSP00000264677:P370T;ENSP00000419407:P370T	ENSP00000264677:P370T	P	-	1	0	SERPINI2	168646907	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	5.603000	0.67619	1.368000	0.46115	-0.142000	0.14014	CCA		0.333	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		18	182	1	0	3.32936e-07	0.006122	4.41684e-07	18	182				
MECOM	2122	broad.mit.edu	37	3	168812877	168812877	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:168812877A>T	ENST00000464456.1	-	11	3615	c.2415T>A	c.(2413-2415)aaT>aaA	p.N805K	MECOM_ENST00000460814.1_Missense_Mutation_p.N805K|MECOM_ENST00000472280.1_Missense_Mutation_p.N815K|MECOM_ENST00000494292.1_Missense_Mutation_p.N993K|MECOM_ENST00000468789.1_Missense_Mutation_p.N814K|MECOM_ENST00000433243.2_Missense_Mutation_p.N815K|MECOM_ENST00000392736.3_Missense_Mutation_p.N814K|MECOM_ENST00000264674.3_Missense_Mutation_p.N879K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATGTTCCCATTCTCATGTT	0.323																																							uc003ffi.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2440-2442)AAT>AAA		MDS1 and EVI1 complex locus isoform b							182.0	160.0	167.0					3																	168812877		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168812877A>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2415T>A	3.37:g.168812877A>T	ENSP00000419770:p.Asn805Lys					MECOM_uc010hwk.1_Missense_Mutation_p.N828K|MECOM_uc003ffj.3_Missense_Mutation_p.N879K|MECOM_uc011bpi.1_Missense_Mutation_p.N806K|MECOM_uc003ffn.3_Missense_Mutation_p.N814K|MECOM_uc003ffk.2_Missense_Mutation_p.N805K|MECOM_uc003ffl.2_Missense_Mutation_p.N965K|MECOM_uc011bpj.1_Missense_Mutation_p.N1002K|MECOM_uc011bpk.1_Missense_Mutation_p.N804K	p.N814K	NM_005241	NP_005232	Q03112	EVI1_HUMAN			12	2711	-			814					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2442T>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180411	0.38511	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.78	0.789	0.18607	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000053	T	0.11623	0.0283	N	0.19112	0.55	0.58432	D	0.999998	B;B;B;B;B	0.34329	0.228;0.449;0.078;0.449;0.078	B;B;B;B;B	0.42245	0.171;0.381;0.082;0.381;0.12	T	0.13255	-1.0516	10	0.59425	D	0.04	-8.9967	11.0429	0.47842	0.5997:0.0:0.4003:0.0	.	1002;806;993;879;814	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	879;814;805;815;993;814;805;815	ENSP00000264674:N879K;ENSP00000376493:N814K;ENSP00000419770:N805K;ENSP00000420048:N815K;ENSP00000417899:N993K;ENSP00000419995:N814K;ENSP00000420466:N805K;ENSP00000394302:N815K	ENSP00000264674:N879K	N	-	3	2	MECOM	170295571	0.878000	0.30173	0.998000	0.56505	0.761000	0.43186	0.116000	0.15561	-0.074000	0.12820	-0.256000	0.11100	AAT		0.323	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	88	0	0	0	0.016723	0	12	88				
BEND4	389206	broad.mit.edu	37	4	42127651	42127651	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:42127651C>T	ENST00000502486.1	-	4	1674	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	BEND4_ENST00000504360.1_Silent_p.L361L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	365								p.L361L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTGGTGCTGCAGAACCATCT	0.443																																							uc003gwn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1093-1095)CTG>CTA		BEN domain containing 4 isoform a							136.0	139.0	138.0					4																	42127651		1943	4143	6086	SO:0001819	synonymous_variant	389206							g.chr4:42127651C>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1095G>A	4.37:g.42127651C>T						BEND4_uc003gwm.2_Silent_p.L365L|BEND4_uc011byy.1_Silent_p.L365L	p.L365L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			4	1675	-			365					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.1095G>A	CCDS47048.1																																																																																				0.443	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		5	31	0	0	0	0.014758	0	5	31				
CSN2	1447	broad.mit.edu	37	4	70823356	70823356	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:70823356G>C	ENST00000353151.3	-	5	322	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.A104G(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGTGTCTTTAGCTTTAGGGAC	0.463																																							uc003hes.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(310-312)GCT>GGT		casein beta precursor							128.0	122.0	124.0					4																	70823356		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823356G>C	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.311C>G	4.37:g.70823356G>C	ENSP00000341030:p.Ala104Gly					CSN2_uc003het.3_Missense_Mutation_p.A103G	p.A104G	NM_001891	NP_001882	P05814	CASB_HUMAN			5	324	-			104					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.311C>G	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494162	0.44352	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.13	-0.834	0.10779	.	1.104210	0.06963	N	0.816763	T	0.28665	0.0710	M	0.72118	2.19	0.09310	N	1	P	0.43750	0.816	B	0.30401	0.115	T	0.31052	-0.9957	9	0.66056	D	0.02	-20.7529	3.517	0.07728	0.4255:0.0:0.3869:0.1877	.	104	P05814	CASB_HUMAN	G	104	.	ENSP00000341030:A104G	A	-	2	0	CSN2	70857945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.492000	0.06467	-0.206000	0.10203	-0.781000	0.03364	GCT		0.463	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			16	123	0	0	0	0.007413	0	16	123				
NPNT	255743	broad.mit.edu	37	4	106863785	106863785	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:106863785G>C	ENST00000379987.2	+	8	1301	c.1085G>C	c.(1084-1086)aGt>aCt	p.S362T	NPNT_ENST00000514622.1_Missense_Mutation_p.S362T|NPNT_ENST00000506666.1_Missense_Mutation_p.S392T|NPNT_ENST00000305572.8_Missense_Mutation_p.S362T|NPNT_ENST00000453617.2_Missense_Mutation_p.S379T|NPNT_ENST00000427316.2_Missense_Mutation_p.S392T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	362	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCAGCTGCCAGTACACCTCCA	0.512																																							uc003hya.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1084-1086)AGT>ACT		nephronectin precursor							110.0	104.0	106.0					4																	106863785		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863785G>C		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1085G>C	4.37:g.106863785G>C	ENSP00000369323:p.Ser362Thr					NPNT_uc011cfc.1_Missense_Mutation_p.S379T|NPNT_uc011cfd.1_Missense_Mutation_p.S392T|NPNT_uc011cfe.1_Missense_Mutation_p.S392T|NPNT_uc010ilt.1_Missense_Mutation_p.S362T|NPNT_uc011cff.1_Missense_Mutation_p.S362T|NPNT_uc010ilu.1_Missense_Mutation_p.S258T	p.S362T	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1290	+		Hepatocellular(203;0.217)	362			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1085G>C	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.784068|-1.784068	0.00628|0.00628	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000514837|ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.|T;T;T;T;T;T;T	.|0.78246	.|-0.77;-1.12;-0.85;-1.16;-0.84;-0.83;-0.02	5.2|5.2	2.31|2.31	0.28768|0.28768	.|.	.|0.656003	.|0.15947	.|N	.|0.236883	T|T	0.56337|0.56337	0.1978|0.1978	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.001;0.0;0.0;0.001	.|B;B;B;B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001;0.001;0.001;0.001	T|T	0.21621|0.21621	-1.0240|-1.0240	5|10	.|0.15066	.|T	.|0.55	.|.	17.1315|17.1315	0.86727|0.86727	0.0:0.6107:0.3893:0.0|0.0:0.6107:0.3893:0.0	.|.	.|362;392;392;379;409;362;362	.|E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.|.;.;.;.;.;.;NPNT_HUMAN	H|T	338|362;379;392;362;362;392;409	.|ENSP00000369323:S362T;ENSP00000402884:S379T;ENSP00000389252:S392T;ENSP00000422044:S362T;ENSP00000302557:S362T;ENSP00000422474:S392T;ENSP00000426146:S409T	.|ENSP00000302557:S362T	Q|S	+|+	3|2	2|0	NPNT|NPNT	107083234|107083234	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.069000|0.069000	0.16628|0.16628	-0.758000|-0.758000	0.04766|0.04766	0.552000|0.552000	0.29026|0.29026	0.555000|0.555000	0.69702|0.69702	CAG|AGT		0.512	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	92	0	0	0	0.006214	0	7	92				
FAT4	79633	broad.mit.edu	37	4	126240206	126240206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:126240206C>A	ENST00000394329.3	+	1	2653	c.2640C>A	c.(2638-2640)aaC>aaA	p.N880K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	880	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N880K(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTATGGTTAACATAACAGTTA	0.448																																							uc003ifj.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2638-2640)AAC>AAA		FAT tumor suppressor homolog 4 precursor							52.0	52.0	52.0					4																	126240206		1974	4163	6137	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240206C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2640C>A	4.37:g.126240206C>A	ENSP00000377862:p.Asn880Lys						p.N880K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2640	+			880			Extracellular (Potential).|Cadherin 8.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2640C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094120	0.36952	.	.	ENSG00000196159	ENST00000394329	T	0.01705	4.68	5.13	3.31	0.37934	Cadherin (4);Cadherin-like (1);	0.000000	0.36740	U	0.002438	T	0.03263	0.0095	L	0.39566	1.225	0.80722	D	1	P	0.46987	0.888	P	0.54664	0.758	T	0.59731	-0.7399	10	0.10377	T	0.69	.	9.5441	0.39271	0.0:0.6959:0.0:0.3041	.	880	Q6V0I7	FAT4_HUMAN	K	880	ENSP00000377862:N880K	ENSP00000377862:N880K	N	+	3	2	FAT4	126459656	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.236000	0.32683	0.498000	0.27948	-0.345000	0.07892	AAC		0.448	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	67	1	0	5.50884e-06	0.013537	6.82785e-06	12	67				
RNF150	57484	broad.mit.edu	37	4	141888839	141888839	+	Missense_Mutation	SNP	C	C	A	rs558259951		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:141888839C>A	ENST00000515673.2	-	2	706	c.673G>T	c.(673-675)Gca>Tca	p.A225S	RNF150_ENST00000507500.1_Missense_Mutation_p.A225S|RNF150_ENST00000379512.2_Missense_Mutation_p.A84S|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000420921.2_Missense_Mutation_p.A84S			Q9ULK6	RN150_HUMAN	ring finger protein 150	225						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A225S(2)|p.A134S(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACGAGCCATGCGAGGGAAATG	0.423																																							uc003iio.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(673-675)GCA>TCA		ring finger protein 150 precursor							140.0	130.0	133.0					4																	141888839		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888839C>A	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.673G>T	4.37:g.141888839C>A	ENSP00000425840:p.Ala225Ser					RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.A225S	p.A225S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			2	1327	-	all_hematologic(180;0.162)		225			Helical; (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.673G>T	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450796	0.96205	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.16324	2.35;2.35;3.27;3.3;2.37	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.12091	-1.0561	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	225;225	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	S	84;84;225;225;56	ENSP00000368827:A84S;ENSP00000394581:A84S;ENSP00000425840:A225S;ENSP00000425568:A225S;ENSP00000425947:A56S	ENSP00000368827:A84S	A	-	1	0	RNF150	142108289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GCA		0.423	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		19	119	1	0	1.33834e-09	0.007413	2.03058e-09	19	119				
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:147796051C>T	ENST00000325106.4	-	7	842	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000513335.1_Missense_Mutation_p.E232K	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206								p.E206K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGAATGCTTCATAATGCTCA	0.448																																							uc003ikw.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(616-618)GAA>AAA		tetratricopeptide repeat domain 29							44.0	42.0	43.0					4																	147796051		1873	4117	5990	SO:0001583	missense	83894						binding	g.chr4:147796051C>T	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.616G>A	4.37:g.147796051C>T	ENSP00000316740:p.Glu206Lys					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.E232K|TTC29_uc010ipd.1_Missense_Mutation_p.E206K	p.E206K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			7	843	-	all_hematologic(180;0.151)		206			TPR 1.		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.616G>A	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925749	0.92319	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.31769	1.48;1.48;1.51;1.51	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.68952	2.095	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.54589	-0.8271	10	0.56958	D	0.05	-28.8814	20.2985	0.98592	0.0:1.0:0.0:0.0	.	206;232;206	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	K	232;232;206;206;206	ENSP00000423505:E232K;ENSP00000381861:E232K;ENSP00000316740:E206K;ENSP00000425778:E206K	ENSP00000316740:E206K	E	-	1	0	TTC29	148015501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.652000	0.67959	2.793000	0.96121	0.655000	0.94253	GAA		0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		6	38	0	0	0	0.008291	0	6	38				
IRF2	3660	broad.mit.edu	37	4	185310048	185310048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr4:185310048C>A	ENST00000393593.3	-	9	1121	c.914G>T	c.(913-915)tGg>tTg	p.W305L		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	305					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W305L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AAAAGGGGGCCAGGAGCTGTT	0.592																																							uc003iwf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)TGG>TTG		interferon regulatory factor 2							96.0	95.0	95.0					4																	185310048		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310048C>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.914G>T	4.37:g.185310048C>A	ENSP00000377218:p.Trp305Leu						p.W305L	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	1114	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	305					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.914G>T	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055541	0.55325	.	.	ENSG00000168310	ENST00000393593	D	0.98602	-5.02	5.14	5.14	0.70334	.	0.196377	0.39759	N	0.001269	D	0.95752	0.8618	L	0.55990	1.75	0.58432	D	0.999995	P	0.44195	0.828	B	0.32928	0.155	D	0.95378	0.8470	10	0.12430	T	0.62	-12.2223	18.7917	0.91976	0.0:1.0:0.0:0.0	.	305	P14316	IRF2_HUMAN	L	305	ENSP00000377218:W305L	ENSP00000377218:W305L	W	-	2	0	IRF2	185547042	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.165000	0.58196	2.682000	0.91365	0.561000	0.74099	TGG		0.592	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			19	120	1	0	5.35267e-07	0.007413	6.99556e-07	19	120				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																							uc010itg.1		NA																	0					0						c.(73-75)GTG>GGG		Homo sapiens cDNA clone IMAGE:40127561.																																						728609							g.chr5:1593386A>C																													5.37:g.1593386A>C						SDHAP3_uc011cme.1_RNA	p.V25G							2	151	-									Missense_Mutation	SNP	ENST00000605200.1	37	c.74T>G																																																																																					0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			3	67	0	0	0	0.014758	0	3	67				
PRLR	5618	broad.mit.edu	37	5	35072726	35072726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:35072726G>T	ENST00000382002.5	-	6	920	c.494C>A	c.(493-495)aCg>aAg	p.T165K	PRLR_ENST00000348262.3_Missense_Mutation_p.T165K|PRLR_ENST00000231423.3_Missense_Mutation_p.T165K|PRLR_ENST00000511486.1_Missense_Mutation_p.T64K|PRLR_ENST00000542609.1_Missense_Mutation_p.T165K|PRLR_ENST00000513753.1_Missense_Mutation_p.T165K|PRLR_ENST00000310101.5_Missense_Mutation_p.T165K|PRLR_ENST00000397391.3_Missense_Mutation_p.T94K|PRLR_ENST00000342362.5_Missense_Mutation_p.T64K|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	165	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.T165K(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATACAGGAGCGTGAACCAACC	0.448																																							uc003jjm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(493-495)ACG>AAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						153.0	148.0	149.0					5																	35072726		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35072726G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.494C>A	5.37:g.35072726G>T	ENSP00000371432:p.Thr165Lys					PRLR_uc003jjg.1_Missense_Mutation_p.T165K|PRLR_uc003jjh.1_Missense_Mutation_p.T165K|PRLR_uc003jji.1_Missense_Mutation_p.T94K|PRLR_uc003jjj.1_Missense_Mutation_p.T165K|PRLR_uc003jjk.1_Missense_Mutation_p.T94K|PRLR_uc003jjl.3_Missense_Mutation_p.T64K|PRLR_uc010iuw.1_Missense_Mutation_p.T94K	p.T165K	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		6	1024	-	all_lung(31;3.83e-05)		165			Fibronectin type-III 2.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.494C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687953	0.68271	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.68	1.98	0.26296	Fibronectin, type III (3);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.444270	0.28371	N	0.015589	T	0.52338	0.1728	M	0.69463	2.115	0.45272	D	0.998276	P;D;D;D;D;D;D	0.71674	0.954;0.983;0.978;0.998;0.963;0.978;0.978	B;P;P;P;B;P;P	0.55871	0.245;0.472;0.594;0.786;0.362;0.583;0.703	T	0.52895	-0.8514	10	0.87932	D	0	-0.007	10.5109	0.44862	0.3241:0.0:0.6759:0.0	.	165;165;64;94;165;165;165	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	K	165;165;165;94;165;64;165;64;165	ENSP00000231423:T165K;ENSP00000424841:T165K;ENSP00000311613:T165K;ENSP00000380546:T94K;ENSP00000441813:T165K;ENSP00000339213:T64K;ENSP00000371432:T165K;ENSP00000422556:T64K;ENSP00000309008:T165K	ENSP00000231423:T165K	T	-	2	0	PRLR	35108483	0.979000	0.34478	0.778000	0.31720	0.827000	0.46813	1.685000	0.37659	0.087000	0.17167	0.650000	0.86243	ACG		0.448	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			19	168	1	0	4.63292e-17	0.008871	8.67441e-17	19	168				
ANKRD55	79722	broad.mit.edu	37	5	55412488	55412488	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55412488A>T	ENST00000341048.4	-	9	1070	c.919T>A	c.(919-921)Tac>Aac	p.Y307N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y264N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y19N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	307								p.Y307N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGACCGCAGTACAGGGCATAG	0.507																																							uc003jqu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(919-921)TAC>AAC		ankyrin repeat domain 55 isoform 1							100.0	101.0	101.0					5																	55412488		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55412488A>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.919T>A	5.37:g.55412488A>T	ENSP00000342295:p.Tyr307Asn					ANKRD55_uc003jqt.2_Missense_Mutation_p.Y19N	p.Y307N	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			9	1071	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	306			ANK 9.		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.919T>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.498054	0.64186	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982;ENST00000505970	T;T;T	0.71461	-0.08;-0.08;-0.57	5.3	2.57	0.30868	Ankyrin repeat-containing domain (4);	0.316812	0.30252	N	0.010051	T	0.67316	0.2880	N	0.13299	0.325	0.39308	D	0.96502	P;D	0.69078	0.922;0.997	P;D	0.66979	0.697;0.948	T	0.67067	-0.5764	10	0.39692	T	0.17	.	10.3576	0.43974	0.8422:0.0:0.1578:0.0	.	307;306	B3KVT8;Q3KP44	.;ANR55_HUMAN	N	307;307;264;19;19	ENSP00000342295:Y307N;ENSP00000424230:Y264N;ENSP00000429421:Y19N	ENSP00000342295:Y307N	Y	-	1	0	ANKRD55	55448245	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	3.219000	0.51200	0.867000	0.35654	0.529000	0.55759	TAC		0.507	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		25	133	0	0	0	0.00632	0	25	133				
ANKRD55	79722	broad.mit.edu	37	5	55439661	55439661	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:55439661T>A	ENST00000341048.4	-	7	730	c.579A>T	c.(577-579)aaA>aaT	p.K193N	ANKRD55_ENST00000504958.2_Intron|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Missense_Mutation_p.K164N|RNA5SP184_ENST00000411071.1_RNA	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	193								p.K193N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTTTAAAGTCTTTATCCACAA	0.502																																							uc003jqu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(577-579)AAA>AAT		ankyrin repeat domain 55 isoform 1							180.0	179.0	179.0					5																	55439661		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55439661T>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.579A>T	5.37:g.55439661T>A	ENSP00000342295:p.Lys193Asn						p.K193N	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			7	731	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	192					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.579A>T	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086066	0.55861	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000513241	T;D	0.82344	2.43;-1.6	5.51	-0.422	0.12329	.	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	L	0.31294	0.92	0.44447	D	0.997377	D	0.89917	1.0	D	0.91635	0.999	T	0.77262	-0.2653	10	0.29301	T	0.29	.	11.0323	0.47781	0.0:0.5107:0.0:0.4893	.	193	B3KVT8	.	N	193;193;164	ENSP00000342295:K193N;ENSP00000423507:K164N	ENSP00000342295:K193N	K	-	3	2	ANKRD55	55475418	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.424000	0.21330	0.123000	0.18342	0.454000	0.30748	AAA		0.502	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		50	301	0	0	0	0.01441	0	50	301				
IQGAP2	10788	broad.mit.edu	37	5	75989204	75989204	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:75989204G>T	ENST00000274364.6	+	31	4227	c.3930G>T	c.(3928-3930)gtG>gtT	p.V1310V	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Silent_p.V806V|IQGAP2_ENST00000396234.3_Silent_p.V806V|IQGAP2_ENST00000379730.3_Silent_p.V812V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1310					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.V1310V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATTGATGTGATCCGGAACC	0.398																																							uc003kek.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|central_nervous_system(1)	7						c.(3928-3930)GTG>GTT		IQ motif containing GTPase activating protein 2							93.0	85.0	88.0					5																	75989204		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75989204G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3930G>T	5.37:g.75989204G>T						IQGAP2_uc011csv.1_Silent_p.V806V|IQGAP2_uc003kel.2_Silent_p.V806V|IQGAP2_uc010izw.1_Silent_p.V11V	p.V1310V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	31	4152	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1310					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3930G>T	CCDS34188.1																																																																																				0.398	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		7	40	1	0	2.0095e-06	0.001984	2.53831e-06	7	40				
RASA1	5921	broad.mit.edu	37	5	86672763	86672763	+	Silent	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:86672763A>T	ENST00000274376.6	+	17	2814	c.2250A>T	c.(2248-2250)acA>acT	p.T750T	RASA1_ENST00000506290.1_Silent_p.T584T|RASA1_ENST00000456692.2_Silent_p.T573T|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Silent_p.T583T	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	750	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.T750T(2)|p.T573T(2)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGACCGAACACTACTGGCCA	0.368																																							uc003kiw.2		NA																	4	Substitution - coding silent(4)		lung(4)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2248-2250)ACA>ACT		RAS p21 protein activator 1 isoform 1							162.0	148.0	153.0					5																	86672763		2203	4300	6503	SO:0001819	synonymous_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672763A>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2250A>T	5.37:g.86672763A>T						RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.T573T|RASA1_uc011ctv.1_Silent_p.T583T|RASA1_uc011ctw.1_Silent_p.T584T|RASA1_uc010jaw.2_Silent_p.T572T	p.T750T	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	17	2368	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	750			Ras-GAP.		B2R6W3|Q9UDI1	Silent	SNP	ENST00000274376.6	37	c.2250A>T	CCDS34200.1																																																																																				0.368	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		22	137	0	0	0	0.016522	0	22	137				
IRF1	3659	broad.mit.edu	37	5	131822192	131822192	+	Intron	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:131822192G>C	ENST00000245414.4	-	6	803				IRF1_ENST00000405885.2_Intron|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATGCCTCCAAGAGAAAGAGTC	0.582																																							uc010jds.1		NA																	0					0						c.(352-354)AGA>ACA		Homo sapiens full length insert cDNA clone ZA99C08.																																				SO:0001627	intron_variant	441108							g.chr5:131822192G>C		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.544+56C>G	5.37:g.131822192G>C						IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron	p.R118T			Q8N8D9	CE056_HUMAN			4	528	+			Error:Variant_position_missing_in_Q8N8D9_after_alignment					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.353G>C	CCDS4155.1																																																																																				0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		7	20	0	0	0	0.001984	0	7	20				
PCDHGA2	56113	broad.mit.edu	37	5	140719632	140719632	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:140719632T>C	ENST00000394576.2	+	1	1094	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I365T(4)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCATAATTGGGCTT	0.428																																							uc003ljk.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)	3						c.(1093-1095)ATA>ACA		protocadherin gamma subfamily A, 2 isoform 1							81.0	84.0	83.0					5																	140719632		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719632T>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1094T>C	5.37:g.140719632T>C	ENSP00000378077:p.Ile365Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.I365T	p.I365T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+			365			Cadherin 4.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1094T>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798664	0.02841	.	.	ENSG00000081853	ENST00000394576	T	0.01665	4.7	4.87	2.37	0.29283	Cadherin (3);Cadherin-like (1);	0.746996	0.11026	U	0.607762	T	0.01156	0.0038	N	0.04260	-0.245	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.18871	0.013;0.023	T	0.49224	-0.8962	10	0.48119	T	0.1	.	7.0212	0.24914	0.1316:0.0746:0.0:0.7938	.	365;365	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	365	ENSP00000378077:I365T	ENSP00000378077:I365T	I	+	2	0	PCDHGA2	140699816	0.000000	0.05858	0.060000	0.19600	0.033000	0.12548	0.423000	0.21313	0.275000	0.22094	0.260000	0.18958	ATA		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		27	179	0	0	0	0.00632	0	27	179				
PCDH12	51294	broad.mit.edu	37	5	141325354	141325354	+	Silent	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:141325354C>T	ENST00000231484.3	-	4	4357	c.3147G>A	c.(3145-3147)cgG>cgA	p.R1049R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1049					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCTCAGCCGGTCCAGGG	0.677																																							uc003llx.2		NA																	0				ovary(3)	3						c.(3145-3147)CGG>CGA		protocadherin 12 precursor							30.0	34.0	33.0					5																	141325354		2201	4293	6494	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325354C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3147G>A	5.37:g.141325354C>T							p.R1049R	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	4358	-		all_hematologic(541;0.0999)	1049			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.3147G>A	CCDS4269.1																																																																																				0.677	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		3	61	0	0	0	0.004672	0	3	61				
CSF1R	1436	broad.mit.edu	37	5	149449602	149449602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:149449602C>A	ENST00000286301.3	-	10	1635	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	448	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.Q448H(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATCCCAGACCTGCAGCACTT	0.587																																							uc003lrl.2		NA																	4	Substitution - Missense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1342-1344)CAG>CAT		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						92.0	88.0	89.0					5																	149449602		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149449602C>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1344G>T	5.37:g.149449602C>A	ENSP00000286301:p.Gln448His					CSF1R_uc011dcd.1_Missense_Mutation_p.Q300H|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q448H	p.Q448H	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		9	1539	-			448			Ig-like C2-type 5.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1344G>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517487	0.27123	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.43688	0.94	2.75	1.8	0.24995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50548	0.1622	M	0.62723	1.935	0.09310	N	1	P;P	0.49358	0.923;0.728	P;P	0.56343	0.796;0.505	T	0.31971	-0.9924	9	0.38643	T	0.18	.	7.0498	0.25067	0.2712:0.7288:0.0:0.0	.	300;448	B4E2Y8;P07333	.;CSF1R_HUMAN	H	448;300	ENSP00000286301:Q448H	ENSP00000286301:Q448H	Q	-	3	2	CSF1R	149429795	0.002000	0.14202	0.002000	0.10522	0.454000	0.32378	0.298000	0.19120	0.381000	0.24851	0.555000	0.69702	CAG		0.587	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		12	69	1	0	1.05317e-09	0.020292	1.60715e-09	12	69				
SLC36A3	285641	broad.mit.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T	rs551325908		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral component of membrane (GO:0016021)		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478																																							uc003ltw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1372-1374)ATC>ATA		solute carrier family 36, member 3 isoform 2							134.0	130.0	131.0					5																	150656993		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150656993G>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1374C>A	5.37:g.150656993G>T						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.I443I|SLC36A3_uc003ltx.2_Silent_p.I499I	p.I458I	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1793	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	458			Extracellular (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.1374C>A	CCDS4314.1																																																																																				0.478	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		20	203	1	0	8.34094e-07	0.008871	1.07415e-06	20	203				
RIPK1	8737	broad.mit.edu	37	6	3105762	3105762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:3105762G>T	ENST00000259808.4	+	9	1351	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	RIPK1_ENST00000541791.1_Missense_Mutation_p.M305I|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.M351I			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	351	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.M351I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACTTGGGATGGGTCCTGTGG	0.493																																							uc010jni.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|lung(1)|skin(1)	5						c.(1051-1053)ATG>ATT		receptor (TNFRSF)-interacting serine-threonine							164.0	166.0	165.0					6																	3105762		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3105762G>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1053G>T	6.37:g.3105762G>T	ENSP00000259808:p.Met351Ile					RIPK1_uc003muv.3_Missense_Mutation_p.M188I|RIPK1_uc003muw.3_Missense_Mutation_p.M286I|RIPK1_uc011dhs.1_Missense_Mutation_p.M305I|RIPK1_uc003mux.2_Missense_Mutation_p.M351I	p.M351I	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			9	1285	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	351			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1053G>T	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	1.612	-0.523696	0.04141	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.76186	-1.0;-0.48;-1.0	5.75	-4.55	0.03441	.	0.711936	0.14822	N	0.296419	T	0.19366	0.0465	N	0.17474	0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29397	-1.0013	10	0.08599	T	0.76	-2.5157	0.1374	0.00080	0.3274:0.2086:0.1558:0.3082	.	305;351	Q13546-2;Q13546	.;RIPK1_HUMAN	I	351;305;351	ENSP00000259808:M351I;ENSP00000442294:M305I;ENSP00000369773:M351I	ENSP00000259808:M351I	M	+	3	0	RIPK1	3050761	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	-1.034000	0.03567	-0.693000	0.05121	-0.819000	0.03115	ATG		0.493	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		37	306	1	0	2.04263e-09	0.019004	3.08146e-09	37	306				
ALDH5A1	7915	broad.mit.edu	37	6	24503644	24503644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:24503644G>C	ENST00000357578.3	+	3	737	c.592G>C	c.(592-594)Gct>Cct	p.A198P	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A110P|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A170P|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A198P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	198					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.A198P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CATAGGCGTGGCTGCAGTCAT	0.567																																							uc003neg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(592-594)GCT>CCT		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						43.0	42.0	42.0					6																	24503644		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24503644G>C	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.592G>C	6.37:g.24503644G>C	ENSP00000350191:p.Ala198Pro					ALDH5A1_uc003nef.2_Missense_Mutation_p.A198P	p.A198P	NM_001080	NP_001071	P51649	SSDH_HUMAN			3	620	+			198					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.592G>C	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239539	0.79800	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.92	4.92	0.64577	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052417	0.85682	D	0.000000	D	0.95915	0.8670	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.96186	0.9134	10	0.87932	D	0	-19.6063	18.6912	0.91583	0.0:0.0:1.0:0.0	.	198;198	P51649;G5E949	SSDH_HUMAN;.	P	198;110;170;198	ENSP00000350191:A198P;ENSP00000438193:A110P;ENSP00000417687:A170P;ENSP00000314649:A198P	ENSP00000314649:A198P	A	+	1	0	ALDH5A1	24611623	1.000000	0.71417	0.994000	0.49952	0.449000	0.32228	6.152000	0.71812	2.708000	0.92522	0.650000	0.86243	GCT		0.567	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			6	54	0	0	0	0.001984	0	6	54				
ZNF165	7718	broad.mit.edu	37	6	28056964	28056964	+	Nonsense_Mutation	SNP	C	C	T	rs202100277		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:28056964C>T	ENST00000377325.1	+	4	1730	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	392					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.R392*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGACATCGGCGAATTCACAC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.001		0.0	False		,,,				2504	0.0						uc003nkg.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1174-1176)CGA>TGA		zinc finger protein 165							62.0	68.0	66.0					6																	28056964		2203	4300	6503	SO:0001587	stop_gained	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056964C>T	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1174C>T	6.37:g.28056964C>T	ENSP00000366542:p.Arg392*					ZNF165_uc003nkh.2_Nonsense_Mutation_p.R392*|ZNF165_uc003nki.3_Nonsense_Mutation_p.R392*|ZSCAN12P1_uc003nkj.3_5'Flank	p.R392*	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2258	+			392			C2H2-type 3.			Nonsense_Mutation	SNP	ENST00000377325.1	37	c.1174C>T	CCDS4643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	6.974368	0.97975	.	.	ENSG00000197279	ENST00000377325	.	.	.	3.04	-1.01	0.10169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.5159	0.00603	0.3831:0.2075:0.1152:0.2941	.	.	.	.	X	392	.	ENSP00000366542:R392X	R	+	1	2	ZNF165	28164943	0.000000	0.05858	0.985000	0.45067	0.940000	0.58332	-0.294000	0.08309	-0.240000	0.09696	-0.225000	0.12378	CGA		0.448	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		5	93	0	0	0	0.001168	0	5	93				
OR12D2	26529	broad.mit.edu	37	6	29364990	29364990	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:29364990A>C	ENST00000383555.2	+	1	575	c.514A>C	c.(514-516)Atc>Ctc	p.I172L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I172L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCCAACCGTATCCATCATTT	0.478																																							uc003nmf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(514-516)ATC>CTC		olfactory receptor, family 12, subfamily D,							172.0	171.0	171.0					6																	29364990		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364990A>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.514A>C	6.37:g.29364990A>C	ENSP00000373047:p.Ile172Leu						p.I172L	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	575	+			172			Extracellular (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.514A>C	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	A	3.384	-0.125740	0.06795	.	.	ENSG00000168787	ENST00000383555	T	0.00188	8.59	3.94	0.0134	0.14096	GPCR, rhodopsin-like superfamily (1);	0.315558	0.27068	N	0.021099	T	0.00073	0.0002	L	0.52905	1.665	0.09310	N	1	B	0.12013	0.005	B	0.22880	0.042	T	0.41251	-0.9519	10	0.52906	T	0.07	.	8.5943	0.33705	0.6535:0.0:0.3465:0.0	.	172	P58182	O12D2_HUMAN	L	172	ENSP00000373047:I172L	ENSP00000373047:I172L	I	+	1	0	OR12D2	29472969	0.683000	0.27633	0.034000	0.17996	0.019000	0.09904	1.505000	0.35736	-0.159000	0.11021	0.172000	0.16884	ATC		0.478	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			13	244	0	0	0	0.00499	0	13	244				
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32052275C>A	ENST00000375244.3	-	8	3561	c.3360G>T	c.(3358-3360)ctG>ctT	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582																																							uc003nzl.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(3358-3360)CTG>CTT		tenascin XB isoform 1 precursor							56.0	62.0	60.0					6																	32052275		1314	2568	3882	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32052275C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3360G>T	6.37:g.32052275C>A							p.L1120L	NM_019105	NP_061978	P22105	TENX_HUMAN			8	3562	-			1207			Fibronectin type-III 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.3360G>T																																																																																					0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		6	28	1	0	0.00116845	0.001168	0.00130156	6	28				
NOTCH4	4855	broad.mit.edu	37	6	32187987	32187987	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:32187987G>A	ENST00000375023.3	-	7	1372	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	412	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.L412F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCCTGTGAGGGGGTTGGTG	0.627																																							uc003obb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1234-1236)CTC>TTC		notch4 preproprotein							66.0	67.0	67.0					6																	32187987		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32187987G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1234C>T	6.37:g.32187987G>A	ENSP00000364163:p.Leu412Phe					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.L412F	p.L412F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			7	1373	-			412			EGF-like 10.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1234C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477781	0.44044	.	.	ENSG00000204301	ENST00000375023	D	0.82526	-1.62	4.16	3.2	0.36748	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.324189	0.18159	N	0.149843	T	0.80476	0.4630	L	0.39245	1.2	0.58432	D	0.999992	D;B	0.67145	0.996;0.302	D;B	0.70016	0.967;0.033	T	0.81411	-0.0945	10	0.72032	D	0.01	.	6.2321	0.20740	0.0:0.1866:0.592:0.2214	.	412;412	Q6P3V5;Q99466	.;NOTC4_HUMAN	F	412	ENSP00000364163:L412F	ENSP00000364163:L412F	L	-	1	0	NOTCH4	32295965	0.274000	0.24191	0.994000	0.49952	0.647000	0.38526	0.659000	0.24994	2.133000	0.65898	0.305000	0.20034	CTC		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	62	0	0	0	0.006214	0	5	62				
CUL9	23113	broad.mit.edu	37	6	43152465	43152465	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:43152465G>A	ENST00000252050.4	+	2	501	c.417G>A	c.(415-417)acG>acA	p.T139T	CUL9_ENST00000354495.3_Silent_p.T139T|CUL9_ENST00000372647.2_Silent_p.T139T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	139					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCCTCACGGCCGCTGTGC	0.637																																							uc003ouk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(415-417)ACG>ACA		p53-associated parkin-like cytoplasmic protein							67.0	68.0	68.0					6																	43152465		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152465G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.417G>A	6.37:g.43152465G>A						CUL9_uc003ouj.1_Silent_p.T139T|CUL9_uc003oul.2_Silent_p.T139T|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.T139T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			2	492	+			139					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.417G>A	CCDS4890.1																																																																																				0.637	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	61	0	0	0	0.016723	0	4	61				
RARS2	57038	broad.mit.edu	37	6	88228554	88228554	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:88228554T>A	ENST00000369536.5	-	15	1338	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	431					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.A431A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GAATAATGAGTGCTGCGAGCC	0.463																																							uc003pme.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1291-1293)GCA>GCT		arginyl-tRNA synthetase 2, mitochondrial							82.0	80.0	80.0					6																	88228554		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88228554T>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1293A>T	6.37:g.88228554T>A						RARS2_uc003pmb.2_Silent_p.A256A|RARS2_uc003pmc.2_Silent_p.A256A|RARS2_uc003pmd.2_Silent_p.A68A|RARS2_uc003pmf.2_RNA	p.A431A	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	15	1353	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	431					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.1293A>T	CCDS5011.1																																																																																				0.463	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		9	71	0	0	0	0.006214	0	9	71				
GABRR1	2569	broad.mit.edu	37	6	89891759	89891759	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:89891759A>T	ENST00000454853.2	-	8	924	c.814T>A	c.(814-816)Tac>Aac	p.Y272N	GABRR1_ENST00000369451.3_Missense_Mutation_p.Y185N|GABRR1_ENST00000435811.1_Missense_Mutation_p.Y255N	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	272					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y266N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AAATTAATGTAGAGACGGTTG	0.448																																							uc003pna.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(814-816)TAC>AAC		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						140.0	130.0	133.0					6																	89891759		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891759A>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.814T>A	6.37:g.89891759A>T	ENSP00000412673:p.Tyr272Asn					GABRR1_uc011dzv.1_Missense_Mutation_p.Y249N	p.Y272N	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	8	1269	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	272			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.814T>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257974	0.80246	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.77620	-1.11;-1.11;-1.11	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	N	0.20807	0.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.983;0.985	T	0.74884	-0.3512	9	.	.	.	-24.1877	15.3687	0.74545	1.0:0.0:0.0:0.0	.	255;272	P24046-2;P24046	.;GBRR1_HUMAN	N	272;255;185;185	ENSP00000412673:Y272N;ENSP00000394687:Y255N;ENSP00000358463:Y185N	.	Y	-	1	0	GABRR1	89948478	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.339000	0.96797	2.030000	0.59900	0.383000	0.25322	TAC		0.448	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			8	85	0	0	0	0.006214	0	8	85				
TRAF3IP2	10758	broad.mit.edu	37	6	111913163	111913163	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:111913163C>A	ENST00000340026.6	-	3	748	c.154G>T	c.(154-156)Gca>Tca	p.A52S	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.A43S|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.A43S			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	52	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.A52S(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGTTGGGTGCCATGTTCCTT	0.478																																							uc011ebc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(127-129)GCA>TCA		TRAF3 interacting protein 2 isoform 2							133.0	134.0	134.0					6																	111913163		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913163C>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.154G>T	6.37:g.111913163C>A	ENSP00000345984:p.Ala52Ser					TRAF3IP2_uc003pvg.2_Missense_Mutation_p.A43S|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.A43S|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.A43S|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.A43S	p.A43S	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	742	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	52					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.127G>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.373833	0.42105	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.35789	1.3;1.29;1.29	5.92	3.07	0.35406	.	0.499292	0.20143	N	0.098328	T	0.16599	0.0399	L	0.59436	1.845	0.27367	N	0.955798	P;P;B	0.38827	0.518;0.649;0.335	B;B;B	0.36666	0.115;0.23;0.086	T	0.03887	-1.0995	10	0.51188	T	0.08	-26.7102	9.8269	0.40916	0.0:0.6131:0.3158:0.0711	.	52;43;43	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	S	52;43;52;43	ENSP00000357750:A43S;ENSP00000345984:A52S;ENSP00000352889:A43S	ENSP00000345984:A52S	A	-	1	0	TRAF3IP2	112019856	0.010000	0.17322	0.231000	0.23993	0.898000	0.52572	1.905000	0.39878	0.321000	0.23259	0.561000	0.74099	GCA		0.478	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			21	146	1	0	1.96292e-10	0.010504	3.12176e-10	21	146				
IFNGR1	3459	broad.mit.edu	37	6	137519214	137519214	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:137519214G>A	ENST00000367739.4	-	7	1545	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	IFNGR1_ENST00000543628.1_Missense_Mutation_p.S447F	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	475					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.S475F(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACCAATCAAGGACTCTTTACC	0.413																																							uc003qho.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1423-1425)TCC>TTC		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						114.0	115.0	114.0					6																	137519214		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519214G>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1424C>T	6.37:g.137519214G>A	ENSP00000356713:p.Ser475Phe					IFNGR1_uc011edm.1_Missense_Mutation_p.S447F	p.S475F	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1527	-	Colorectal(23;0.24)		475			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.1424C>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107161	0.77096	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.76709	-1.04;-0.86	6.03	6.03	0.97812	.	0.423540	0.23664	N	0.045790	T	0.81669	0.4871	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.956	T	0.82841	-0.0258	10	0.87932	D	0	-10.8176	16.0569	0.80812	0.0:0.0:1.0:0.0	.	447;475	F5H5M7;P15260	.;INGR1_HUMAN	F	475;447	ENSP00000356713:S475F;ENSP00000443282:S447F	ENSP00000356713:S475F	S	-	2	0	IFNGR1	137560907	0.996000	0.38824	1.000000	0.80357	0.864000	0.49448	5.086000	0.64474	2.861000	0.98227	0.655000	0.94253	TCC		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			17	173	0	0	0	0.00499	0	17	173				
SYNE1	23345	broad.mit.edu	37	6	152949423	152949423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:152949423G>T	ENST00000367255.5	-	3	645	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SYNE1_ENST00000367248.3_Missense_Mutation_p.A15D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A15D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A15D|SYNE1_ENST00000367253.4_Missense_Mutation_p.A15D|SYNE1_ENST00000466159.2_Missense_Mutation_p.A15D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A15D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A15D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	15	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A15D(6)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCACATTGGCGATATCCCG	0.498										HNSCC(10;0.0054)																													uc010kiw.2		NA																	6	Substitution - Missense(6)		lung(6)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(43-45)GCC>GAC		spectrin repeat containing, nuclear envelope 1							102.0	107.0	105.0					6																	152949423		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152949423G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.44C>A	6.37:g.152949423G>T	ENSP00000356224:p.Ala15Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A15D|SYNE1_uc003qou.3_Missense_Mutation_p.A15D|SYNE1_uc010kjb.1_Missense_Mutation_p.A15D|SYNE1_uc003qpa.1_Missense_Mutation_p.A15D	p.A15D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	3	646	-		Ovarian(120;0.0955)	15			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.44C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471623	0.63737	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.98	4.98	0.66077	Calponin homology domain (1);	0.168535	0.28618	N	0.014719	D	0.88962	0.6580	N	0.25201	0.72	0.80722	D	1	P;P;P;P;P	0.41313	0.745;0.622;0.573;0.622;0.739	B;B;B;B;P	0.45232	0.351;0.282;0.3;0.282;0.474	D	0.87274	0.2288	10	0.16896	T	0.51	.	13.9443	0.64075	0.0:0.0:1.0:0.0	.	15;15;15;15;15	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	D	15	ENSP00000356224:A15D;ENSP00000396024:A15D;ENSP00000265368:A15D;ENSP00000390975:A15D;ENSP00000341887:A15D;ENSP00000356222:A15D;ENSP00000356217:A15D;ENSP00000414510:A15D;ENSP00000446021:A15D;ENSP00000441264:A15D	ENSP00000265368:A15D	A	-	2	0	SYNE1	152991116	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.771000	0.62318	2.750000	0.94351	0.655000	0.94253	GCC		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		33	225	1	0	5.8336e-16	0.015359	1.06212e-15	33	225				
SNX9	51429	broad.mit.edu	37	6	158317937	158317937	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:158317937G>C	ENST00000392185.3	+	5	550	c.379G>C	c.(379-381)Gcc>Ccc	p.A127P		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	127					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A127P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGGCTGGGGGGCCCAGCCAGA	0.587																																							uc003qqv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GCC>CCC		sorting nexin 9							78.0	93.0	88.0					6																	158317937		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158317937G>C	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.379G>C	6.37:g.158317937G>C	ENSP00000376024:p.Ala127Pro						p.A127P	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	5	552	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	127					Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.379G>C	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117610	0.20877	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.48836	0.8	5.37	3.31	0.37934	.	1.454060	0.04095	N	0.311970	T	0.15262	0.0368	N	0.12182	0.205	0.80722	D	1	B	0.32717	0.381	B	0.30401	0.115	T	0.31586	-0.9938	10	0.25751	T	0.34	-3.0146	7.5424	0.27746	0.0809:0.0:0.4453:0.4737	.	127	Q9Y5X1	SNX9_HUMAN	P	127	ENSP00000376024:A127P	ENSP00000376024:A127P	A	+	1	0	SNX9	158237925	0.817000	0.29147	0.971000	0.41717	0.445000	0.32107	0.041000	0.13927	2.670000	0.90874	0.655000	0.94253	GCC		0.587	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			20	186	0	0	0	0.01892	0	20	186				
SOD2	6648	broad.mit.edu	37	6	160103667	160103667	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr6:160103667A>C	ENST00000546087.1	-	7	2216	c.389T>G	c.(388-390)cTt>cGt	p.L130R	SOD2_ENST00000337404.4_Missense_Mutation_p.L137R|SOD2_ENST00000538183.2_Missense_Mutation_p.L176R|SOD2_ENST00000444946.2_Missense_Mutation_p.L116R|SOD2_ENST00000367055.4_Missense_Mutation_p.L176R|SOD2_ENST00000367054.2_Missense_Mutation_p.L137R			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	176					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)	p.L176R(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CAGTGGAATAAGGCCTGTTAG	0.368																																							uc003qsg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(526-528)CTT>CGT		manganese superoxide dismutase isoform A							61.0	58.0	59.0					6																	160103667		2203	4300	6503	SO:0001583	missense	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160103667A>C	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.389T>G	6.37:g.160103667A>C	ENSP00000442920:p.Leu130Arg					SOD2_uc003qsf.3_5'Flank|SOD2_uc003qsh.2_Missense_Mutation_p.L137R|SOD2_uc003qsi.1_Missense_Mutation_p.L176R|SOD2_uc011efu.1_Missense_Mutation_p.L116R|SOD2_uc011efv.1_Missense_Mutation_p.L137R	p.L176R	NM_001024465	NP_001019636	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	5	681	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	176					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Missense_Mutation	SNP	ENST00000546087.1	37	c.527T>G		.	.	.	.	.	.	.	.	.	.	A	15.30	2.792794	0.50102	.	.	ENSG00000112096	ENST00000367055;ENST00000538183;ENST00000367054;ENST00000546087;ENST00000444946;ENST00000337404	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.9;0.79	5.77	3.37	0.38596	Manganese/iron superoxide dismutase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;0.997;0.997;1.0	T	0.73824	-0.3861	10	0.72032	D	0.01	-19.4819	10.1382	0.42719	0.8647:0.0:0.1353:0.0	.	116;172;137;176	B4E3K9;Q7Z7M4;B4DL20;P04179	.;.;.;SODM_HUMAN	R	176;176;137;130;116;137	ENSP00000356022:L176R;ENSP00000446252:L176R;ENSP00000356021:L137R;ENSP00000442920:L130R;ENSP00000404804:L116R;ENSP00000337127:L137R	ENSP00000337127:L137R	L	-	2	0	SOD2	160023657	1.000000	0.71417	0.971000	0.41717	0.168000	0.22595	9.228000	0.95250	0.461000	0.27071	-0.296000	0.09543	CTT		0.368	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		5	62	0	0	0	0.014758	0	5	62				
SLC29A4	222962	broad.mit.edu	37	7	5338634	5338634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:5338634G>T	ENST00000396872.3	+	8	1059	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A286S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A300S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	300					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.A300S(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CCCAGCCCCGGCCCTGGCCCC	0.672																																							uc003sod.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(898-900)GCC>TCC		solute carrier family 29 (nucleoside							17.0	23.0	21.0					7																	5338634		2197	4295	6492	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338634G>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.898G>T	7.37:g.5338634G>T	ENSP00000380081:p.Ala300Ser					SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A300S|SLC29A4_uc003soe.2_Missense_Mutation_p.A286S|SLC29A4_uc010ksw.2_RNA	p.A300S	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	8	1059	+		Ovarian(82;0.0175)	300			Cytoplasmic (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.898G>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	0.031	-1.332362	0.01298	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.63255	-0.03;-0.03;-0.03	4.07	3.17	0.36434	Major facilitator superfamily domain, general substrate transporter (1);	0.846151	0.10027	N	0.725191	T	0.42698	0.1214	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.18840	-1.0324	10	0.09338	T	0.73	-15.9639	10.3602	0.43989	0.0983:0.0:0.9017:0.0	.	286;300	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	300;300;286	ENSP00000380081:A300S;ENSP00000297195:A300S;ENSP00000385845:A286S	ENSP00000297195:A300S	A	+	1	0	SLC29A4	5305160	0.000000	0.05858	0.004000	0.12327	0.108000	0.19459	0.668000	0.25127	0.801000	0.34066	0.431000	0.28591	GCC		0.672	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		3	24	1	0	0.00024832	0.009096	0.000286273	3	24				
CRHR2	1395	broad.mit.edu	37	7	30693085	30693085	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:30693085G>A	ENST00000471646.1	-	12	1644	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	CRHR2_ENST00000341843.4_Silent_p.A395A|CRHR2_ENST00000348438.4_Silent_p.A436A|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	409					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.A409A(2)|p.A395A(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCACACAGCGGCCGTCTGCT	0.642																																							uc003tbn.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(2)|ovary(1)|skin(1)	4						c.(1225-1227)GCC>GCT		corticotropin releasing hormone receptor 2							164.0	155.0	158.0					7																	30693085		2203	4300	6503	SO:0001819	synonymous_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693085G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1227C>T	7.37:g.30693085G>A						CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Silent_p.A408A|CRHR2_uc010kvy.1_Silent_p.A245A|CRHR2_uc003tbo.2_Silent_p.A395A|CRHR2_uc003tbp.2_Silent_p.A436A	p.A409A	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			12	1471	-			409			Cytoplasmic (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	c.1227C>T	CCDS5429.1																																																																																				0.642	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			22	117	0	0	0	0.01892	0	22	117				
RALA	5898	broad.mit.edu	37	7	39730128	39730128	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:39730128G>T	ENST00000005257.2	+	3	642	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	88					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G88W(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAGTGGGGAGGGGTTCCTCTG	0.458																																							uc003thd.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(262-264)GGG>TGG		ras related v-ral simian leukemia viral oncogene							82.0	81.0	82.0					7																	39730128		2203	4300	6503	SO:0001583	missense	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39730128G>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.262G>T	7.37:g.39730128G>T	ENSP00000005257:p.Gly88Trp						p.G88W	NM_005402	NP_005393	P11233	RALA_HUMAN			3	562	+			88					A4D1W3	Missense_Mutation	SNP	ENST00000005257.2	37	c.262G>T	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777643	0.90195	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	D;T	0.82711	-1.64;-0.66	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97431	1.0015	10	0.87932	D	0	.	18.6095	0.91279	0.0:0.0:1.0:0.0	.	88	P11233	RALA_HUMAN	W	88	ENSP00000005257:G88W;ENSP00000388975:G88W	ENSP00000005257:G88W	G	+	1	0	RALA	39696653	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.601000	0.98297	2.631000	0.89168	0.467000	0.42956	GGG		0.458	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		16	85	1	0	1.15088e-07	0.004007	1.55016e-07	16	85				
GRB10	2887	broad.mit.edu	37	7	50742267	50742267	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:50742267C>A	ENST00000401949.1	-	6	697	c.228G>T	c.(226-228)acG>acT	p.T76T	GRB10_ENST00000398810.2_Silent_p.T18T|GRB10_ENST00000402497.1_Silent_p.T18T|GRB10_ENST00000403097.1_Silent_p.T70T|GRB10_ENST00000439599.1_Silent_p.T70T|GRB10_ENST00000407526.1_Silent_p.T18T|GRB10_ENST00000402578.1_Silent_p.T18T|GRB10_ENST00000335866.3_Silent_p.T18T|GRB10_ENST00000398812.2_Silent_p.T76T|GRB10_ENST00000406641.1_Silent_p.T18T|GRB10_ENST00000357271.5_Silent_p.T76T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	76					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T76T(2)|p.T70T(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGAGGGGCACCGTGTCTGACT	0.622									Russell-Silver syndrome																														uc003tpi.2		NA																	4	Substitution - coding silent(4)		lung(4)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(226-228)ACG>ACT		growth factor receptor-bound protein 10 isoform							55.0	62.0	60.0					7																	50742267		2084	4211	6295	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50742267C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.228G>T	7.37:g.50742267C>A						GRB10_uc003tph.3_Silent_p.T18T|GRB10_uc003tpj.2_Silent_p.T76T|GRB10_uc003tpk.2_Silent_p.T76T|GRB10_uc010kzb.2_Silent_p.T18T|GRB10_uc003tpl.2_Silent_p.T70T|GRB10_uc003tpm.2_Silent_p.T18T|GRB10_uc003tpn.2_Silent_p.T18T	p.T76T	NM_005311	NP_005302	Q13322	GRB10_HUMAN			3	259	-	Glioma(55;0.08)|all_neural(89;0.245)		76					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.228G>T	CCDS43582.1																																																																																				0.622	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			3	49	1	0	6.4e-05	0.004672	7.61081e-05	3	49				
CACNA2D1	781	broad.mit.edu	37	7	81662148	81662148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:81662148G>T	ENST00000356253.5	-	12	1363	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Q370K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	370	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q370K(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AATATCTCCTGGGCTCTCTCT	0.279																																							uc003uhr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)	6						c.(1108-1110)CAG>AAG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						83.0	82.0	82.0					7																	81662148		2202	4299	6501	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81662148G>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1108C>A	7.37:g.81662148G>T	ENSP00000348589:p.Gln370Lys						p.Q370K	NM_000722	NP_000713	P54289	CA2D1_HUMAN			12	1364	-			370			Extracellular (Potential).|VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1108C>A		.	.	.	.	.	.	.	.	.	.	G	15.45	2.835743	0.50951	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.82893	-1.66;-1.66	5.65	5.65	0.86999	.	0.059053	0.64402	D	0.000001	T	0.73590	0.3606	N	0.20685	0.6	0.80722	D	1	B	0.10296	0.003	B	0.17098	0.017	T	0.68895	-0.5288	10	0.49607	T	0.09	-11.3391	14.5519	0.68073	0.0:0.0:0.8538:0.1462	.	370	P54289-2	.	K	370	ENSP00000349320:Q370K;ENSP00000348589:Q370K	ENSP00000284088:Q370K	Q	-	1	0	CACNA2D1	81500084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.320000	0.59203	2.673000	0.90976	0.585000	0.79938	CAG		0.279	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				12	94	1	0	7.93312e-07	0.020292	1.02664e-06	12	94				
ABCB4	5244	broad.mit.edu	37	7	87031499	87031499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:87031499C>G	ENST00000265723.4	-	28	3885	c.3774G>C	c.(3772-3774)aaG>aaC	p.K1258N	ABCB4_ENST00000545634.1_Missense_Mutation_p.K1251N|ABCB4_ENST00000359206.3_Missense_Mutation_p.K1251N|ABCB4_ENST00000453593.1_Missense_Mutation_p.K1204N|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1204N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1258	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K1251N(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TGCCATGCTCCTTGACTCTCC	0.498																																							uc003uiv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)|pancreas(1)	6						c.(3772-3774)AAG>AAC		ATP-binding cassette, subfamily B, member 4							152.0	139.0	144.0					7																	87031499		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87031499C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3774G>C	7.37:g.87031499C>G	ENSP00000265723:p.Lys1258Asn					ABCB4_uc003uiw.1_Missense_Mutation_p.K1251N|ABCB4_uc003uix.1_Missense_Mutation_p.K1204N	p.K1258N	NM_018849	NP_061337	P21439	MDR3_HUMAN			28	3850	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1258			ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3774G>C	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.955586|1.955586	0.34471|0.34471	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000440025|ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.|D;D;D;D;D	.|0.84944	.|-1.92;-1.92;-1.92;-1.92;-1.92	5.3|5.3	4.18|4.18	0.49190|0.49190	.|ABC transporter-like (1);	.|0.329295	.|0.33401	.|N	.|0.004957	T|T	0.75110|0.75110	0.3805|0.3805	N|N	0.24115|0.24115	0.695|0.695	0.40183|0.40183	D|D	0.977315|0.977315	.|B;P;B	.|0.40230	.|0.39;0.708;0.286	.|B;B;B	.|0.44224	.|0.147;0.444;0.123	T|T	0.73714|0.73714	-0.3896|-0.3896	5|10	.|0.44086	.|T	.|0.13	-5.5497|-5.5497	3.8953|3.8953	0.09136|0.09136	0.0:0.661:0.0:0.339|0.0:0.661:0.0:0.339	.|.	.|1204;1251;1258	.|A4D1D5;P21439-2;P21439	.|.;.;MDR3_HUMAN	R|N	63|1251;1204;1258;1204;1251	.|ENSP00000352135:K1251N;ENSP00000351172:K1204N;ENSP00000265723:K1258N;ENSP00000392983:K1204N;ENSP00000437465:K1251N	.|ENSP00000265723:K1258N	G|K	-|-	1|3	0|2	ABCB4|ABCB4	86869435|86869435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.584000|0.584000	0.36387|0.36387	2.230000|2.230000	0.42999|0.42999	2.626000|2.626000	0.88956|0.88956	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.498	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		15	145	0	0	0	0.004007	0	15	145				
SAMD9L	219285	broad.mit.edu	37	7	92761347	92761347	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:92761347C>T	ENST00000318238.4	-	5	5154	c.3938G>A	c.(3937-3939)tGt>tAt	p.C1313Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.C1313Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.C1313Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1313					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTAATAGACATGGATCCAA	0.378																																							uc003umh.1		NA																	0				ovary(4)	4						c.(3937-3939)TGT>TAT		sterile alpha motif domain containing 9-like							75.0	78.0	77.0					7																	92761347		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761347C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3938G>A	7.37:g.92761347C>T	ENSP00000326247:p.Cys1313Tyr					SAMD9L_uc003umj.1_Missense_Mutation_p.C1313Y|SAMD9L_uc003umi.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.C1313Y|SAMD9L_uc003umk.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.C1313Y|SAMD9L_uc011khx.1_Intron	p.C1313Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5154	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1313					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3938G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	1.166	-0.642476	0.03531	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21361	2.01;2.01;2.01	4.83	-2.81	0.05805	.	1.408090	0.04708	N	0.417160	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.14023	0.01	T	0.35375	-0.9791	10	0.59425	D	0.04	-0.0035	7.03	0.24962	0.0:0.1237:0.3745:0.5018	.	1313	Q8IVG5	SAM9L_HUMAN	Y	1313	ENSP00000326247:C1313Y;ENSP00000405760:C1313Y;ENSP00000408796:C1313Y	ENSP00000326247:C1313Y	C	-	2	0	SAMD9L	92599283	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.913000	0.04042	-0.701000	0.05063	-0.444000	0.05651	TGT		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		6	236	0	0	0	0.001168	0	6	236				
NRCAM	4897	broad.mit.edu	37	7	107808728	107808728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:107808728C>A	ENST00000425651.2	-	26	3306	c.3307G>T	c.(3307-3309)Gca>Tca	p.A1103S	NRCAM_ENST00000379028.3_Missense_Mutation_p.A1103S|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1103S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1103	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.A1103S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACTGCCTGCTACACCATAT	0.363																																							uc003vfb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(3307-3309)GCA>TCA		neuronal cell adhesion molecule isoform A							88.0	83.0	85.0					7																	107808728		1862	4102	5964	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107808728C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3307G>T	7.37:g.107808728C>A	ENSP00000401244:p.Ala1103Ser					NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	p.A1103S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			29	3778	-			1103			Fibronectin type-III 5.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3307G>T	CCDS47686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.697|9.697	1.153563|1.153563	0.21371|0.21371	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022|ENST00000445634	T;T;T|.	0.56941|.	0.43;0.43;0.43|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.565497|.	0.19603|.	N|.	0.110322|.	T|.	0.38161|.	0.1030|.	L|L	0.34521|0.34521	1.04|1.04	0.26761|0.26761	N|N	0.970009|0.970009	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|.	0.27905|.	-1.0060|.	10|.	0.07813|.	T|.	0.8|.	.|.	10.4768|10.4768	0.44670|0.44670	0.0:0.8561:0.0:0.1439|0.0:0.8561:0.0:0.1439	.|.	1103|.	Q92823|.	NRCAM_HUMAN|.	S|Y	1103|52	ENSP00000368314:A1103S;ENSP00000401244:A1103S;ENSP00000368308:A1103S|.	ENSP00000368308:A1103S|.	A|X	-|-	1|3	0|2	NRCAM|NRCAM	107595964|107595964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.008000|4.008000	0.57103|0.57103	2.738000|2.738000	0.93877|0.93877	0.650000|0.650000	0.86243|0.86243	GCA|TAG		0.363	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	73	1	0	3.09899e-07	0.004482	4.13198e-07	9	73				
CFTR	1080	broad.mit.edu	37	7	117232483	117232483	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:117232483G>A	ENST00000003084.6	+	14	2394	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	CFTR_ENST00000454343.1_Silent_p.V693V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	754			V -> M (in CF; dbSNP:rs150157202).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.V754V(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCATCAGCGTGATCAGCACTG	0.517									Cystic Fibrosis																														uc003vjd.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2260-2262)GTG>GTA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						81.0	60.0	67.0					7																	117232483		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232483G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2262G>A	7.37:g.117232483G>A						CFTR_uc011knq.1_Silent_p.V160V	p.V754V	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2394	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		754		V -> M (in CF).	Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.2262G>A	CCDS5773.1																																																																																				0.517	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		8	34	0	0	0	0.00308	0	8	34				
KEL	3792	broad.mit.edu	37	7	142641424	142641424	+	Missense_Mutation	SNP	G	G	T	rs61729050		TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:142641424G>T	ENST00000355265.2	-	13	1951	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	493					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q493K(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGTATTCTTGTCGGGCCAGC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19799	0.0		0.001	False		,,,				2504	0.0						uc003wcb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1477-1479)CAA>AAA		Kell blood group, metallo-endopeptidase							100.0	97.0	98.0					7																	142641424		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142641424G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1477C>A	7.37:g.142641424G>T	ENSP00000347409:p.Gln493Lys						p.Q493K	NM_000420	NP_000411	P23276	KELL_HUMAN			13	1687	-	Melanoma(164;0.059)		493			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1477C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.501757	0.01001	.	.	ENSG00000197993	ENST00000355265	T	0.81415	-1.49	4.85	2.97	0.34412	.	0.256202	0.27886	N	0.017452	T	0.73148	0.3550	M	0.63843	1.955	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.54443	-0.8293	10	0.08381	T	0.77	6.8678	11.2038	0.48758	0.0:0.3588:0.6412:0.0	.	493	P23276	KELL_HUMAN	K	493	ENSP00000347409:Q493K	ENSP00000347409:Q493K	Q	-	1	0	KEL	142351546	0.170000	0.23016	0.015000	0.15790	0.082000	0.17680	0.726000	0.25984	0.594000	0.29761	0.591000	0.81541	CAA		0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		11	98	1	0	1.08611e-07	0.010729	1.478e-07	11	98				
OR2A5	393046	broad.mit.edu	37	7	143748277	143748277	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:143748277C>A	ENST00000408906.2	+	1	817	c.783C>A	c.(781-783)gcC>gcA	p.A261A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A261A(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTACATGGCCCCCAAGTCCC	0.572																																							uc011ktw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(781-783)GCC>GCA		olfactory receptor, family 2, subfamily A,							95.0	94.0	94.0					7																	143748277		2003	4186	6189	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748277C>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.783C>A	7.37:g.143748277C>A							p.A261A	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	783	+	Melanoma(164;0.0783)		261			Extracellular (Potential).		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.783C>A	CCDS43668.1																																																																																				0.572	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			14	127	1	0	7.07596e-05	0.006122	8.37692e-05	14	127				
ZNF777	27153	broad.mit.edu	37	7	149153030	149153030	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:149153030G>A	ENST00000247930.4	-	2	407	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTTTCTCGGGGGAGTCCAG	0.547																																							uc003wfv.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(82-84)CCC>CCT		zinc finger protein 777							65.0	70.0	69.0					7																	149153030		1891	4111	6002	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149153030G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.84C>T	7.37:g.149153030G>A							p.P28P	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	247	-	Melanoma(164;0.165)		28					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.84C>T	CCDS43675.1																																																																																				0.547	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		16	99	0	0	0	0.004007	0	16	99				
PTPRN2	5799	broad.mit.edu	37	7	157475536	157475536	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr7:157475536C>A	ENST00000389418.4	-	13	1891	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.G590C|PTPRN2_ENST00000389413.3_Missense_Mutation_p.G599C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G611C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G651C	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	628					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G628C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGACGCCCAGGATGCAG	0.607																																							uc003wno.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1882-1884)GGC>TGC		protein tyrosine phosphatase, receptor type, N							100.0	104.0	103.0					7																	157475536		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157475536C>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1882G>T	7.37:g.157475536C>A	ENSP00000374069:p.Gly628Cys					PTPRN2_uc003wnp.2_Missense_Mutation_p.G611C|PTPRN2_uc003wnq.2_Missense_Mutation_p.G599C|PTPRN2_uc003wnr.2_Missense_Mutation_p.G590C|PTPRN2_uc011kwa.1_Missense_Mutation_p.G651C	p.G628C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	13	2003	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	628			Helical; (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1882G>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815305	0.70912	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03301	3.99;4.03;3.98;3.99;3.98	4.73	4.73	0.59995	.	0.492431	0.16394	N	0.216360	T	0.15739	0.0379	L	0.57536	1.79	0.36561	D	0.872452	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.998	D;D;D;P;D	0.70016	0.967;0.91;0.944;0.87;0.91	T	0.04664	-1.0935	10	0.51188	T	0.08	.	17.7244	0.88361	0.0:1.0:0.0:0.0	.	651;590;599;611;628	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	C	590;599;611;628;651	ENSP00000387114:G590C;ENSP00000374064:G599C;ENSP00000374067:G611C;ENSP00000374069:G628C;ENSP00000385464:G651C	ENSP00000374064:G599C	G	-	1	0	PTPRN2	157168297	0.675000	0.27558	0.126000	0.21872	0.966000	0.64601	5.248000	0.65421	2.140000	0.66376	0.655000	0.94253	GGC		0.607	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			8	87	1	0	0.000442599	0.006214	0.000503648	8	87				
FZD3	7976	broad.mit.edu	37	8	28385432	28385432	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:28385432T>A	ENST00000240093.3	+	5	1633	c.1155T>A	c.(1153-1155)gtT>gtA	p.V385V	FZD3_ENST00000537916.1_Silent_p.V385V|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	385					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V385V(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGTGGTAGTTGGGGTTTCTC	0.398																																							uc003xgx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1153-1155)GTT>GTA		frizzled 3 precursor							126.0	124.0	125.0					8																	28385432		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385432T>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1155T>A	8.37:g.28385432T>A						FZD3_uc010lvb.2_Silent_p.V385V	p.V385V	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1633	+		Ovarian(32;2.06e-05)	385			Helical; Name=5; (Potential).		A8K615	Silent	SNP	ENST00000240093.3	37	c.1155T>A	CCDS6069.1																																																																																				0.398	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		31	168	0	0	0	0.012213	0	31	168				
KIF13B	23303	broad.mit.edu	37	8	29035078	29035078	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:29035078C>A	ENST00000524189.1	-	9	776	c.738G>T	c.(736-738)gtG>gtT	p.V246V	KIF13B_ENST00000521515.1_Silent_p.V246V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	246	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.V246V(4)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGTTTGCCCACTTTCTCTC	0.502																																							uc003xhh.3		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(736-738)GTG>GTT		kinesin family member 13B							127.0	128.0	128.0					8																	29035078		1954	4149	6103	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29035078C>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.738G>T	8.37:g.29035078C>A						KIF13B_uc003xhj.2_Silent_p.V143V|KIF13B_uc010lvf.1_Silent_p.V182V	p.V246V	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	9	797	-		Ovarian(32;0.000536)	246			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.738G>T	CCDS55217.1																																																																																				0.502	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			16	148	1	0	1.67942e-08	0.006122	2.4096e-08	16	148				
UNC5D	137970	broad.mit.edu	37	8	35608274	35608274	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:35608274C>G	ENST00000404895.2	+	13	2438	c.2110C>G	c.(2110-2112)Ctg>Gtg	p.L704V	UNC5D_ENST00000287272.2_Missense_Mutation_p.L635V|UNC5D_ENST00000420357.1_Missense_Mutation_p.L637V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L699V|UNC5D_ENST00000449677.1_Missense_Mutation_p.L280V|UNC5D_ENST00000416672.1_Missense_Mutation_p.L709V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	704	Interaction with DCC. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L699V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGTAACTCCCTGGATTACAA	0.458																																							uc003xjr.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2110-2112)CTG>GTG		unc-5 homolog D precursor							222.0	191.0	201.0					8																	35608274		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608274C>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2110C>G	8.37:g.35608274C>G	ENSP00000385143:p.Leu704Val					UNC5D_uc003xjs.1_Missense_Mutation_p.L699V|UNC5D_uc003xju.1_Missense_Mutation_p.L280V	p.L704V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2438	+			704			Cytoplasmic (Potential).|Interaction with DCC (By similarity).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2110C>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870935	0.51695	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.56275	0.49;0.9;0.9;0.49;0.47;2.36	5.9	1.5	0.22942	.	0.150804	0.48286	D	0.000195	T	0.58090	0.2098	M	0.81802	2.56	0.27957	N	0.936901	D;P;D	0.54397	0.966;0.944;0.966	P;P;B	0.48598	0.583;0.572;0.368	T	0.57791	-0.7750	10	0.72032	D	0.01	-12.4561	9.5864	0.39519	0.0:0.5279:0.0:0.4721	.	280;699;704	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	704;637;635;709;699;280	ENSP00000385143:L704V;ENSP00000392739:L637V;ENSP00000287272:L635V;ENSP00000412652:L709V;ENSP00000394303:L699V;ENSP00000397211:L280V	ENSP00000287272:L635V	L	+	1	2	UNC5D	35727816	0.024000	0.19004	0.889000	0.34880	0.985000	0.73830	0.315000	0.19451	0.231000	0.21079	0.655000	0.94253	CTG		0.458	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			41	228	0	0	0	0.010771	0	41	228				
IKBKB	3551	broad.mit.edu	37	8	42178306	42178306	+	Silent	SNP	T	T	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:42178306T>C	ENST00000520810.1	+	16	1818	c.1632T>C	c.(1630-1632)atT>atC	p.I544I	IKBKB_ENST00000520835.1_Silent_p.I542I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Silent_p.I485I|IKBKB_ENST00000379708.3_Silent_p.I321I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	544					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.I544I(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGACCGACATTGTGGACTTAC	0.572																																							uc003xow.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1630-1632)ATT>ATC		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						84.0	87.0	86.0					8																	42178306		2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42178306T>C	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1632T>C	8.37:g.42178306T>C						IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.I321I|IKBKB_uc003xox.1_Silent_p.I265I|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I542I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.I485I	p.I544I	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		16	1809	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	544					B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.1632T>C	CCDS6128.1																																																																																				0.572	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			4	93	0	0	0	0.009096	0	4	93				
SLC20A2	6575	broad.mit.edu	37	8	42287590	42287590	+	Silent	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:42287590C>A	ENST00000342228.3	-	9	2070	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	SLC20A2_ENST00000520262.1_Silent_p.T567T|SLC20A2_ENST00000520179.1_Silent_p.T567T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	567					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.T567T(2)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGACGGCGTGATGGGAG	0.607																																							uc010lxl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1699-1701)ACG>ACT		solute carrier family 20, member 2							86.0	67.0	74.0					8																	42287590		2203	4300	6503	SO:0001819	synonymous_variant	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42287590C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1701G>T	8.37:g.42287590C>A						SLC20A2_uc010lxm.2_Silent_p.T567T|SLC20A2_uc003xpe.2_Silent_p.T567T|SLC20A2_uc011lcu.1_Silent_p.T369T	p.T567T	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		9	2395	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	567			Cytoplasmic (Potential).			Silent	SNP	ENST00000342228.3	37	c.1701G>T	CCDS6132.1																																																																																				0.607	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			7	46	1	0	1.06961e-07	0.00308	1.478e-07	7	46				
PDE7A	5150	broad.mit.edu	37	8	66635829	66635829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:66635829C>A	ENST00000401827.3	-	12	1633	c.1190G>T	c.(1189-1191)gGt>gTt	p.G397V	PDE7A_ENST00000379419.4_Missense_Mutation_p.G371V|PDE7A_ENST00000396642.3_Missense_Mutation_p.G397V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	397	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.G371V(1)|p.G397V(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGACTCACACCCAAATGATA	0.294																																							uc003xvq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1189-1191)GGT>GTT		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						51.0	54.0	53.0					8																	66635829		2203	4297	6500	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66635829C>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1190G>T	8.37:g.66635829C>A	ENSP00000385632:p.Gly397Val					PDE7A_uc003xvr.2_Missense_Mutation_p.G397V|PDE7A_uc003xvp.2_Missense_Mutation_p.G371V	p.G397V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		12	1202	-			397			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.1190G>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373272	0.42105	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	T;T;T	0.76709	-1.04;-1.04;-0.45	5.61	4.71	0.59529	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.266767	0.42682	D	0.000673	T	0.65386	0.2686	N	0.20986	0.625	0.58432	D	0.999995	B;B;P	0.41420	0.242;0.288;0.749	B;B;B	0.40038	0.089;0.317;0.17	T	0.68352	-0.5431	10	0.72032	D	0.01	.	9.7723	0.40598	0.0:0.7853:0.1416:0.0731	.	397;397;371	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	397;371;397	ENSP00000385632:G397V;ENSP00000368730:G371V;ENSP00000379881:G397V	ENSP00000368730:G371V	G	-	2	0	PDE7A	66798383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.116000	0.57871	1.309000	0.44985	0.585000	0.79938	GGT		0.294	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			6	70	1	0	0.00307968	0.00308	0.00335965	6	70				
ZFHX4	79776	broad.mit.edu	37	8	77618186	77618186	+	Silent	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77618186G>T	ENST00000521891.2	+	2	2311	c.1863G>T	c.(1861-1863)gtG>gtT	p.V621V	ZFHX4_ENST00000455469.2_Silent_p.V621V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.V621V|ZFHX4_ENST00000050961.6_Silent_p.V621V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V621V(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCGACACTGTGTTGGGGTCTT	0.532										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1861-1863)GTG>GTT		zinc finger homeodomain 4							90.0	94.0	92.0					8																	77618186		2036	4210	6246	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618186G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1863G>T	8.37:g.77618186G>T		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.V621V|ZFHX4_uc003yau.1_Silent_p.V621V|ZFHX4_uc003yaw.1_Silent_p.V621V	p.V621V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2250	+			621			C2H2-type 1.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1863G>T	CCDS47878.2																																																																																				0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	72	1	0	0.000151284	0.016723	0.000175943	13	72				
ZFHX4	79776	broad.mit.edu	37	8	77690667	77690667	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:77690667A>T	ENST00000521891.2	+	4	3765	c.3317A>T	c.(3316-3318)aAt>aTt	p.N1106I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N1080I|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N1080I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N1080I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1080					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N1106I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCCACCAAATGAGCTTGGT	0.532										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3238-3240)AAT>ATT		zinc finger homeodomain 4							83.0	91.0	88.0					8																	77690667		1989	4167	6156	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690667A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3317A>T	8.37:g.77690667A>T	ENSP00000430497:p.Asn1106Ile	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.N1106I|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1080I	p.N1080I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3626	+			1080					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3239A>T	CCDS47878.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.558|5.558	0.287791|0.287791	0.10513|0.10513	.|.	.|.	ENSG00000091656|ENSG00000091656	ENST00000517683|ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.|T;T;T;T	.|0.49720	.|0.77;0.82;0.78;0.77	5.22|5.22	4.07|4.07	0.47477|0.47477	.|.	.|0.000000	.|0.47455	.|U	.|0.000227	T|T	0.44180|0.44180	0.1281|0.1281	L|L	0.54323|0.54323	1.7|1.7	0.52099|0.52099	D|D	0.999949|0.999949	.|B;P;P	.|0.36909	.|0.437;0.573;0.573	.|B;B;B	.|0.38616	.|0.143;0.277;0.277	T|T	0.36696|0.36696	-0.9737|-0.9737	6|10	0.87932|0.41790	D|T	0|0.15	.|.	11.2391|11.2391	0.48958|0.48958	0.9283:0.0:0.0717:0.0|0.9283:0.0:0.0717:0.0	.|.	.|1080;1080;1106	.|Q86UP3;Q86UP3-4;G3V138	.|ZFHX4_HUMAN;.;.	L|I	1|1106;1106;1080;1080;1080	.|ENSP00000430497:N1106I;ENSP00000399605:N1080I;ENSP00000050961:N1080I;ENSP00000430848:N1080I	ENSP00000428595:M1L|ENSP00000050961:N1080I	M|N	+|+	1|2	0|0	ZFHX4|ZFHX4	77853222|77853222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.796000|2.796000	0.47869|0.47869	1.113000|1.113000	0.41760|0.41760	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	121	0	0	0	0.004007	0	17	121				
UBR5	51366	broad.mit.edu	37	8	103266711	103266711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:103266711G>A	ENST00000520539.1	-	59	8825	c.8219C>T	c.(8218-8220)cCa>cTa	p.P2740L	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.P2733L|KB-431C1.4_ENST00000520820.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.P468L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2739L|KB-431C1.4_ENST00000499653.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2740	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.|Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.P2740L(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCACTGGCTGGCAGTGATGG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(8218-8220)CCA>CTA		ubiquitin protein ligase E3 component n-recognin							156.0	139.0	144.0					8																	103266711		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266711G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8219C>T	8.37:g.103266711G>A	ENSP00000429084:p.Pro2740Leu					UBR5_uc003yks.1_Missense_Mutation_p.P2739L|UBR5_uc003ykq.2_Missense_Mutation_p.P251L	p.P2740L	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8252	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2740			Pro-rich.|HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.8219C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921894	0.73213	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.64	5.64	0.86602	HECT (4);	0.062450	0.64402	D	0.000004	D	0.93236	0.7845	H	0.96015	3.755	0.80722	D	1	P;P	0.52463	0.905;0.953	D;D	0.66497	0.924;0.944	D	0.94777	0.7950	10	0.87932	D	0	.	19.7009	0.96052	0.0:0.0:1.0:0.0	.	2733;2740	E7EMW7;O95071	.;UBR5_HUMAN	L	2740;2739;468;2733	ENSP00000429084:P2740L;ENSP00000220959:P2739L;ENSP00000428693:P468L;ENSP00000427819:P2733L	ENSP00000220959:P2739L	P	-	2	0	UBR5	103335887	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.006000	0.88564	2.646000	0.89796	0.563000	0.77884	CCA		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	73	0	0	0	0.008291	0	11	73				
PHF20L1	51105	broad.mit.edu	37	8	133823374	133823374	+	Splice_Site	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:133823374G>T	ENST00000395386.2	+	9	1229		c.e9+1		PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395376.1_Missense_Mutation_p.V316L|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V311L|PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000337920.4_Missense_Mutation_p.V285L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)	p.?(4)|p.V285L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCTGGAGCAGGTATGAAATGG	0.403																																							uc003ytt.2		NA																	6	Unknown(4)|Substitution - Missense(2)		lung(6)	ovary(2)	2						c.e9+1		PHD finger protein 20-like 1 isoform 1							112.0	120.0	117.0					8																	133823374		2203	4300	6503	SO:0001630	splice_region_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133823374G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.930+1G>T	8.37:g.133823374G>T						PHF20L1_uc003ytr.2_Missense_Mutation_p.V285L|PHF20L1_uc010mdv.2_Missense_Mutation_p.V285L|PHF20L1_uc003yts.2_Splice_Site_p.Q310_splice|PHF20L1_uc011lja.1_Splice_Site_p.Q284_splice|PHF20L1_uc003ytu.1_Splice_Site|PHF20L1_uc003ytv.2_Missense_Mutation_p.V150L	p.Q310_splice	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		9	1255	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)							A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Splice_Site	SNP	ENST00000395386.2	37	c.930_splice	CCDS6367.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.204947|4.204947	0.79127|0.79127	.|.	.|.	ENSG00000129292|ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390|ENST00000395379;ENST00000337920;ENST00000395376;ENST00000395374	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63117	.|0.2484	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;P	.|0.47910	.|0.073;0.902	.|B;P	.|0.61722	.|0.079;0.893	.|T	.|0.58059	.|-0.7703	.|7	.|.	.|.	.|.	.|.	17.7998|17.7998	0.88583|0.88583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150;285	.|G5E9D0;A8MW92-2	.|.;.	.|L	-1|311;285;316;150	.|ENSP00000378777:V311L;ENSP00000338269:V285L;ENSP00000378775:V316L	.|.	.|V	+|+	.|1	.|0	PHF20L1|PHF20L1	133892556|133892556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.778000|6.778000	0.75043|0.75043	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	.|GTA		0.403	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Intron	14	105	1	0	4.3838e-07	0.016723	5.75783e-07	14	105				
COL22A1	169044	broad.mit.edu	37	8	139737684	139737684	+	Splice_Site	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:139737684C>A	ENST00000303045.6	-	24	2586		c.e24-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGGCCCTGTAGAGAAA	0.572										HNSCC(7;0.00092)																													uc003yvd.2		NA																	2	Unknown(2)		lung(2)	ovary(11)|pancreas(1)|skin(1)	13						c.e24-1		collagen, type XXII, alpha 1							47.0	53.0	51.0					8																	139737684		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737684C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2140-1G>T	8.37:g.139737684C>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.G14_splice	p.G714_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2587	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.2140_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625461	0.66901	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.401	0.67047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139806866	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.485000	0.53208	2.659000	0.90383	0.655000	0.94253	.		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	21	111	1	0	3.7963e-18	0.01892	7.21025e-18	21	111				
PYCRL	65263	broad.mit.edu	37	8	144689140	144689140	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:144689140G>A	ENST00000220966.6	-	3	384	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	107					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L107L(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	AGGGTGCTCAGAGACACCCCA	0.632																																							uc003yyy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(355-357)CTG>TTG		pyrroline-5-carboxylate reductase-like							77.0	72.0	74.0					8																	144689140		2203	4300	6503	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144689140G>A	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.355C>T	8.37:g.144689140G>A						PYCRL_uc011lkm.1_Silent_p.L119L|PYCRL_uc011lkn.1_RNA	p.L119L	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		3	365	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.355C>T	CCDS6407.2																																																																																				0.632	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		9	65	0	0	0	0.004482	0	9	65				
PLEC	5339	broad.mit.edu	37	8	145001143	145001143	+	Splice_Site	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:145001143A>T	ENST00000322810.4	-	29	4526		c.e29+1		PLEC_ENST00000527096.1_Splice_Site|PLEC_ENST00000357649.2_Splice_Site|PLEC_ENST00000436759.2_Splice_Site|PLEC_ENST00000345136.3_Splice_Site|PLEC_ENST00000356346.3_Splice_Site|PLEC_ENST00000398774.2_Splice_Site|PLEC_ENST00000354958.2_Splice_Site|PLEC_ENST00000354589.3_Splice_Site	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.?(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCCCACCCTACCTCCTGGAT	0.637																																							uc003zaf.1		NA																	3	Unknown(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.e29+1		plectin isoform 1							71.0	78.0	76.0					8																	145001143		2102	4209	6311	SO:0001630	splice_region_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145001143A>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4356+1T>A	8.37:g.145001143A>T						PLEC_uc003zab.1_Splice_Site_p.E1315_splice|PLEC_uc003zac.1_Splice_Site_p.E1319_splice|PLEC_uc003zad.2_Splice_Site_p.E1315_splice|PLEC_uc003zae.1_Splice_Site_p.E1283_splice|PLEC_uc003zag.1_Splice_Site_p.E1293_splice|PLEC_uc003zah.2_Splice_Site_p.E1301_splice|PLEC_uc003zaj.2_Splice_Site_p.E1342_splice	p.E1452_splice	NM_201380	NP_958782	Q15149	PLEC_HUMAN			29	4526	-								Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	SNP	ENST00000322810.4	37	c.4356_splice	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046677	0.55110	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000527303	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5057	0.61483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEC	145073131	1.000000	0.71417	0.941000	0.38009	0.605000	0.37080	9.048000	0.93830	1.863000	0.54032	0.368000	0.22195	.		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	Intron	3	51	0	0	0	0.004672	0	3	51				
PLEC	5339	broad.mit.edu	37	8	145001150	145001150	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:145001150G>T	ENST00000322810.4	-	29	4520	c.4351C>A	c.(4351-4353)Cag>Aag	p.Q1451K	PLEC_ENST00000527096.1_Missense_Mutation_p.Q1337K|PLEC_ENST00000357649.2_Missense_Mutation_p.Q1318K|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1341K|PLEC_ENST00000345136.3_Missense_Mutation_p.Q1314K|PLEC_ENST00000356346.3_Missense_Mutation_p.Q1300K|PLEC_ENST00000398774.2_Missense_Mutation_p.Q1282K|PLEC_ENST00000354958.2_Missense_Mutation_p.Q1292K|PLEC_ENST00000354589.3_Missense_Mutation_p.Q1314K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1451	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.Q1341K(1)|p.Q1451K(1)|p.Q1314K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTACCTCCTGGATGACACTC	0.632																																							uc003zaf.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(4351-4353)CAG>AAG		plectin isoform 1							72.0	78.0	76.0					8																	145001150		2083	4199	6282	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145001150G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4351C>A	8.37:g.145001150G>T	ENSP00000323856:p.Gln1451Lys					PLEC_uc003zab.1_Missense_Mutation_p.Q1314K|PLEC_uc003zac.1_Missense_Mutation_p.Q1318K|PLEC_uc003zad.2_Missense_Mutation_p.Q1314K|PLEC_uc003zae.1_Missense_Mutation_p.Q1282K|PLEC_uc003zag.1_Missense_Mutation_p.Q1292K|PLEC_uc003zah.2_Missense_Mutation_p.Q1300K|PLEC_uc003zaj.2_Missense_Mutation_p.Q1341K	p.Q1451K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			29	4521	-			1451			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4351C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458583	0.43634	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;T;T;D;D;D;D	0.92299	-3.01;-3.01;-3.01;1.89;1.89;-3.01;-3.01;-3.01;-3.01	4.44	4.44	0.53790	.	0.000000	0.64402	U	0.000011	D	0.95802	0.8634	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.78314	0.991;0.991;0.991;0.98;0.991;0.991;0.991;0.991	D	0.96375	0.9277	10	0.72032	D	0.01	.	16.8396	0.85965	0.0:0.0:1.0:0.0	.	1341;1300;1292;1451;1282;1314;1318;1314	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1314;1318;1314;1282;1451;1292;1300;1341;1337	ENSP00000344848:Q1314K;ENSP00000350277:Q1318K;ENSP00000346602:Q1314K;ENSP00000381756:Q1282K;ENSP00000323856:Q1451K;ENSP00000347044:Q1292K;ENSP00000348702:Q1300K;ENSP00000388180:Q1341K;ENSP00000434583:Q1337K	ENSP00000323856:Q1451K	Q	-	1	0	PLEC	145073138	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.585000	0.98223	2.300000	0.77407	0.448000	0.29417	CAG		0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	53	1	0	6.4e-05	0.004672	7.61081e-05	3	53				
ZNF251	90987	broad.mit.edu	37	8	145948533	145948533	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:145948533C>A	ENST00000292562.7	-	5	787	c.512G>T	c.(511-513)gGc>gTc	p.G171V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	171					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.G128V(2)|p.G171V(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTTTCCCTGCCCACGGTAGC	0.433																																							uc003zdv.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(511-513)GGC>GTC		zinc finger protein 251							104.0	104.0	104.0					8																	145948533		1829	4083	5912	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948533C>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.512G>T	8.37:g.145948533C>A	ENSP00000292562:p.Gly171Val						p.G171V	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	768	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		171					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.512G>T	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	0.312	-0.967492	0.02232	.	.	ENSG00000198169	ENST00000292562	T	0.06768	3.26	3.04	-6.07	0.02158	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.42224	-0.9464	9	0.33141	T	0.24	1.3756	5.4728	0.16680	0.2199:0.6238:0.0:0.1563	.	171	Q9BRH9	ZN251_HUMAN	V	171	ENSP00000292562:G171V	ENSP00000292562:G171V	G	-	2	0	ZNF251	145919342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.033000	0.13754	-2.070000	0.00881	-0.440000	0.05779	GGC		0.433	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		31	172	1	0	3.86903e-22	0.013726	7.67988e-22	31	172				
GLIPR2	152007	broad.mit.edu	37	9	36162380	36162380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:36162380G>T	ENST00000377960.4	+	5	360	c.326G>T	c.(325-327)tGg>tTg	p.W109L	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.W83L|GLIPR2_ENST00000396613.3_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	109	SCP.			TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). {ECO:0000305}.	positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)	p.W109L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GCCATGGTATGGAAGAACACC	0.567																																							uc003zyz.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(325-327)TGG>TTG		GLI pathogenesis-related 2							173.0	146.0	155.0					9																	36162380		2203	4300	6503	SO:0001583	missense	152007					extracellular region|Golgi membrane		g.chr9:36162380G>T	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.326G>T	9.37:g.36162380G>T	ENSP00000367196:p.Trp109Leu					GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	p.W109L	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN			5	360	+			109	TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).				Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	c.326G>T	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257291	0.95368	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.09723	2.95;2.95	5.95	5.95	0.96441	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.050474	0.85682	D	0.000000	T	0.51346	0.1669	H	0.99719	4.725	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.74639	-0.3598	10	0.87932	D	0	-6.0831	17.887	0.88858	0.0:0.0:1.0:0.0	.	109	Q9H4G4	GAPR1_HUMAN	L	83;109	ENSP00000367195:W83L;ENSP00000367196:W109L	ENSP00000367195:W83L	W	+	2	0	GLIPR2	36152380	1.000000	0.71417	0.995000	0.50966	0.867000	0.49689	9.077000	0.94016	2.824000	0.97209	0.655000	0.94253	TGG		0.567	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		21	121	1	0	1.50039e-11	0.012319	2.50698e-11	21	121				
S1PR3	1903	broad.mit.edu	37	9	91617197	91617197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:91617197C>A	ENST00000375846.3	+	1	5777	c.1082C>A	c.(1081-1083)tCa>tAa	p.S361*	S1PR3_ENST00000358157.2_Nonsense_Mutation_p.S361*			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S361*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAGCCCCCTCATCCTGCATC	0.537																																							uc004aqe.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1081-1083)TCA>TAA		sphingosine-1-phosphate receptor 3							66.0	67.0	67.0					9																	91617197		2203	4300	6503	SO:0001587	stop_gained	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91617197C>A	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.1082C>A	9.37:g.91617197C>A	ENSP00000365006:p.Ser361*						p.S361*	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	1478	+			361			Cytoplasmic (By similarity).		Q5SQD8|Q7Z5I2	Nonsense_Mutation	SNP	ENST00000375846.3	37	c.1082C>A	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	C	38	6.742878	0.97805	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	.	.	.	5.23	4.33	0.51752	.	0.710453	0.13402	N	0.390550	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.979	0.53109	0.0:0.9202:0.0:0.0798	.	.	.	.	X	361	.	ENSP00000350878:S361X	S	+	2	0	S1PR3	90807017	0.005000	0.15991	0.003000	0.11579	0.736000	0.42039	2.121000	0.41977	1.435000	0.47434	0.491000	0.48974	TCA		0.537	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		7	32	1	0	0.00307968	0.00308	0.00335965	7	32				
ACTL7B	10880	broad.mit.edu	37	9	111618088	111618088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:111618088C>T	ENST00000374667.3	-	1	1151	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	41						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.M41I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTGGGCTTCATCTTGAGCT	0.657																																							uc004bdi.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(121-123)ATG>ATA		actin-like 7B							104.0	101.0	102.0					9																	111618088		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618088C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.123G>A	9.37:g.111618088C>T	ENSP00000363799:p.Met41Ile						p.M41I	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	188	-			41					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.123G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.362768	0.01235	.	.	ENSG00000148156	ENST00000374667	D	0.94650	-3.48	4.13	2.25	0.28309	.	1.440680	0.05115	U	0.489663	D	0.91036	0.7180	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79855	-0.1627	10	0.87932	D	0	.	5.7653	0.18224	0.0:0.7594:0.0:0.2406	.	41	Q9Y614	ACL7B_HUMAN	I	41	ENSP00000363799:M41I	ENSP00000363799:M41I	M	-	3	0	ACTL7B	110657909	0.003000	0.15002	0.067000	0.19924	0.042000	0.13812	0.017000	0.13399	0.386000	0.24997	0.655000	0.94253	ATG		0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		18	107	0	0	0	0.007413	0	18	107				
TNC	3371	broad.mit.edu	37	9	117803262	117803262	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:117803262C>T	ENST00000350763.4	-	19	5761	c.5350G>A	c.(5350-5352)Ggc>Agc	p.G1784S	TNC_ENST00000346706.3_Missense_Mutation_p.G1238S|TNC_ENST00000535648.1_Missense_Mutation_p.G1329S|TNC_ENST00000345230.3_Missense_Mutation_p.G1147S|TNC_ENST00000340094.3_Missense_Mutation_p.G1420S|TNC_ENST00000537320.1_Missense_Mutation_p.G1147S|TNC_ENST00000423613.2_Missense_Mutation_p.G1511S|TNC_ENST00000341037.4_Missense_Mutation_p.G1602S|TNC_ENST00000542877.1_Missense_Mutation_p.G1421S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1784	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G1784S(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCAAAGCCCTTCATGGCG	0.502																																							uc004bjj.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5350-5352)GGC>AGC		tenascin C precursor							191.0	165.0	174.0					9																	117803262		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117803262C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5350G>A	9.37:g.117803262C>T	ENSP00000265131:p.Gly1784Ser					TNC_uc010mvf.2_Missense_Mutation_p.G1511S	p.G1784S	NM_002160	NP_002151	P24821	TENA_HUMAN			19	5712	-			1784			Fibronectin type-III 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5350G>A	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.288182|4.288182	0.80803|0.80803	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|T;T;T;T;T;T;T;T;T	.|0.60548	.|0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79064|0.79064	0.4383|0.4383	M|M	0.81341|0.81341	2.54|2.54	0.38138|0.38138	D|D	0.938352|0.938352	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79899|0.79899	-0.1608|-0.1608	6|10	.|0.49607	.|T	.|0.09	.|.	20.3422|20.3422	0.98769|0.98769	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1511;1784	.|E9PC84;P24821	.|.;TENA_HUMAN	E|S	346|1420;1329;1238;1147;1784;1602;1511;1147;1421	.|ENSP00000344400:G1420S;ENSP00000438152:G1329S;ENSP00000344555:G1238S;ENSP00000345861:G1147S;ENSP00000265131:G1784S;ENSP00000339553:G1602S;ENSP00000411406:G1511S;ENSP00000443478:G1147S;ENSP00000442242:G1421S	.|ENSP00000344400:G1420S	G|G	-|-	2|1	0|0	TNC|TNC	116843083|116843083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	7.469000|7.469000	0.80959|0.80959	2.810000|2.810000	0.96702|0.96702	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		39	118	0	0	0	0.006999	0	39	118				
CNTRL	11064	broad.mit.edu	37	9	123920082	123920082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:123920082G>T	ENST00000373855.1	+	29	4821	c.4561G>T	c.(4561-4563)Gaa>Taa	p.E1521*	CNTRL_ENST00000373844.1_5'Flank|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1521*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E969*|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1521					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E1521*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AATCTTGAAAGAAATAAACAA	0.408																																							uc004bkx.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(4561-4563)GAA>TAA		centrosomal protein 110kDa							81.0	84.0	83.0					9																	123920082		2203	4300	6503	SO:0001587	stop_gained	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123920082G>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4561G>T	9.37:g.123920082G>T	ENSP00000362962:p.Glu1521*					CEP110_uc004bla.1_Nonsense_Mutation_p.E969*|CEP110_uc010mvo.1_Nonsense_Mutation_p.E190*|CEP110_uc004blb.1_Nonsense_Mutation_p.E190*|CEP110_uc010mvp.1_5'UTR	p.E1521*	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			27	4592	+			1521			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	c.4561G>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	41	8.872797	0.98986	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	.	.	.	X	1521;1521;1521;277;969;969;190;203	.	ENSP00000238341:E1521X	E	+	1	0	CNTRL	122959903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.624000	0.61254	2.793000	0.96121	0.655000	0.94253	GAA		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		21	112	1	0	1.01871e-10	0.008871	1.63988e-10	21	112				
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:130911883C>A	ENST00000373017.1	+	2	316	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	LCN2_ENST00000277480.2_Missense_Mutation_p.L27M|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.L27M|LCN2_ENST00000540948.1_Missense_Mutation_p.L27M|LCN2_ENST00000372998.1_Missense_Mutation_p.L27M			P80188	NGAL_HUMAN	lipocalin 2	27					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.L27M(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CACCTCAGACCTGATCCCAGC	0.642																																							uc004bto.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(79-81)CTG>ATG		lipocalin 2 precursor							76.0	77.0	76.0					9																	130911883		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130911883C>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.79C>A	9.37:g.130911883C>A	ENSP00000362108:p.Leu27Met					LCN2_uc010mxq.1_Missense_Mutation_p.L27M|LCN2_uc011map.1_Missense_Mutation_p.L27M	p.L27M	NM_005564	NP_005555	P80188	NGAL_HUMAN			1	152	+			27					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.79C>A	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193893	0.22037	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.25579	1.8;1.8;1.8;1.79;1.8	3.23	2.3	0.28687	Calycin-like (1);Calycin (1);	0.676145	0.12265	N	0.484361	T	0.23492	0.0568	M	0.63428	1.95	0.24211	N	0.995476	B;B;B	0.33288	0.406;0.284;0.284	B;B;B	0.31751	0.135;0.064;0.064	T	0.16482	-1.0401	10	0.42905	T	0.14	-0.3395	5.7631	0.18211	0.0:0.8474:0.0:0.1526	.	27;28;27	P80188-2;B2ZDQ1;P80188	.;.;NGAL_HUMAN	M	27	ENSP00000362108:L27M;ENSP00000277480:L27M;ENSP00000362104:L27M;ENSP00000441666:L27M;ENSP00000362089:L27M	ENSP00000277480:L27M	L	+	1	2	LCN2	129951704	0.002000	0.14202	0.467000	0.27180	0.019000	0.09904	-0.101000	0.10973	0.902000	0.36520	0.456000	0.33151	CTG		0.642	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		27	75	1	0	1.04121e-07	0.005443	1.45439e-07	27	75				
LCN1	3933	broad.mit.edu	37	9	138415808	138415808	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr9:138415808G>A	ENST00000263598.2	+	4	435	c.375G>A	c.(373-375)ggG>ggA	p.G125G	LCN1_ENST00000371781.3_Silent_p.G125G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	125					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.G125G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGCTGCACGGGAAGCCGGTCC	0.642																																							uc004cfz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)GGG>GGA		lipocalin 1 precursor							85.0	70.0	75.0					9																	138415808		2203	4300	6503	SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415808G>A		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.375G>A	9.37:g.138415808G>A						LCN1_uc004cga.1_Silent_p.G125G	p.G125G	NM_002297	NP_002288	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	4	433	+		Myeloproliferative disorder(178;0.0511)	125					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.375G>A	CCDS6991.1																																																																																				0.642	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		3	33	0	0	0	0.001984	0	3	33				
BCOR	54880	broad.mit.edu	37	X	39932097	39932097	+	Silent	SNP	G	G	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:39932097G>A	ENST00000378444.4	-	4	2730	c.2502C>T	c.(2500-2502)agC>agT	p.S834S	BCOR_ENST00000342274.4_Silent_p.S834S|BCOR_ENST00000378455.4_Silent_p.S834S|BCOR_ENST00000397354.3_Silent_p.S834S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	834					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S834S(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGCTCAGCGCTCTGGCCAA	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2500-2502)AGC>AGT		BCL-6 interacting corepressor isoform c							55.0	53.0	53.0					X																	39932097		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932097G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2502C>T	X.37:g.39932097G>A						BCOR_uc004dep.3_Silent_p.S834S|BCOR_uc004deo.3_Silent_p.S834S|BCOR_uc004dem.3_Silent_p.S834S|BCOR_uc004deq.3_Silent_p.S834S	p.S834S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	2794	-			834					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2502C>T	CCDS48093.1																																																																																				0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		13	62	0	0	0	0.013537	0	13	62				
JADE3	9767	broad.mit.edu	37	X	46918161	46918161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:46918161G>T	ENST00000218343.4	+	11	2452	c.2154G>T	c.(2152-2154)gaG>gaT	p.E718D	PHF16_ENST00000397189.1_Missense_Mutation_p.E718D	NM_014735.3	NP_055550.1												p.E718D(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCTTTAAAGAGACCACCAATA	0.498																																							uc004dgx.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2152-2154)GAG>GAT		PHD finger protein 16							50.0	45.0	47.0					X																	46918161		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46918161G>T																												ENST00000218343.4:c.2154G>T	X.37:g.46918161G>T	ENSP00000218343:p.Glu718Asp					PHF16_uc004dgy.2_Missense_Mutation_p.E718D	p.E718D	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			11	2205	+			718						Missense_Mutation	SNP	ENST00000218343.4	37	c.2154G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202546	0.22121	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.55588	0.51;0.51	5.88	4.11	0.48088	.	0.047437	0.85682	D	0.000000	T	0.36717	0.0977	N	0.20986	0.625	0.46798	D	0.999202	B	0.24920	0.114	B	0.21360	0.034	T	0.18147	-1.0346	10	0.42905	T	0.14	.	10.4954	0.44775	0.2151:0.0:0.7849:0.0	.	718	Q92613	JADE3_HUMAN	D	718	ENSP00000380373:E718D;ENSP00000218343:E718D	ENSP00000218343:E718D	E	+	3	2	PHF16	46803105	1.000000	0.71417	0.746000	0.31095	0.688000	0.40055	2.923000	0.48868	1.240000	0.43803	0.600000	0.82982	GAG		0.498	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			10	57	1	0	0.000442599	0.006214	0.000503648	10	57				
FOXP3	50943	broad.mit.edu	37	X	49108150	49108150	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:49108150A>T	ENST00000376207.4	-	11	1308	c.1121T>A	c.(1120-1122)tTc>tAc	p.F374Y	FOXP3_ENST00000376199.2_Missense_Mutation_p.F339Y|FOXP3_ENST00000455775.2_Missense_Mutation_p.F347Y|FOXP3_ENST00000376197.1_Missense_Mutation_p.F324Y|FOXP3_ENST00000518685.1_Missense_Mutation_p.F339Y|FOXP3_ENST00000557224.1_Missense_Mutation_p.F339Y	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	374					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F374Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATGGTTTCTGAAGAAGGCAAA	0.587																																					GBM(182;1432 2112 16160 23073 31774)	GBM(182;1432 2112 16160 23073 31774)	uc004dnf.3		NA																	2	Substitution - Missense(2)		lung(2)		0	GRCh37	CM086634	FOXP3	M		c.(1120-1122)TTC>TAC		forkhead box P3 isoform a							98.0	67.0	77.0					X																	49108150		2202	4300	6502	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49108150A>T		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1121T>A	X.37:g.49108150A>T	ENSP00000365380:p.Phe374Tyr					FOXP3_uc011mnb.1_Missense_Mutation_p.F397Y|FOXP3_uc011mnc.1_Missense_Mutation_p.F347Y|FOXP3_uc004dne.3_Missense_Mutation_p.F339Y|FOXP3_uc010niq.1_Missense_Mutation_p.F339Y	p.F374Y	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			11	1309	-	Ovarian(276;0.236)		374			Fork-head.		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.1121T>A	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430134	0.83776	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.36	4.36	0.52297	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.083692	0.45867	D	0.000330	D	0.94195	0.8137	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.998	D;D;D;D;D	0.87578	0.995;0.997;0.998;0.995;0.991	D	0.92462	0.5978	10	0.29301	T	0.29	.	11.8081	0.52167	1.0:0.0:0.0:0.0	.	347;397;339;374;339	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Y	374;339;339;339;324;347	ENSP00000365380:F374Y;ENSP00000365372:F339Y;ENSP00000451208:F339Y;ENSP00000428952:F339Y;ENSP00000365369:F324Y;ENSP00000396415:F347Y	ENSP00000365369:F324Y	F	-	2	0	FOXP3	48995094	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	7.111000	0.77077	1.415000	0.47037	0.237000	0.17872	TTC		0.587	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		5	25	0	0	0	0.001168	0	5	25				
HUWE1	10075	broad.mit.edu	37	X	53581722	53581722	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:53581722G>C	ENST00000342160.3	-	60	8823	c.8366C>G	c.(8365-8367)tCt>tGt	p.S2789C	MIR98_ENST00000606724.1_RNA|MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.S2789C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2789					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)	p.S2789C(1)|p.S2667C(1)		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						TCCAGCTGGAGACTGCAGCTC	0.557																																							uc004dsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(8365-8367)TCT>TGT		HECT, UBA and WWE domain containing 1							107.0	87.0	94.0					X																	53581722		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:53581722G>C	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.8366C>G	X.37:g.53581722G>C	ENSP00000340648:p.Ser2789Cys					HUWE1_uc004dsn.2_Missense_Mutation_p.S1613C	p.S2789C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			61	8768	-			2789					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.8366C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.996803	0.19043	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	5.84	3.99	0.46301	.	0.675448	0.14642	N	0.307129	T	0.19208	0.0461	N	0.08118	0	0.28474	N	0.9153	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05241	-1.0897	10	0.56958	D	0.05	.	8.6238	0.33877	0.0936:0.2195:0.6869:0.0	.	2789;2789	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	C	2789	ENSP00000340648:S2789C;ENSP00000262854:S2789C	ENSP00000262854:S2789C	S	-	2	0	HUWE1	53598447	0.996000	0.38824	0.994000	0.49952	0.800000	0.45204	1.108000	0.31123	2.467000	0.83353	0.600000	0.82982	TCT		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	96	0	0	0	0.009096	0	3	96				
ARHGEF9	23229	broad.mit.edu	37	X	62926160	62926160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:62926160T>A	ENST00000253401.6	-	3	1159	c.359A>T	c.(358-360)aAg>aTg	p.K120M	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K99M|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K67M|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K118M|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K18M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	120	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K118M(2)|p.K120M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTGAGGTGCTTGATGTAGTG	0.537																																							uc004dvl.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(358-360)AAG>ATG		Cdc42 guanine exchange factor 9							150.0	104.0	120.0					X																	62926160		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62926160T>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.359A>T	X.37:g.62926160T>A	ENSP00000253401:p.Lys120Met					ARHGEF9_uc004dvj.1_Missense_Mutation_p.K9M|ARHGEF9_uc004dvk.1_Translation_Start_Site|ARHGEF9_uc011mos.1_Missense_Mutation_p.K99M|ARHGEF9_uc004dvm.1_Missense_Mutation_p.K99M|ARHGEF9_uc011mot.1_Missense_Mutation_p.K67M|ARHGEF9_uc004dvn.2_Missense_Mutation_p.K127M	p.K120M	NM_015185	NP_056000	O43307	ARHG9_HUMAN			3	1198	-			120			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.359A>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784916	0.90282	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.73	5.73	0.89815	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84547	0.5496	M	0.88570	2.965	0.80722	D	1	D;P;D	0.56521	0.976;0.951;0.975	P;P;P	0.60682	0.878;0.878;0.839	D	0.87598	0.2495	10	0.87932	D	0	.	13.7275	0.62767	0.0:0.0:0.0:1.0	.	67;118;120	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	M	120;118;67;18;99	ENSP00000253401:K120M;ENSP00000364012:K118M;ENSP00000399994:K67M;ENSP00000364004:K18M;ENSP00000364006:K99M	ENSP00000253401:K120M	K	-	2	0	ARHGEF9	62842885	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.362000	0.79507	1.922000	0.55676	0.486000	0.48141	AAG		0.537	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			3	22	0	0	0	0.004672	0	3	22				
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:75650121G>T	ENST00000361470.2	+	1	2076	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502																																							uc004ecm.1		NA																	4	Substitution - Nonsense(4)		lung(4)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1798-1800)GAG>TAG		melanoma antigen family E, 1							45.0	39.0	41.0					X																	75650121		2203	4300	6503	SO:0001587	stop_gained	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650121G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1798G>T	X.37:g.75650121G>T	ENSP00000354912:p.Glu600*						p.E600*	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2005	+			600			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	c.1798G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042075	0.75732	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.13	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9811	0.24704	0.0:0.0:1.0:0.0	.	.	.	.	X	600	.	ENSP00000354912:E600X	E	+	1	0	MAGEE1	75566525	0.990000	0.36364	0.005000	0.12908	0.002000	0.02628	2.592000	0.46171	1.330000	0.45394	0.594000	0.82650	GAG		0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	39	1	0	2.0095e-06	0.001984	2.53831e-06	6	39				
BRWD3	254065	broad.mit.edu	37	X	79978240	79978240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:79978240C>A	ENST00000373275.4	-	17	1913	c.1697G>T	c.(1696-1698)cGt>cTt	p.R566L	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	566					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R566L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTGGCATCACGAATAAGAGG	0.393																																							uc004edt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1696-1698)CGT>CTT		bromodomain and WD repeat domain containing 3							112.0	99.0	103.0					X																	79978240		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79978240C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1697G>T	X.37:g.79978240C>A	ENSP00000362372:p.Arg566Leu					BRWD3_uc004edo.2_Missense_Mutation_p.R162L|BRWD3_uc004edp.2_Missense_Mutation_p.R395L|BRWD3_uc004edq.2_Missense_Mutation_p.R162L|BRWD3_uc010nmj.1_Missense_Mutation_p.R162L|BRWD3_uc004edr.2_Missense_Mutation_p.R236L|BRWD3_uc004eds.2_Missense_Mutation_p.R162L|BRWD3_uc004edu.2_Missense_Mutation_p.R236L|BRWD3_uc004edv.2_Missense_Mutation_p.R162L|BRWD3_uc004edw.2_Missense_Mutation_p.R162L|BRWD3_uc004edx.2_Missense_Mutation_p.R162L|BRWD3_uc004edy.2_Missense_Mutation_p.R162L|BRWD3_uc004edz.2_Missense_Mutation_p.R236L|BRWD3_uc004eea.2_Missense_Mutation_p.R236L|BRWD3_uc004eeb.2_Missense_Mutation_p.R162L	p.R566L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			17	1960	-			566					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1697G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658726	0.88154	.	.	ENSG00000165288	ENST00000373275	T	0.37752	1.18	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.85462	2.755	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.69866	-0.5029	9	.	.	.	-8.5211	17.0991	0.86644	0.0:1.0:0.0:0.0	.	566	Q6RI45	BRWD3_HUMAN	L	566	ENSP00000362372:R566L	.	R	-	2	0	BRWD3	79864896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.278000	0.78587	2.304000	0.77564	0.544000	0.68410	CGT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	134	1	0	0.00316338	0.003163	0.00343676	15	134				
POF1B	79983	broad.mit.edu	37	X	84606415	84606415	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:84606415C>T	ENST00000262753.4	-	5	626	c.481G>A	c.(481-483)Gga>Aga	p.G161R	POF1B_ENST00000373145.3_Missense_Mutation_p.G161R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	161						tight junction (GO:0005923)		p.G161R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACATTGTTTCCTGGGAAGAAA	0.284																																							uc004eer.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(481-483)GGA>AGA		premature ovarian failure, 1B							89.0	93.0	92.0					X																	84606415		2203	4294	6497	SO:0001583	missense	79983						actin binding	g.chrX:84606415C>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.481G>A	X.37:g.84606415C>T	ENSP00000262753:p.Gly161Arg					POF1B_uc004ees.2_Missense_Mutation_p.G161R	p.G161R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			5	627	-			161					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.481G>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946691	0.34377	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.14144	2.54;2.53	4.92	4.05	0.47172	.	0.110691	0.40385	N	0.001110	T	0.27559	0.0677	L	0.50333	1.59	0.36488	D	0.86827	D;B	0.89917	1.0;0.215	D;B	0.97110	1.0;0.139	T	0.14420	-1.0473	10	0.56958	D	0.05	.	8.165	0.31222	0.0:0.8897:0.0:0.1103	.	161;161	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	R	161	ENSP00000262753:G161R;ENSP00000362238:G161R	ENSP00000262753:G161R	G	-	1	0	POF1B	84493071	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	2.415000	0.44635	1.069000	0.40788	0.415000	0.27848	GGA		0.284	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		9	95	0	0	0	0.004482	0	9	95				
PCDH11X	27328	broad.mit.edu	37	X	91132563	91132563	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:91132563G>T	ENST00000373094.1	+	2	2169	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G442C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G442C|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G442C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G442C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G442C(6)|p.G442R(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCAGATGCTGGCAAACCTCC	0.408																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	9	Substitution - Missense(9)		lung(9)	large_intestine(2)	2						c.(1324-1326)GGC>TGC		protocadherin 11 X-linked isoform c							47.0	45.0	45.0					X																	91132563		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132563G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1324G>T	X.37:g.91132563G>T	ENSP00000362186:p.Gly442Cys					PCDH11X_uc004efl.1_Missense_Mutation_p.G442C|PCDH11X_uc004efo.1_Missense_Mutation_p.G442C|PCDH11X_uc010nmv.1_Missense_Mutation_p.G442C|PCDH11X_uc004efm.1_Missense_Mutation_p.G442C|PCDH11X_uc004efn.1_Missense_Mutation_p.G442C|PCDH11X_uc004efh.1_Missense_Mutation_p.G442C|PCDH11X_uc004efj.1_Missense_Mutation_p.G442C	p.G442C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2169	+			442			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1324G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910874	0.52439	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	H	0.97659	4.05	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.91719	0.5387	10	0.87932	D	0	.	16.5733	0.84630	0.0:0.0:1.0:0.0	.	442;442;442;442;442;442;442;442	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	C	442	ENSP00000378746:G442C;ENSP00000362186:G442C;ENSP00000362189:G442C;ENSP00000355040:G442C;ENSP00000362180:G442C;ENSP00000423762:G442C;ENSP00000355105:G442C;ENSP00000384758:G442C;ENSP00000298274:G442C	ENSP00000298274:G442C	G	+	1	0	PCDH11X	91019219	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.507000	0.97996	2.115000	0.64714	0.544000	0.68410	GGC		0.408	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		23	95	1	0	8.16721e-17	0.010818	1.50779e-16	23	95				
HTR2C	3358	broad.mit.edu	37	X	114141816	114141816	+	Silent	SNP	T	T	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:114141816T>A	ENST00000276198.1	+	6	1943	c.1215T>A	c.(1213-1215)gcT>gcA	p.A405A	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.A405A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	405					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A405A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGCCACTGCTTTGTCTGGGA	0.453																																							uc004epu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1213-1215)GCT>GCA		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						95.0	96.0	96.0					X																	114141816		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141816T>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1215T>A	X.37:g.114141816T>A						HTR2C_uc010nqc.1_Silent_p.A405A|HTR2C_uc004epv.1_3'UTR	p.A405A	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1943	+			405			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.1215T>A	CCDS14564.1																																																																																				0.453	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		25	156	0	0	0	0.009535	0	25	156				
KIAA1210	57481	broad.mit.edu	37	X	118220652	118220652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:118220652C>A	ENST00000402510.2	-	11	4540	c.4541G>T	c.(4540-4542)aGg>aTg	p.R1514M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1514								p.R1514M(2)|p.R1338M(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTATGTCCCCTGCCTACAGA	0.502																																							uc004era.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(1)	5						c.(4540-4542)AGG>ATG		hypothetical protein LOC57481							71.0	67.0	68.0					X																	118220652		1887	4112	5999	SO:0001583	missense	57481							g.chrX:118220652C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4541G>T	X.37:g.118220652C>A	ENSP00000384670:p.Arg1514Met						p.R1514M	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4541	-			1514					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4541G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.72|14.72	2.620670|2.620670	0.46736|0.46736	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.11930	.|2.73	5.07|5.07	-8.42|-8.42	0.00957|0.00957	.|.	.|.	.|.	.|.	.|.	T|T	0.18593|0.18593	0.0446|0.0446	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.55999	.|0.789	T|T	0.31861|0.31861	-0.9928|-0.9928	5|9	.|0.49607	.|T	.|0.09	.|.	13.0924|13.0924	0.59172|0.59172	0.0:0.1277:0.0963:0.776|0.0:0.1277:0.0963:0.776	.|.	.|1514	.|Q9ULL0	.|K1210_HUMAN	H|M	920|1514	.|ENSP00000384670:R1514M	.|ENSP00000384670:R1514M	Q|R	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118104680|118104680	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.469000|-1.469000	0.02348|0.02348	-2.347000|-2.347000	0.00620|0.00620	-1.144000|-1.144000	0.01866|0.01866	CAG|AGG		0.502	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		14	61	1	0	7.93312e-07	0.020292	1.02664e-06	14	61				
DCAF12L2	340578	broad.mit.edu	37	X	125298619	125298619	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:125298619G>C	ENST00000360028.2	-	1	1315	c.1289C>G	c.(1288-1290)gCg>gGg	p.A430G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A430G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430G(4)|p.A430E(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGTAGAGCGCATTGGGGAA	0.602																																							uc004euk.1		NA																	6	Substitution - Missense(6)		lung(6)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1288-1290)GCG>GGG		DDB1 and CUL4 associated factor 12-like 2							118.0	118.0	118.0					X																	125298619		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298619G>C	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1289C>G	X.37:g.125298619G>C	ENSP00000353128:p.Ala430Gly						p.A430G	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1316	-			430					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1289C>G	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601811	0.46423	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.42900	0.96;0.96	3.93	3.93	0.45458	.	0.000000	0.36134	N	0.002770	T	0.41743	0.1172	M	0.73598	2.24	0.48087	D	0.999587	P	0.34909	0.475	B	0.28849	0.095	T	0.53158	-0.8478	10	0.72032	D	0.01	.	12.9304	0.58284	0.0:0.0:1.0:0.0	.	430	Q5VW00	DC122_HUMAN	G	430	ENSP00000441489:A430G;ENSP00000353128:A430G	ENSP00000353128:A430G	A	-	2	0	DCAF12L2	125126300	1.000000	0.71417	0.842000	0.33263	0.680000	0.39746	6.782000	0.75073	2.209000	0.71365	0.600000	0.82982	GCG		0.602	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		27	160	0	0	0	0.007291	0	27	160				
ZIC3	7547	broad.mit.edu	37	X	136649500	136649500	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:136649500C>G	ENST00000287538.5	+	1	1200	c.650C>G	c.(649-651)cCt>cGt	p.P217R	ZIC3_ENST00000370606.3_Missense_Mutation_p.P217R|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	217			P -> A (in HTX1 and CHTD1; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3; decrease in nuclear localization). {ECO:0000269|PubMed:14681828, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:24123890}.		anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P217R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTTCCTAACTACAGC	0.662																																							uc004fak.2		NA																	2	Substitution - Missense(2)	p.P217A(1)	lung(2)	ovary(2)|breast(1)	3						c.(649-651)CCT>CGT		zinc finger protein of the cerebellum 3							25.0	28.0	27.0					X																	136649500		2177	4249	6426	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649500C>G	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.650C>G	X.37:g.136649500C>G	ENSP00000287538:p.Pro217Arg						p.P217R	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1155	+	Acute lymphoblastic leukemia(192;0.000127)		217		P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3).			B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.650C>G	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954535	0.34471	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.29397	1.57;1.57	4.58	3.64	0.41730	.	0.112939	0.64402	D	0.000017	T	0.15305	0.0369	N	0.08118	0	0.38603	D	0.950702	B	0.02656	0.0	B	0.01281	0.0	T	0.06972	-1.0797	10	0.66056	D	0.02	.	8.6541	0.34053	0.4131:0.5869:0.0:0.0	.	217	O60481	ZIC3_HUMAN	R	217	ENSP00000287538:P217R;ENSP00000359638:P217R	ENSP00000287538:P217R	P	+	2	0	ZIC3	136477166	1.000000	0.71417	0.919000	0.36401	0.997000	0.91878	5.331000	0.65905	2.100000	0.63781	0.597000	0.82753	CCT		0.662	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			6	55	0	0	0	0.001984	0	6	55				
VCAM1	7412	broad.mit.edu	37	1	101186128	101186128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr1:101186128delC	ENST00000294728.2	+	2	262	c.161delC	c.(160-162)tccfs	p.S54fs	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Frame_Shift_Del_p.S54fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.S54fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	54	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGCTGTGAGTCCCCATTTTTC	0.468																																							uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(160-162)TCCfs		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						81.0	77.0	78.0					1																	101186128		2203	4300	6503	SO:0001589	frameshift_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186128delC	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.161delC	1.37:g.101186128delC	ENSP00000294728:p.Ser54fs					VCAM1_uc001dtj.2_Frame_Shift_Del_p.S54fs|VCAM1_uc010ouj.1_Intron	p.S54fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	281	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	54			Ig-like C2-type 1.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Frame_Shift_Del	DEL	ENST00000294728.2	37	c.161delC	CCDS773.1																																																																																				0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		21	115	NA	NA	NA	NA	NA	21	115	---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648791	130648791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr12:130648791delA	ENST00000229030.4	+	1	1788	c.1304delA	c.(1303-1305)gacfs	p.D435fs	FZD10_ENST00000539839.1_Frame_Shift_Del_p.G402fs|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	435					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGAACACGGACAAGCTGGAG	0.602																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(1303-1305)GACfs		frizzled 10 precursor							165.0	158.0	161.0					12																	130648791		2203	4300	6503	SO:0001589	frameshift_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648791delA	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1304delA	12.37:g.130648791delA	ENSP00000229030:p.Asp435fs					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.D435fs	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1760	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		435			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000229030.4	37	c.1304delA	CCDS9267.1																																																																																				0.602	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	62	NA	NA	NA	NA	NA	10	62	---	---	---	---
RNY4P30	100862673	broad.mit.edu	37	13	50466803	50466803	+	RNA	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr13:50466803delC	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		CTTTGTTCCTCCACCTCTTGC	0.493																																							uc001vdk.2		NA																	0					0						c.(2077-2079)CCAfs		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50466803delC			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50466803delC							p.P693fs	NR_003268						1	2259	+									Frame_Shift_Del	DEL	ENST00000410216.1	37	c.2077delC																																																																																					0.493	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				49	407	NA	NA	NA	NA	NA	49	407	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56137217	56137217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr20:56137217delC	ENST00000319441.4	+	3	479	c.315delC	c.(313-315)atcfs	p.I105fs	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	105					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGTGCCCATCCCCAAAACAG	0.547																																							uc002xyn.3		NA																	0				skin(1)	1						c.(313-315)ATCfs		cytosolic phosphoenolpyruvate carboxykinase 1							94.0	85.0	88.0					20																	56137217		2203	4300	6503	SO:0001589	frameshift_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137217delC		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.315delC	20.37:g.56137217delC	ENSP00000319814:p.Ile105fs					PCK1_uc010zzm.1_Intron	p.I105fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		3	478	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		105					A8K437|B4DT64|Q8TCA3|Q9UJD2	Frame_Shift_Del	DEL	ENST00000319441.4	37	c.315delC	CCDS13460.1																																																																																				0.547	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			7	76	NA	NA	NA	NA	NA	7	76	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																							uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			10	197	NA	NA	NA	NA	NA	10	197	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118812003	118812004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chr8:118812003_118812004insG	ENST00000378204.2	-	11	2994_2995	c.2188_2189insC	c.(2188-2190)aaafs	p.K730fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	730					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACCTGGTCTTTAAAGAGGACG	0.535			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														uc003yok.1		NA	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(2188-2190)AAAfs		exostosin 1																																				SO:0001589	frameshift_variant	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812003_118812004insG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2188_2189insC	8.37:g.118812003_118812004insG	ENSP00000367446:p.Lys730fs						p.K730fs	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2961_2962	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		730			Lumenal (Potential).		B2R7V2|Q9BVI9	Frame_Shift_Ins	INS	ENST00000378204.2	37	c.2188_2189insC	CCDS6324.1																																																																																				0.535	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		8	85	NA	NA	NA	NA	NA	8	85	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100125757	100125760	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-44-2655-01A-01D-1553-08	TCGA-44-2655-11A-01D-1553-08	AGGA	AGGA	-	-	AGGA	AGGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13	e2e670a2-4521-4fb9-85e0-9c26cf0f71d6	g.chrX:100125757_100125760delAGGA	ENST00000372966.3	-	2	294_297	c.89_92delTCCT	c.(88-93)ttcctgfs	p.FL30fs	NOX1_ENST00000217885.5_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372960.4_Frame_Shift_Del_p.FL30fs|NOX1_ENST00000372964.1_Frame_Shift_Del_p.FL30fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	30					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCATATTTCAGGAAGGCATCCAC	0.377																																							uc004egj.2		NA																	0				ovary(1)	1						c.(88-93)TTCCTGfs		NADPH oxidase 1 isoform long																																				SO:0001589	frameshift_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100125757_100125760delAGGA	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.89_92delTCCT	X.37:g.100125757_100125760delAGGA	ENSP00000362057:p.Phe30fs					uc010nnf.2_Intron|NOX1_uc004egl.3_Frame_Shift_Del_p.F30fs|NOX1_uc010nne.2_Frame_Shift_Del_p.F30fs	p.F30fs	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			2	295_298	-			30_31			Extracellular (Potential).		A8K836|O95691|Q2PP02	Frame_Shift_Del	DEL	ENST00000372966.3	37	c.89_92delTCCT	CCDS14474.1																																																																																				0.377	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		16	176	NA	NA	NA	NA	NA	16	176	---	---	---	---
